UniProtKB - Q13950 (RUNX2_HUMAN)
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- BLAST>sp|Q13950|RUNX2_HUMAN Runt-related transcription factor 2 OS=Homo sapiens OX=9606 GN=RUNX2 PE=1 SV=2 MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
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Runt-related transcription factor 2
RUNX2
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.7"MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2."
Pelletier N., Champagne N., Stifani S., Yang X.-J.
Oncogene 21:2729-2740(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH KAT6A AND KAT6B, FUNCTION. - Ref.27"A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia."
Jung Y.J., Bae H.S., Ryoo H.M., Baek S.H.
J. Cell. Biochem. 119:1152-1162(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD ARG-175; GLN-190; GLN-225 AND 462-GLY--TYR-521 DEL, CHARACTERIZATION OF VARIANT CLCD 462-GLY--TYR-521 DEL, FUNCTION. - Ref.28"Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia."
Zeng L., Wei J., Han D., Liu H., Liu Y., Zhao N., Sun S., Wang Y., Feng H.
Mutagenesis 32:437-443(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD GLY-193 AND 400-TYR--TYR-521 DEL, CHARACTERIZATION OF VARIANTS CLCD GLY-193 AND 400-TYR--TYR-521 DEL, FUNCTION, SUBCELLULAR LOCATION. - Ref.29"Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia."
Zhang X., Liu Y., Wang X., Sun X., Zhang C., Zheng S.
PLoS ONE 12:E0181653-E0181653(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225, CHARACTERIZATION OF VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225, FUNCTION, SUBCELLULAR LOCATION.
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ATP binding Source: InterPro
- bHLH transcription factor binding Source: Ensembl
- chromatin binding Source: Ensembl
- DNA binding transcription factor activity Source: ProtInc <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- protein domain specific binding Source: Ensembl
- repressing transcription factor binding Source: Ensembl
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- BMP signaling pathway Source: BHF-UCL
- cell maturation Source: Ensembl
- cellular response to BMP stimulus Source: BHF-UCL
- chondrocyte development Source: Ensembl
- chondrocyte differentiation Source: GO_Central
- embryonic cranial skeleton morphogenesis Source: Ensembl
- embryonic forelimb morphogenesis Source: Ensembl
- endochondral ossification Source: Ensembl
- hemopoiesis Source: GO_Central
- negative regulation of smoothened signaling pathway Source: Ensembl
- negative regulation of transcription, DNA-templated Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- neuron differentiation Source: GO_Central
- odontogenesis of dentin-containing tooth Source: Ensembl
- ossification Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- osteoblast development Source: Ensembl
- osteoblast differentiation Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patterni
- osteoblast fate commitment Source: Ensembl
- positive regulation of cell proliferation Source: Ensembl
- positive regulation of chondrocyte differentiation Source: Ensembl
- positive regulation of osteoblast differentiation Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of transcription, DNA-templated Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of transcription by RNA polymerase II Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Source: BHF-UCL
- regulation of cell differentiation Source: GO_Central
- regulation of fibroblast growth factor receptor signaling pathway Source: Ensembl
- regulation of odontogenesis of dentin-containing tooth Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- stem cell differentiation Source: Ensembl
- T cell differentiation Source: Ensembl
- transcription initiation from RNA polymerase II promoter Source: Reactome
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | DNA-binding |
| Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-8939246 RUNX1 regulates transcription of genes involved in differentiation of myeloid cells R-HSA-8939902 Regulation of RUNX2 expression and activity R-HSA-8940973 RUNX2 regulates osteoblast differentiation R-HSA-8941284 RUNX2 regulates chondrocyte maturation R-HSA-8941326 RUNX2 regulates bone development R-HSA-8941332 RUNX2 regulates genes involved in cell migration R-HSA-8941333 RUNX2 regulates genes involved in differentiation of myeloid cells |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q13950 |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q13950 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Runt-related transcription factor 2Alternative name(s): Acute myeloid leukemia 3 protein Core-binding factor subunit alpha-1 Short name: CBF-alpha-1 Oncogene AML-3 Osteoblast-specific transcription factor 2 Short name: OSF-2 Polyomavirus enhancer-binding protein 2 alpha A subunit Short name: PEA2-alpha A Short name: PEBP2-alpha A SL3-3 enhancer factor 1 alpha A subunit SL3/AKV core-binding factor alpha A subunit |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:RUNX2 Synonyms:AML3, CBFA1, OSF2, PEBP2A |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000124813.20 |
Human Gene Nomenclature Database More...HGNCi | HGNC:10472 RUNX2 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 600211 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q13950 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Nucleus
- Nucleus 2 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.28"Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia."
Zeng L., Wei J., Han D., Liu H., Liu Y., Zhao N., Sun S., Wang Y., Feng H.
Mutagenesis 32:437-443(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD GLY-193 AND 400-TYR--TYR-521 DEL, CHARACTERIZATION OF VARIANTS CLCD GLY-193 AND 400-TYR--TYR-521 DEL, FUNCTION, SUBCELLULAR LOCATION. - Ref.29"Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia."
Zhang X., Liu Y., Wang X., Sun X., Zhang C., Zheng S.
PLoS ONE 12:E0181653-E0181653(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225, CHARACTERIZATION OF VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225, FUNCTION, SUBCELLULAR LOCATION.
- Nucleus 2 Publications
Cytosol
- cytosol Source: Reactome
Nucleus
- nuclear chromatin Source: BHF-UCL
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Other locations
- transcription factor complex Source: Ensembl
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Cleidocranial dysplasia (CLCD)18 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.1"Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia."
Mundlos S., Otto F., Mundlos C., Mulliken J.B., Aylsworth A.S., Albright S., Lindhout D., Cole W.G., Henn W., Knoll J.H.M., Owen M.J., Mertelsmann R., Zabel B.U., Olsen B.R.
Cell 89:773-779(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANT CLCD ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-84 INS, VARIANT 78-ALA--ALA-83 DEL, INVOLVEMENT IN CLCD. - Ref.13"Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia."
Lee B., Thirunavukkarasu K., Zhou L., Pastore L., Baldini A., Hecht J., Geoffroy V., Ducy P., Karsenty G.
Nat. Genet. 16:307-310(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD ARG-175 AND ASN-191. - Ref.14"Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia."
Quack I., Vonderstrass B., Stock M., Aylsworth A.S., Becker A., Brueton L., Lee P.J., Majewski F., Mulliken J.B., Suri M., Zenker M., Mundlos S., Otto F.
Am. J. Hum. Genet. 65:1268-1278(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD ARG-113; ARG-118; CYS-121; ARG-123; ARG-205; GLN-225 AND TRP-225, VARIANT SER-511. - Ref.15"CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia."
Zhou G., Chen Y., Zhou L., Thirunavukkarasu K., Hecht J., Chitayat D., Gelb B.D., Pirinen S., Berry S.A., Greenberg C.R., Karsenty G., Lee B.
Hum. Mol. Genet. 8:2311-2316(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD ASN-133 DEL; GLN-169; ARG-175; GLN-190; ASN-191; CYS-193; PHE-199; ALA-200; ARG-209 AND GLN-225. - Ref.16"PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients."
Zhang Y.-W., Yasui N., Kakazu N., Abe T., Takada K., Imai S., Sato M., Nomura S., Ochi T., Okuzumi S., Nogami H., Nagai T., Ohashi H., Ito Y.
Gene 244:21-28(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CLCD SER-197. - Ref.17"A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia."
Giannotti A., Tessa A., Patrono C., De Florio L., Velardo M., Dionisi-Vici C., Bertini E., Santorelli F.M.
Hum. Mutat. 16:277-277(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CLCD TRP-190. - Ref.18"Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations."
Yoshida T., Kanegane H., Osato M., Yanagida M., Miyawaki T., Ito Y., Shigesada K.
Am. J. Hum. Genet. 71:724-738(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD TRP-190; SER-197; ASN-218; ILE-220; TRP-225 AND GLN-225, CHARACTERIZATION OF VARIANTS CLCD TRP-190; SER-197; ASN-218; ILE-220; TRP-225 AND GLN-225. - Ref.19"New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia."
Machuca-Tzili L., Monroy-Jaramillo N., Gonzalez-del Angel A., Kofman-Alfaro S.
Clin. Genet. 61:349-353(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CLCD LEU-53. - Ref.20"Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia."
Morava E., Karteszi J., Weisenbach J., Caliebe A., Mundlos S., Mehes K.
Eur. J. Pediatr. 161:619-622(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CLCD PRO-169. - Ref.21"Mutations in the RUNX2 gene in patients with cleidocranial dysplasia."
Otto F., Kanegane H., Mundlos S.
Hum. Mutat. 19:209-216(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD GLY-156; PRO-169; TRP-190; LYS-201; TRP-225; GLN-225 AND VAL-362. - Ref.22"Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype."
Kim H.-J., Nam S.-H., Kim H.-J., Park H.-S., Ryoo H.-M., Kim S.-Y., Cho T.-J., Kim S.-G., Bae S.-C., Kim I.-S., Stein J.L., van Wijnen A.J., Stein G.S., Lian J.B., Choi J.-Y.
J. Cell. Physiol. 207:114-122(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD GLY-131 AND GLN-225. - Ref.23"A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia."
Wang G.X., Sun R.P., Song F.L.
Genet. Mol. Res. 9:41-47(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CLCD ILE-420. - Ref.24"Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia."
Ott C.E., Leschik G., Trotier F., Brueton L., Brunner H.G., Brussel W., Guillen-Navarro E., Haase C., Kohlhase J., Kotzot D., Lane A., Lee-Kirsch M.A., Morlot S., Simon M.E.H., Steichen-Gersdorf E., Tegay D.H., Peters H., Mundlos S., Klopocki E.
Hum. Mutat. 31:E1587-E1593(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD ASN-118; SER-131; CYS-131; PRO-136; ASP-156; VAL-175; LYS-175; SER-187; GLN-193; ILE-200; HIS-209; PRO-211; GLN-218; GLU-218; LEU-225; GLY-228; ARG-233; ASN-287 AND ASN-420. - Ref.25"RUNX2 mutations in cleidocranial dysplasia patients."
Ryoo H.M., Kang H.Y., Lee S.K., Lee K.E., Kim J.W.
Oral Dis. 16:55-60(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CLCD TRP-225. - Ref.26"A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up."
Callea M., Bellacchio E., Di Stazio M., Fattori F., Bertini E., Yavuz I., Clarich G., Gunay A.
Oral Health Dent. Manag. 13:548-551(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CLCD CYS-131. - Ref.27"A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia."
Jung Y.J., Bae H.S., Ryoo H.M., Baek S.H.
J. Cell. Biochem. 119:1152-1162(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD ARG-175; GLN-190; GLN-225 AND 462-GLY--TYR-521 DEL, CHARACTERIZATION OF VARIANT CLCD 462-GLY--TYR-521 DEL, FUNCTION. - Ref.28"Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia."
Zeng L., Wei J., Han D., Liu H., Liu Y., Zhao N., Sun S., Wang Y., Feng H.
Mutagenesis 32:437-443(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD GLY-193 AND 400-TYR--TYR-521 DEL, CHARACTERIZATION OF VARIANTS CLCD GLY-193 AND 400-TYR--TYR-521 DEL, FUNCTION, SUBCELLULAR LOCATION. - Ref.29"Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia."
Zhang X., Liu Y., Wang X., Sun X., Zhang C., Zheng S.
PLoS ONE 12:E0181653-E0181653(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225, CHARACTERIZATION OF VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225, FUNCTION, SUBCELLULAR LOCATION.
Mundlos S., Otto F., Mundlos C., Mulliken J.B., Aylsworth A.S., Albright S., Lindhout D., Cole W.G., Henn W., Knoll J.H.M., Owen M.J., Mertelsmann R., Zabel B.U., Olsen B.R.
Cell 89:773-779(1997) [PubMed] [Europe PMC] [Abstract]
Lee B., Thirunavukkarasu K., Zhou L., Pastore L., Baldini A., Hecht J., Geoffroy V., Ducy P., Karsenty G.
Nat. Genet. 16:307-310(1997) [PubMed] [Europe PMC] [Abstract]
Quack I., Vonderstrass B., Stock M., Aylsworth A.S., Becker A., Brueton L., Lee P.J., Majewski F., Mulliken J.B., Suri M., Zenker M., Mundlos S., Otto F.
Am. J. Hum. Genet. 65:1268-1278(1999) [PubMed] [Europe PMC] [Abstract]
Zhou G., Chen Y., Zhou L., Thirunavukkarasu K., Hecht J., Chitayat D., Gelb B.D., Pirinen S., Berry S.A., Greenberg C.R., Karsenty G., Lee B.
Hum. Mol. Genet. 8:2311-2316(1999) [PubMed] [Europe PMC] [Abstract]
Zhang Y.-W., Yasui N., Kakazu N., Abe T., Takada K., Imai S., Sato M., Nomura S., Ochi T., Okuzumi S., Nogami H., Nagai T., Ohashi H., Ito Y.
Gene 244:21-28(2000) [PubMed] [Europe PMC] [Abstract]
Giannotti A., Tessa A., Patrono C., De Florio L., Velardo M., Dionisi-Vici C., Bertini E., Santorelli F.M.
Hum. Mutat. 16:277-277(2000) [PubMed] [Europe PMC] [Abstract]
Yoshida T., Kanegane H., Osato M., Yanagida M., Miyawaki T., Ito Y., Shigesada K.
Am. J. Hum. Genet. 71:724-738(2002) [PubMed] [Europe PMC] [Abstract]
Machuca-Tzili L., Monroy-Jaramillo N., Gonzalez-del Angel A., Kofman-Alfaro S.
Clin. Genet. 61:349-353(2002) [PubMed] [Europe PMC] [Abstract]
Morava E., Karteszi J., Weisenbach J., Caliebe A., Mundlos S., Mehes K.
Eur. J. Pediatr. 161:619-622(2002) [PubMed] [Europe PMC] [Abstract]
Otto F., Kanegane H., Mundlos S.
Hum. Mutat. 19:209-216(2002) [PubMed] [Europe PMC] [Abstract]
Kim H.-J., Nam S.-H., Kim H.-J., Park H.-S., Ryoo H.-M., Kim S.-Y., Cho T.-J., Kim S.-G., Bae S.-C., Kim I.-S., Stein J.L., van Wijnen A.J., Stein G.S., Lian J.B., Choi J.-Y.
J. Cell. Physiol. 207:114-122(2006) [PubMed] [Europe PMC] [Abstract]
Wang G.X., Sun R.P., Song F.L.
Genet. Mol. Res. 9:41-47(2010) [PubMed] [Europe PMC] [Abstract]
Ott C.E., Leschik G., Trotier F., Brueton L., Brunner H.G., Brussel W., Guillen-Navarro E., Haase C., Kohlhase J., Kotzot D., Lane A., Lee-Kirsch M.A., Morlot S., Simon M.E.H., Steichen-Gersdorf E., Tegay D.H., Peters H., Mundlos S., Klopocki E.
Hum. Mutat. 31:E1587-E1593(2010) [PubMed] [Europe PMC] [Abstract]
Ryoo H.M., Kang H.Y., Lee S.K., Lee K.E., Kim J.W.
Oral Dis. 16:55-60(2010) [PubMed] [Europe PMC] [Abstract]
Callea M., Bellacchio E., Di Stazio M., Fattori F., Bertini E., Yavuz I., Clarich G., Gunay A.
Oral Health Dent. Manag. 13:548-551(2014) [PubMed] [Europe PMC] [Abstract]
Jung Y.J., Bae H.S., Ryoo H.M., Baek S.H.
J. Cell. Biochem. 119:1152-1162(2018) [PubMed] [Europe PMC] [Abstract]
Zeng L., Wei J., Han D., Liu H., Liu Y., Zhao N., Sun S., Wang Y., Feng H.
Mutagenesis 32:437-443(2017) [PubMed] [Europe PMC] [Abstract]
Zhang X., Liu Y., Wang X., Sun X., Zhang C., Zheng S.
PLoS ONE 12:E0181653-E0181653(2017) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064081 | 53 | Q → L in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079576 | 67 – 521 | Missing in CLCD; decreased subcellular localization in the nucleus; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 455 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012130 | 84 | A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012132 | 113 | L → R in CLCD; unchanged subcellular localization; decreased transactivation activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064082 | 118 | S → N in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012133 | 118 | S → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012134 | 121 | F → C in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012135 | 123 | C → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064083 | 131 | R → C in CLCD. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064084 | 131 | R → G in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064085 | 131 | R → S in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012136 | 133 | Missing in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064086 | 136 | L → P in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064087 | 156 | V → D in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064088 | 156 | V → G in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064089 | 169 | R → P in CLCD. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012137 | 169 | R → Q in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064090 | 175 | M → K in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012138 | 175 | M → R in CLCD; abolishes DNA binding. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064091 | 175 | M → V in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079577 | 186 | R → T in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064092 | 187 | F → S in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012139 | 190 | R → Q in CLCD; abolishes DNA binding. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012140 | 190 | R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012141 | 191 | S → N in CLCD; abolishes DNA binding. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012142 | 193 | R → C in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079578 | 193 | R → G in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064093 | 193 | R → Q in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012143 | 197 | F → S in CLCD; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012144 | 199 | L → F in CLCD; abolishes DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012145 | 200 | T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064094 | 200 | T → I in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064095 | 201 | I → K in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012146 | 205 | T → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064096 | 209 | Q → H in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012147 | 209 | Q → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064097 | 211 | A → P in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064098 | 218 | K → E in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064099 | 218 | K → N in CLCD; has severely impaired DNA binding and transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064100 | 218 | K → Q in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064101 | 220 | T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064102 | 225 | R → L in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012148 | 225 | R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012149 | 225 | R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064103 | 228 | R → G in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064104 | 233 | K → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064105 | 287 | D → N in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064106 | 362 | A → V in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079579 | 400 – 521 | Missing in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 122 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064107 | 420 | T → I in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064108 | 420 | T → N in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079580 | 462 – 521 | Missing in CLCD; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 60 |
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.11"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2."
FORGE Canada Consortium
Moffatt P., Ben Amor M., Glorieux F.H., Roschger P., Klaushofer K., Schwartzentruber J.A., Paterson A.D., Hu P., Marshall C., Fahiminiya S., Majewski J., Beaulieu C.L., Boycott K.M., Rauch F.
Am. J. Hum. Genet. 92:252-258(2013) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN MDMHB.
FORGE Canada Consortium
Moffatt P., Ben Amor M., Glorieux F.H., Roschger P., Klaushofer K., Schwartzentruber J.A., Paterson A.D., Hu P., Marshall C., Fahiminiya S., Majewski J., Beaulieu C.L., Boycott K.M., Rauch F.
Am. J. Hum. Genet. 92:252-258(2013) [PubMed] [Europe PMC] [Abstract]
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.11"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2."
FORGE Canada Consortium
Moffatt P., Ben Amor M., Glorieux F.H., Roschger P., Klaushofer K., Schwartzentruber J.A., Paterson A.D., Hu P., Marshall C., Fahiminiya S., Majewski J., Beaulieu C.L., Boycott K.M., Rauch F.
Am. J. Hum. Genet. 92:252-258(2013) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN MDMHB.
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 451 | S → A: Reduced DNA-binding and impaired phosphorylation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 860 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | RUNX2 |
MalaCards human disease database More...MalaCardsi | RUNX2 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 119600 phenotype 156510 phenotype |
Open Targets More...OpenTargetsi | ENSG00000124813 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 1452 Cleidocranial dysplasia 2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA34885 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | RUNX2 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 17368460 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000174659 | 1 – 521 | Runt-related transcription factor 2Add BLAST | 521 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
|---|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes covalent linkages of various types formed between two proteins (interchain cross-links) or between two parts of the same protein (intrachain cross-links), except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki | 238 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| |||
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 267 | Asymmetric dimethylarginineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | ||
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 451 | Phosphoserine; by CDK11 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | ||
| Isoform 3 (identifier: Q13950-3) | |||||
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 340 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | ||
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation."
Qiao M., Shapiro P., Fosbrink M., Rus H., Kumar R., Passaniti A.
J. Biol. Chem. 281:7118-7128(2006) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH CCNB1, PHOSPHORYLATION AT SER-451 BY CDK1, MUTAGENESIS OF SER-451.
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | Q13950 |
MaxQB - The MaxQuant DataBase More...MaxQBi | Q13950 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q13950 |
PeptideAtlas More...PeptideAtlasi | Q13950 |
PRoteomics IDEntifications database More...PRIDEi | Q13950 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 59767 59768 [Q13950-2] 59769 [Q13950-3] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q13950 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q13950 |
SwissPalm database of S-palmitoylation events More...SwissPalmi | Q13950 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000124813 |
CleanEx database of gene expression profiles More...CleanExi | HS_RUNX2 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q13950 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q13950 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | CAB008374 CAB062561 CAB068226 HPA022040 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
4 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.6"Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex."
Willis D.M., Loewy A.P., Charlton-Kachigian N., Shao J.-S., Ornitz D.M., Towler D.A.
J. Biol. Chem. 277:37280-37291(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH XRCC5 AND XRCC6. - Ref.7"MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2."
Pelletier N., Champagne N., Stifani S., Yang X.-J.
Oncogene 21:2729-2740(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH KAT6A AND KAT6B, FUNCTION. - Ref.8"Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation."
Qiao M., Shapiro P., Fosbrink M., Rus H., Kumar R., Passaniti A.
J. Biol. Chem. 281:7118-7128(2006) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH CCNB1, PHOSPHORYLATION AT SER-451 BY CDK1, MUTAGENESIS OF SER-451. - Ref.9"Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1."
Ono M., Yaguchi H., Ohkura N., Kitabayashi I., Nagamura Y., Nomura T., Miyachi Y., Tsukada T., Sakaguchi S.
Nature 446:685-689(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH FOXP3.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| PIN1 | Q13526 | 7 | EBI-976402,EBI-714158 | |
| PPM1D | O15297 | 4 | EBI-976402,EBI-1551512 | |
| SMAD6 | O43541 | 3 | EBI-976402,EBI-976374 | |
| TP73 | O15350 | 3 | EBI-976402,EBI-389606 | |
| UBTF | P17480 | 4 | EBI-976402,EBI-396235 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- bHLH transcription factor binding Source: Ensembl
- protein domain specific binding Source: Ensembl
- repressing transcription factor binding Source: Ensembl
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 107308, 46 interactors |
Database of interacting proteins More...DIPi | DIP-36707N |
The Eukaryotic Linear Motif resource for Functional Sites in Proteins More...ELMi | Q13950 |
Protein interaction database and analysis system More...IntActi | Q13950, 18 interactors |
Molecular INTeraction database More...MINTi | Q13950 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000360493 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q13950 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q13950 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini | 101 – 229 | RuntPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 129 |
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 242 – 258 | Required for interaction with FOXO1By similarityAdd BLAST | 17 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 336 – 439 | Interaction with KAT6ABy similarityAdd BLAST | 104 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 374 – 468 | Interaction with KAT6B1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 95 |
Compositional bias
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 49 – 71 | Poly-GlnAdd BLAST | 23 | |
| <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 73 – 89 | Poly-AlaAdd BLAST | 17 | |
| <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi | 237 – 521 | Pro/Ser/Thr-richAdd BLAST | 285 |
<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3982 Eukaryota ENOG4111J4Y LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00390000016964 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000045616 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG060268 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q13950 |
KEGG Orthology (KO) More...KOi | K09278 |
Identification of Orthologs from Complete Genome Data More...OMAi | SDPRQFT |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q13950 |
TreeFam database of animal gene trees More...TreeFami | TF321496 |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.60.40.720, 1 hit 4.10.770.10, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR000040 AML1_Runt IPR008967 p53-like_TF_DNA-bd IPR012346 p53/RUNT-type_TF_DNA-bd_sf IPR013524 Runt_dom IPR027384 Runx_central_dom_sf IPR013711 RunxI_C_dom IPR016554 TF_Runt-rel_RUNX |
The PANTHER Classification System More...PANTHERi | PTHR11950 PTHR11950, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00853 Runt, 1 hit PF08504 RunxI, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF009374 TF_Runt-rel_RUNX, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00967 ONCOGENEAML1 |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF49417 SSF49417, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS51062 RUNT, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ
60 70 80 90 100
QQQQQQQQQQ QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR
110 120 130 140 150
TMVEIIADHP AELVRTDSPN FLCSVLPSHW RCNKTLPVAF KVVALGEVPD
160 170 180 190 200
GTVVTVMAGN DENYSAELRN ASAVMKNQVA RFNDLRFVGR SGRGKSFTLT
210 220 230 240 250
ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS LFSDRLSDLG
260 270 280 290 300
RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD
310 320 330 340 350
QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS DDDTATSDFC
360 370 380 390 400
LWPSTLSKKS QAGASELGPF SDPRQFPSIS SLTESRFSNP RMHYPATFTY
410 420 430 440 450
TPPVTSGMSL GMSATTHYHT YLPPPYPGSS QSQSGPFQTS STPYLYYGTS
460 470 480 490 500
SGSYQFPMVP GGDRSPSRML PPCTTTSNGS TLLNPNLPNQ NDGVDADGSH
510 520
SSSPTVLNSS GRMDESVWRP Y
The sequence of this isoform differs from the canonical sequence as follows:
1-19: MASNSLFSTVTPCQQNFFW → MRIPV
10 20 30 40 50
MRIPVDPSTS RRFSPPSSSL QPGKMSDVSP VVAAQQQQQQ QQQQQQQQQQ
60 70 80 90 100
QQQQQQQEAA AAAAAAAAAA AAAAAVPRLR PPHDNRTMVE IIADHPAELV
110 120 130 140 150
RTDSPNFLCS VLPSHWRCNK TLPVAFKVVA LGEVPDGTVV TVMAGNDENY
160 170 180 190 200
SAELRNASAV MKNQVARFND LRFVGRSGRG KSFTLTITVF TNPPQVATYH
210 220 230 240 250
RAIKVTVDGP REPRRHRQKL DDSKPSLFSD RLSDLGRIPH PSMRVGVPPQ
260 270 280 290 300
NPRPSLNSAP SPFNPQGQSQ ITDPRQAQSS PPWSYDQSYP SYLSQMTSPS
310 320 330 340 350
IHSTTPLSST RGTGLPAITD VPRRISDDDT ATSDFCLWPS TLSKKSQAGA
360 370 380 390 400
SELGPFSDPR QFPSISSLTE SRFSNPRMHY PATFTYTPPV TSGMSLGMSA
410 420 430 440 450
TTHYHTYLPP PYPGSSQSQS GPFQTSSTPY LYYGTSSGSY QFPMVPGGDR
460 470 480 490 500
SPSRMLPPCT TTSNGSTLLN PNLPNQNDGV DADGSHSSSP TVLNSSGRMD
ESVWRPY
The sequence of this isoform differs from the canonical sequence as follows:
341-362: Missing.
10 20 30 40 50
MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ
60 70 80 90 100
QQQQQQQQQQ QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR
110 120 130 140 150
TMVEIIADHP AELVRTDSPN FLCSVLPSHW RCNKTLPVAF KVVALGEVPD
160 170 180 190 200
GTVVTVMAGN DENYSAELRN ASAVMKNQVA RFNDLRFVGR SGRGKSFTLT
210 220 230 240 250
ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS LFSDRLSDLG
260 270 280 290 300
RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD
310 320 330 340 350
QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS GASELGPFSD
360 370 380 390 400
PRQFPSISSL TESRFSNPRM HYPATFTYTP PVTSGMSLGM SATTHYHTYL
410 420 430 440 450
PPPYPGSSQS QSGPFQTSST PYLYYGTSSG SYQFPMVPGG DRSPSRMLPP
460 470 480 490
CTTTSNGSTL LNPNLPNQND GVDADGSHSS SPTVLNSSGR MDESVWRPY
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 16 | N → S in AAC77441 (PubMed:9651525).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064081 | 53 | Q → L in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079576 | 67 – 521 | Missing in CLCD; decreased subcellular localization in the nucleus; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 455 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012131 | 78 – 83 | Missing 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 6 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012130 | 84 | A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012132 | 113 | L → R in CLCD; unchanged subcellular localization; decreased transactivation activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064082 | 118 | S → N in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012133 | 118 | S → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012134 | 121 | F → C in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012135 | 123 | C → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064083 | 131 | R → C in CLCD. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064084 | 131 | R → G in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064085 | 131 | R → S in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012136 | 133 | Missing in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064086 | 136 | L → P in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064087 | 156 | V → D in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064088 | 156 | V → G in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064089 | 169 | R → P in CLCD. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012137 | 169 | R → Q in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064090 | 175 | M → K in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012138 | 175 | M → R in CLCD; abolishes DNA binding. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064091 | 175 | M → V in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079577 | 186 | R → T in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064092 | 187 | F → S in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012139 | 190 | R → Q in CLCD; abolishes DNA binding. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012140 | 190 | R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012141 | 191 | S → N in CLCD; abolishes DNA binding. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012142 | 193 | R → C in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079578 | 193 | R → G in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064093 | 193 | R → Q in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012143 | 197 | F → S in CLCD; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012144 | 199 | L → F in CLCD; abolishes DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012145 | 200 | T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064094 | 200 | T → I in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064095 | 201 | I → K in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012146 | 205 | T → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064096 | 209 | Q → H in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012147 | 209 | Q → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064097 | 211 | A → P in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064098 | 218 | K → E in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064099 | 218 | K → N in CLCD; has severely impaired DNA binding and transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064100 | 218 | K → Q in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064101 | 220 | T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064102 | 225 | R → L in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012148 | 225 | R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012149 | 225 | R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064103 | 228 | R → G in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064104 | 233 | K → R in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064105 | 287 | D → N in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064106 | 362 | A → V in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079579 | 400 – 521 | Missing in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 122 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064107 | 420 | T → I in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064108 | 420 | T → N in CLCD. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079580 | 462 – 521 | Missing in CLCD; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 60 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012150 | 511 | G → S1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005937 | 1 – 19 | MASNS…QNFFW → MRIPV in isoform 2. CuratedAdd BLAST | 19 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005938 | 341 – 362 | Missing in isoform 3. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 22 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | AF001450 , AF001443, AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA Translation: AAB65159.2 AF001450 , AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA Translation: AAB65158.1 AL161907 Genomic DNA No translation available. AL358135 Genomic DNA No translation available. AL096865 Genomic DNA No translation available. AF053952 mRNA Translation: AAC78624.1 AF053949 Genomic DNA Translation: AAC77441.1 L40992 mRNA Translation: AAA89072.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS43467.2 [Q13950-1] CCDS43468.2 [Q13950-3] |
NCBI Reference Sequences More...RefSeqi | NP_001015051.3, NM_001015051.3 [Q13950-3] NP_001019801.3, NM_001024630.3 [Q13950-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.535845 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000359524; ENSP00000352514; ENSG00000124813 [Q13950-2] ENST00000371432; ENSP00000360486; ENSG00000124813 [Q13950-3] ENST00000371436; ENSP00000360491; ENSG00000124813 [Q13950-3] ENST00000371438; ENSP00000360493; ENSG00000124813 [Q13950-1] ENST00000465038; ENSP00000420707; ENSG00000124813 [Q13950-1] ENST00000647337; ENSP00000495497; ENSG00000124813 [Q13950-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 860 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:860 |
UCSC genome browser More...UCSCi | uc003oxt.5 human [Q13950-1] |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q13950 | Runt-related transcription factor | 521 | |||
| Runt related transcription factor 2 | 589 | ||||
| Q13950-3 | Runt-related transcription factor | 499 | |||
| UPI0000E5DA66 | 567 |
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q13950 | Runt-related transcription factor | 521 | |||
| Runt related transcription factor 2 | 635 | ||||
| UPI000A309924 | 629 | ||||
| Runt related transcription factor 2 | 627 | ||||
| Runt-related transcription factor 2 (Fragment) | 88 | ||||
| +114 | |||||
| Q13950-2 | Runt-related transcription factor | 499 | |||
| UPI00038EB69D | 570 | ||||
| Runt related transcription factor 2 | 565 | ||||
| UPI0004F0E502 | 158 | ||||
| runt-related transcription factor 2 isoform X2 | 559 | ||||
| +25 | |||||
| Q13950-3 | Runt-related transcription factor | 494 | |||
| UPI00081027FC | 611 | ||||
| Runt related transcription factor 2 | 603 | ||||
| UPI000C9E1D4F | 603 | ||||
| UPI0007197720 | 398 | ||||
| +41 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q13950 | Runt-related transcription factor | 521 | |||
| Runt related transcription factor 2 | 635 | ||||
| UPI000A309924 | 629 | ||||
| Runt related transcription factor 2 | 627 | ||||
| Runt-related transcription factor 2 (Fragment) | 88 | ||||
| +204 | |||||
| Q13950-2 | UPI0000434E01 | 652 | |||
| UPI000462E5E8 | 555 | ||||
| UPI00045D6A52 | 532 | ||||
| Runt related transcription factor 2 | 541 | ||||
| Runt-related transcription factor | 454 | ||||
| +103 | |||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi
| Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | AF001450 , AF001443, AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA Translation: AAB65159.2 AF001450 , AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA Translation: AAB65158.1 AL161907 Genomic DNA No translation available. AL358135 Genomic DNA No translation available. AL096865 Genomic DNA No translation available. AF053952 mRNA Translation: AAC78624.1 AF053949 Genomic DNA Translation: AAC77441.1 L40992 mRNA Translation: AAA89072.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS43467.2 [Q13950-1] CCDS43468.2 [Q13950-3] |
NCBI Reference Sequences More...RefSeqi | NP_001015051.3, NM_001015051.3 [Q13950-3] NP_001019801.3, NM_001024630.3 [Q13950-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.535845 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q13950 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q13950 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 107308, 46 interactors |
Database of interacting proteins More...DIPi | DIP-36707N |
The Eukaryotic Linear Motif resource for Functional Sites in Proteins More...ELMi | Q13950 |
Protein interaction database and analysis system More...IntActi | Q13950, 18 interactors |
Molecular INTeraction database More...MINTi | Q13950 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000360493 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q13950 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q13950 |
SwissPalm database of S-palmitoylation events More...SwissPalmi | Q13950 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | RUNX2 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 17368460 |
Proteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | Q13950 |
MaxQB - The MaxQuant DataBase More...MaxQBi | Q13950 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q13950 |
PeptideAtlas More...PeptideAtlasi | Q13950 |
PRoteomics IDEntifications database More...PRIDEi | Q13950 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 59767 59768 [Q13950-2] 59769 [Q13950-3] |
Protocols and materials databases
The DNASU plasmid repository More...DNASUi | 860 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000359524; ENSP00000352514; ENSG00000124813 [Q13950-2] ENST00000371432; ENSP00000360486; ENSG00000124813 [Q13950-3] ENST00000371436; ENSP00000360491; ENSG00000124813 [Q13950-3] ENST00000371438; ENSP00000360493; ENSG00000124813 [Q13950-1] ENST00000465038; ENSP00000420707; ENSG00000124813 [Q13950-1] ENST00000647337; ENSP00000495497; ENSG00000124813 [Q13950-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 860 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:860 |
UCSC genome browser More...UCSCi | uc003oxt.5 human [Q13950-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 860 |
DisGeNET More...DisGeNETi | 860 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000124813.20 |
GeneCards: human genes, protein and diseases More...GeneCardsi | RUNX2 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | RUNX2 |
Human Gene Nomenclature Database More...HGNCi | HGNC:10472 RUNX2 |
Human Protein Atlas More...HPAi | CAB008374 CAB062561 CAB068226 HPA022040 |
MalaCards human disease database More...MalaCardsi | RUNX2 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 119600 phenotype 156510 phenotype 600211 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q13950 |
Open Targets More...OpenTargetsi | ENSG00000124813 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 1452 Cleidocranial dysplasia 2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA34885 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3982 Eukaryota ENOG4111J4Y LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00390000016964 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000045616 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG060268 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q13950 |
KEGG Orthology (KO) More...KOi | K09278 |
Identification of Orthologs from Complete Genome Data More...OMAi | SDPRQFT |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q13950 |
TreeFam database of animal gene trees More...TreeFami | TF321496 |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-8939246 RUNX1 regulates transcription of genes involved in differentiation of myeloid cells R-HSA-8939902 Regulation of RUNX2 expression and activity R-HSA-8940973 RUNX2 regulates osteoblast differentiation R-HSA-8941284 RUNX2 regulates chondrocyte maturation R-HSA-8941326 RUNX2 regulates bone development R-HSA-8941332 RUNX2 regulates genes involved in cell migration R-HSA-8941333 RUNX2 regulates genes involved in differentiation of myeloid cells |
SignaLink: a signaling pathway resource with multi-layered regulatory networks More...SignaLinki | Q13950 |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q13950 |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | RUNX2 human |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | RUNX2 |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 860 |
Protein Ontology More...PROi | PR:Q13950 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000124813 |
CleanEx database of gene expression profiles More...CleanExi | HS_RUNX2 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q13950 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q13950 HS |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.60.40.720, 1 hit 4.10.770.10, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR000040 AML1_Runt IPR008967 p53-like_TF_DNA-bd IPR012346 p53/RUNT-type_TF_DNA-bd_sf IPR013524 Runt_dom IPR027384 Runx_central_dom_sf IPR013711 RunxI_C_dom IPR016554 TF_Runt-rel_RUNX |
The PANTHER Classification System More...PANTHERi | PTHR11950 PTHR11950, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00853 Runt, 1 hit PF08504 RunxI, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF009374 TF_Runt-rel_RUNX, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00967 ONCOGENEAML1 |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF49417 SSF49417, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS51062 RUNT, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | RUNX2_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | Q13950Primary (citable) accession number: Q13950 Secondary accession number(s): O14614, O14615, O95181 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 2, 2001 |
| Last sequence update: | November 2, 2001 | |
| Last modified: | July 18, 2018 | |
| This is version 186 of the entry and version 2 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
