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UniProtKB - Q13950 (RUNX2_HUMAN)

Entry version 203 (10 Feb 2021)
Sequence version 2 (02 Nov 2001)
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Protein

Runt-related transcription factor 2

Gene

RUNX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

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>

<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

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation.By similarity4 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q13950

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%5Fand%5Ftaxonomy%5Fsection">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 2
Alternative 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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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 identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000124813.20

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

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
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAutosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_06408153Q → L in CLCD. 1 Publication1
Natural variantiVAR_07957667 – 521Missing in CLCD; decreased subcellular localization in the nucleus; decreased transactivation activity. 1 PublicationAdd BLAST455
Natural variantiVAR_01213084A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication1
Natural variantiVAR_012132113L → R in CLCD; unchanged subcellular localization; decreased transactivation activity. 2 Publications1
Natural variantiVAR_064082118S → N in CLCD. 1 Publication1
Natural variantiVAR_012133118S → R in CLCD. 1 Publication1
Natural variantiVAR_012134121F → C in CLCD. 1 Publication1
Natural variantiVAR_012135123C → R in CLCD. 1 Publication1
Natural variantiVAR_064083131R → C in CLCD. 2 Publications1
Natural variantiVAR_064084131R → G in CLCD. 1 Publication1
Natural variantiVAR_064085131R → S in CLCD. 1 Publication1
Natural variantiVAR_012136133Missing in CLCD. 1 Publication1
Natural variantiVAR_064086136L → P in CLCD. 1 Publication1
Natural variantiVAR_064087156V → D in CLCD. 1 Publication1
Natural variantiVAR_064088156V → G in CLCD. 1 Publication1
Natural variantiVAR_064089169R → P in CLCD. 2 PublicationsCorresponds to variant dbSNP:rs104893995EnsemblClinVar.1
Natural variantiVAR_012137169R → Q in CLCD. 1 PublicationCorresponds to variant dbSNP:rs104893995EnsemblClinVar.1
Natural variantiVAR_064090175M → K in CLCD. 1 Publication1
Natural variantiVAR_012138175M → R in CLCD; abolishes DNA binding. 3 PublicationsCorresponds to variant dbSNP:rs104893989EnsemblClinVar.1
Natural variantiVAR_064091175M → V in CLCD. 1 PublicationCorresponds to variant dbSNP:rs201647225Ensembl.1
Natural variantiVAR_079577186R → T in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication1
Natural variantiVAR_064092187F → S in CLCD. 1 Publication1
Natural variantiVAR_012139190R → Q in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1057521068EnsemblClinVar.1
Natural variantiVAR_012140190R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications1
Natural variantiVAR_012141191S → N in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs104893990EnsemblClinVar.1
Natural variantiVAR_012142193R → C in CLCD. 1 Publication1
Natural variantiVAR_079578193R → G in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication1
Natural variantiVAR_064093193R → Q in CLCD. 1 Publication1
Natural variantiVAR_012143197F → S in CLCD; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity. 2 Publications1
Natural variantiVAR_012144199L → F in CLCD; abolishes DNA binding. 1 Publication1
Natural variantiVAR_012145200T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 PublicationCorresponds to variant dbSNP:rs104893993EnsemblClinVar.1
Natural variantiVAR_064094200T → I in CLCD. 1 Publication1
Natural variantiVAR_064095201I → K in CLCD. 1 Publication1
Natural variantiVAR_012146205T → R in CLCD. 1 Publication1
Natural variantiVAR_064096209Q → H in CLCD. 1 Publication1
Natural variantiVAR_012147209Q → R in CLCD. 1 Publication1
Natural variantiVAR_064097211A → P in CLCD. 1 Publication1
Natural variantiVAR_064098218K → E in CLCD. 1 Publication1
Natural variantiVAR_064099218K → N in CLCD; has severely impaired DNA binding and transactivation. 1 PublicationCorresponds to variant dbSNP:rs752933596Ensembl.1
Natural variantiVAR_064100218K → Q in CLCD. 1 Publication1
Natural variantiVAR_064101220T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication1
Natural variantiVAR_064102225R → L in CLCD. 1 Publication1
Natural variantiVAR_012148225R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 6 PublicationsCorresponds to variant dbSNP:rs104893991EnsemblClinVar.1
Natural variantiVAR_012149225R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 5 PublicationsCorresponds to variant dbSNP:rs104893992EnsemblClinVar.1
Natural variantiVAR_064103228R → G in CLCD. 1 Publication1
Natural variantiVAR_064104233K → R in CLCD. 1 Publication1
Natural variantiVAR_064105287D → N in CLCD. 1 Publication1
Natural variantiVAR_064106362A → V in CLCD. 1 Publication1
Natural variantiVAR_079579400 – 521Missing in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 PublicationAdd BLAST122
Natural variantiVAR_064107420T → I in CLCD. 1 Publication1
Natural variantiVAR_064108420T → N in CLCD. 1 Publication1
Natural variantiVAR_079580462 – 521Missing in CLCD; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation. 1 PublicationAdd BLAST60
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB)1 Publication
The disease is caused by variants affecting the gene represented in this entry. Analysis for copy-number variations revealed that a 105 kb duplication within RUNX2 segregated with the MDMHB phenotype in a region with maximum linkage. Real-time PCR for copy-number variation in genomic DNA in eight samples, as well as sequence analysis of fibroblast cDNA from one subject with MDMHB confirmed that affected family members were heterozygous for the presence of an intragenic duplication encompassing exons 3 to 5 of RUNX2. These three exons code for the Q/A domain and the functionally essential DNA-binding Runt domain of RUNX2. The RUNX2 duplication found in individuals with MDMHB leads to a gain of function (PubMed:23290074).1 Publication
Disease descriptionAn autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi451S → A: Reduced DNA-binding and impaired phosphorylation. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-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
MIMi119600, 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 syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34885

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13950, Tbio

Genetic variation 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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001746591 – 521Runt-related transcription factor 2Add BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, 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-linki238Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei267Asymmetric dimethylarginineBy similarity1
Modified residuei451Phosphoserine; by CDK11 Publication1
Isoform 3 (identifier: Q13950-3)
Modified residuei340PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Phosphorylated; probably by MAP kinases (MAPK). Phosphorylation by HIPK3 is required for the SPEN/MINT and FGF2 transactivation during osteoblastic differentiation (By similarity). Phosphorylation at Ser-451 by CDK1 promotes endothelial cell proliferation required for tumor angiogenesis probably by facilitating cell cycle progression. Isoform 3 is phosphorylated on Ser-340.By similarity1 Publication

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q13950

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13950

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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: a multi-organism proteome resource

More...ProteomicsDBi		59767 [Q13950-1]
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

Specifically expressed in osteoblasts.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000124813, Expressed in tibia and 181 other tissues

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		ENSG00000124813, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer of an alpha and a beta subunit. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization.

Interacts with XRCC6 (Ku70) and XRCC5 (Ku80).

Interacts with HIVEP3.

Interacts with IFI204. Interaction with SATB2; the interaction results in enhanced DNA binding and transactivation by these transcription factors. Binds to HIPK3.

Interacts (isoform 3) with DDX5.

Interacts with FOXO1 (via a C-terminal region); the interaction inhibits RUNX2 transcriptional activity towards BGLAP. This interaction is prevented on insulin or IGF1 stimulation as FOXO1 is exported from the nucleus (By similarity).

Interacts with CCNB1, KAT6A and KAT6B.

Interacts with FOXP3.

Interacts with TMEM119 (By similarity).

Interacts with OLFM2 (By similarity).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107308, 51 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q13950

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, 19 interactors

Molecular INTeraction database

More...MINTi		Q13950

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360493

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13950, protein

<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

Biological Magnetic Resonance Data Bank

More...BMRBi		Q13950

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13950

Database of comparative protein structure models

More...ModBasei		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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini101 – 229RuntPROSITE-ProRule annotationAdd BLAST129

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Regioni242 – 258Required for interaction with FOXO1By similarityAdd BLAST17
Regioni336 – 439Interaction with KAT6ABy similarityAdd BLAST104
Regioni374 – 468Interaction with KAT6B1 PublicationAdd BLAST95

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 biasi49 – 71Poly-GlnAdd BLAST23
Compositional biasi73 – 89Poly-AlaAdd BLAST17
Compositional biasi237 – 521Pro/Ser/Thr-richAdd BLAST285

<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

A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes and contains the phosphorylation sites.

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3982, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160171

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13950

Identification of Orthologs from Complete Genome Data

More...OMAi		XVVALGE

Database of Orthologous Groups

More...OrthoDBi		562214at2759

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13950-1) [UniParc]FASTAAdd to basket
Also known as: Cbfa1a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:521
Mass (Da):56,648
Last modified:November 2, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i44C4F3867D6F3EB1
GO
Isoform 2 (identifier: Q13950-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MASNSLFSTVTPCQQNFFW → MRIPV

Show »
Length:507
Mass (Da):55,054
Checksum:i7228C267328DE1DC
GO
Isoform 3 (identifier: Q13950-3) [UniParc]FASTAAdd to basket
Also known as: Cbfa1b

The sequence of this isoform differs from the canonical sequence as follows:
     341-362: Missing.

Show »
Length:499
Mass (Da):54,249
Checksum:i4BA956230C96EB2E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L0L0I3L0L0_HUMAN
Runt-related transcription factor 2
RUNX2
542Annotation score:

Annotation score:4 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>
A0A0D9SEN7A0A0D9SEN7_HUMAN
Runt-related transcription factor
RUNX2
485Annotation score:

Annotation score:2 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>
I3L354I3L354_HUMAN
Runt-related transcription factor 2
RUNX2
276Annotation score:

Annotation score:1 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>
A0A2R8Y7Z3A0A2R8Y7Z3_HUMAN
Runt-related transcription factor 2
RUNX2
334Annotation score:

Annotation score:1 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>
I3L4L9I3L4L9_HUMAN
Runt-related transcription factor 2
RUNX2
37Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti16N → S in AAC77441 (PubMed:9651525).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06408153Q → L in CLCD. 1 Publication1
Natural variantiVAR_07957667 – 521Missing in CLCD; decreased subcellular localization in the nucleus; decreased transactivation activity. 1 PublicationAdd BLAST455
Natural variantiVAR_01213178 – 83Missing 1 Publication6
Natural variantiVAR_01213084A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication1
Natural variantiVAR_012132113L → R in CLCD; unchanged subcellular localization; decreased transactivation activity. 2 Publications1
Natural variantiVAR_064082118S → N in CLCD. 1 Publication1
Natural variantiVAR_012133118S → R in CLCD. 1 Publication1
Natural variantiVAR_012134121F → C in CLCD. 1 Publication1
Natural variantiVAR_012135123C → R in CLCD. 1 Publication1
Natural variantiVAR_064083131R → C in CLCD. 2 Publications1
Natural variantiVAR_064084131R → G in CLCD. 1 Publication1
Natural variantiVAR_064085131R → S in CLCD. 1 Publication1
Natural variantiVAR_012136133Missing in CLCD. 1 Publication1
Natural variantiVAR_064086136L → P in CLCD. 1 Publication1
Natural variantiVAR_064087156V → D in CLCD. 1 Publication1
Natural variantiVAR_064088156V → G in CLCD. 1 Publication1
Natural variantiVAR_064089169R → P in CLCD. 2 PublicationsCorresponds to variant dbSNP:rs104893995EnsemblClinVar.1
Natural variantiVAR_012137169R → Q in CLCD. 1 PublicationCorresponds to variant dbSNP:rs104893995EnsemblClinVar.1
Natural variantiVAR_064090175M → K in CLCD. 1 Publication1
Natural variantiVAR_012138175M → R in CLCD; abolishes DNA binding. 3 PublicationsCorresponds to variant dbSNP:rs104893989EnsemblClinVar.1
Natural variantiVAR_064091175M → V in CLCD. 1 PublicationCorresponds to variant dbSNP:rs201647225Ensembl.1
Natural variantiVAR_079577186R → T in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication1
Natural variantiVAR_064092187F → S in CLCD. 1 Publication1
Natural variantiVAR_012139190R → Q in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1057521068EnsemblClinVar.1
Natural variantiVAR_012140190R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications1
Natural variantiVAR_012141191S → N in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs104893990EnsemblClinVar.1
Natural variantiVAR_012142193R → C in CLCD. 1 Publication1
Natural variantiVAR_079578193R → G in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication1
Natural variantiVAR_064093193R → Q in CLCD. 1 Publication1
Natural variantiVAR_012143197F → S in CLCD; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity. 2 Publications1
Natural variantiVAR_012144199L → F in CLCD; abolishes DNA binding. 1 Publication1
Natural variantiVAR_012145200T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 PublicationCorresponds to variant dbSNP:rs104893993EnsemblClinVar.1
Natural variantiVAR_064094200T → I in CLCD. 1 Publication1
Natural variantiVAR_064095201I → K in CLCD. 1 Publication1
Natural variantiVAR_012146205T → R in CLCD. 1 Publication1
Natural variantiVAR_064096209Q → H in CLCD. 1 Publication1
Natural variantiVAR_012147209Q → R in CLCD. 1 Publication1
Natural variantiVAR_064097211A → P in CLCD. 1 Publication1
Natural variantiVAR_064098218K → E in CLCD. 1 Publication1
Natural variantiVAR_064099218K → N in CLCD; has severely impaired DNA binding and transactivation. 1 PublicationCorresponds to variant dbSNP:rs752933596Ensembl.1
Natural variantiVAR_064100218K → Q in CLCD. 1 Publication1
Natural variantiVAR_064101220T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication1
Natural variantiVAR_064102225R → L in CLCD. 1 Publication1
Natural variantiVAR_012148225R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 6 PublicationsCorresponds to variant dbSNP:rs104893991EnsemblClinVar.1
Natural variantiVAR_012149225R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 5 PublicationsCorresponds to variant dbSNP:rs104893992EnsemblClinVar.1
Natural variantiVAR_064103228R → G in CLCD. 1 Publication1
Natural variantiVAR_064104233K → R in CLCD. 1 Publication1
Natural variantiVAR_064105287D → N in CLCD. 1 Publication1
Natural variantiVAR_064106362A → V in CLCD. 1 Publication1
Natural variantiVAR_079579400 – 521Missing in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 PublicationAdd BLAST122
Natural variantiVAR_064107420T → I in CLCD. 1 Publication1
Natural variantiVAR_064108420T → N in CLCD. 1 Publication1
Natural variantiVAR_079580462 – 521Missing in CLCD; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation. 1 PublicationAdd BLAST60
Natural variantiVAR_012150511G → S1 PublicationCorresponds to variant dbSNP:rs11498198EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0059371 – 19MASNS…QNFFW → MRIPV in isoform 2. CuratedAdd BLAST19
Alternative sequenceiVSP_005938341 – 362Missing in isoform 3. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF001450 AF001449 Genomic DNA Translation: AAB65159.2
AF001450 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]

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]
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]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<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%5Freferences%5Fsection">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:
EMBLi
GenBanki
DDBJi
Links Updated
AF001450 AF001449 Genomic DNA Translation: AAB65159.2
AF001450 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
CCDSiCCDS43467.2 [Q13950-1]
CCDS43468.2 [Q13950-3]
RefSeqiNP_001015051.3, NM_001015051.3 [Q13950-3]
NP_001019801.3, NM_001024630.3 [Q13950-1]

3D structure databases

BMRBiQ13950
SMRiQ13950
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107308, 51 interactors
CORUMiQ13950
DIPiDIP-36707N
ELMiQ13950
IntActiQ13950, 19 interactors
MINTiQ13950
STRINGi9606.ENSP00000360493

PTM databases

iPTMnetiQ13950
PhosphoSitePlusiQ13950
SwissPalmiQ13950

Genetic variation databases

BioMutaiRUNX2
DMDMi17368460

Proteomic databases

EPDiQ13950
jPOSTiQ13950
MassIVEiQ13950
MaxQBiQ13950
PaxDbiQ13950
PeptideAtlasiQ13950
PRIDEiQ13950
ProteomicsDBi59767 [Q13950-1]
59768 [Q13950-2]
59769 [Q13950-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3645, 867 antibodies

The DNASU plasmid repository

More...DNASUi		860

Genome annotation databases

EnsembliENST00000359524; ENSP00000352514; ENSG00000124813 [Q13950-2]
ENST00000371432; ENSP00000360486; ENSG00000124813 [Q13950-3]
ENST00000371436; ENSP00000360491; ENSG00000124813 [Q13950-3]
ENST00000371438; ENSP00000360493; ENSG00000124813 [Q13950-1]
ENST00000647337; ENSP00000495497; ENSG00000124813 [Q13950-1]
GeneIDi860
KEGGihsa:860
UCSCiuc003oxt.5, human [Q13950-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		860
DisGeNETi860

GeneCards: human genes, protein and diseases

More...GeneCardsi		RUNX2
GeneReviewsiRUNX2
HGNCiHGNC:10472, RUNX2
HPAiENSG00000124813, Low tissue specificity
MalaCardsiRUNX2
MIMi119600, phenotype
156510, phenotype
600211, gene
neXtProtiNX_Q13950
OpenTargetsiENSG00000124813
Orphaneti1452, Cleidocranial dysplasia
2504, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
PharmGKBiPA34885
VEuPathDBiHostDB:ENSG00000124813.20

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3982, Eukaryota
GeneTreeiENSGT00940000160171
InParanoidiQ13950
OMAiXVVALGE
OrthoDBi562214at2759
PhylomeDBiQ13950
TreeFamiTF321496

Enzyme and pathway databases

PathwayCommonsiQ13950
ReactomeiR-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
SignaLinkiQ13950
SIGNORiQ13950

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		860, 42 hits in 898 CRISPR screens

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
PharosiQ13950, Tbio

Protein Ontology

More...PROi		PR:Q13950
RNActiQ13950, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000124813, Expressed in tibia and 181 other tissues
ExpressionAtlasiQ13950, baseline and differential
GenevisibleiQ13950, HS

Family and domain databases

Gene3Di2.60.40.720, 1 hit
4.10.770.10, 1 hit
InterProiView 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
PANTHERiPTHR11950, PTHR11950, 1 hit
PfamiView protein in Pfam
PF00853, Runt, 1 hit
PF08504, RunxI, 1 hit
PIRSFiPIRSF009374, TF_Runt-rel_RUNX, 1 hit
PRINTSiPR00967, ONCOGENEAML1
SUPFAMiSSF49417, SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS51062, RUNT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiRUNX2_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>AccessioniPrimary (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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: November 2, 2001
Last modified: February 10, 2021
This is version 203 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Keywords - Technical termi

Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  4. Human entries with genetic variants
    List of human entries with genetic variants
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