UniProtKB - Q13950 (RUNX2_HUMAN)
Runt-related transcription factor 2
RUNX2
Functioni
GO - Molecular functioni
- ATP binding Source: InterPro
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- BMP signaling pathway Source: BHF-UCL
- cellular response to BMP stimulus Source: BHF-UCL
- chondrocyte differentiation Source: GO_Central
- hemopoiesis Source: GO_Central
- negative regulation of transcription, DNA-templated Source: UniProtKB
- neuron differentiation Source: GO_Central
- ossification Source: GO_Central
- osteoblast differentiation Source: UniProtKB
- positive regulation of osteoblast differentiation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- 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 transcription by RNA polymerase II Source: GO_Central
- transcription initiation from RNA polymerase II promoter Source: Reactome
Keywordsi
Molecular function | DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q13950 |
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 |
SignaLinki | Q13950 |
SIGNORi | Q13950 |
Names & Taxonomyi
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 |
Gene namesi | Name:RUNX2 Synonyms:AML3, CBFA1, OSF2, PEBP2A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10472, RUNX2 |
MIMi | 600211, gene |
neXtProti | NX_Q13950 |
VEuPathDBi | HostDB:ENSG00000124813.20 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Cytosol
- cytosol Source: Reactome
Nucleus
- nuclear chromatin Source: BHF-UCL
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cleidocranial dysplasia (CLCD)18 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064081 | 53 | Q → L in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079576 | 67 – 521 | Missing in CLCD; decreased subcellular localization in the nucleus; decreased transactivation activity. 1 PublicationAdd BLAST | 455 | |
Natural variantiVAR_012130 | 84 | A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication | 1 | |
Natural variantiVAR_012132 | 113 | L → R in CLCD; unchanged subcellular localization; decreased transactivation activity. 2 Publications | 1 | |
Natural variantiVAR_064082 | 118 | S → N in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012133 | 118 | S → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012134 | 121 | F → C in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012135 | 123 | C → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064083 | 131 | R → C in CLCD. 2 Publications | 1 | |
Natural variantiVAR_064084 | 131 | R → G in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064085 | 131 | R → S in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012136 | 133 | Missing in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064086 | 136 | L → P in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064087 | 156 | V → D in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064088 | 156 | V → G in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064089 | 169 | R → P in CLCD. 2 PublicationsCorresponds to variant dbSNP:rs104893995EnsemblClinVar. | 1 | |
Natural variantiVAR_012137 | 169 | R → Q in CLCD. 1 PublicationCorresponds to variant dbSNP:rs104893995EnsemblClinVar. | 1 | |
Natural variantiVAR_064090 | 175 | M → K in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012138 | 175 | M → R in CLCD; abolishes DNA binding. 3 PublicationsCorresponds to variant dbSNP:rs104893989EnsemblClinVar. | 1 | |
Natural variantiVAR_064091 | 175 | M → V in CLCD. 1 PublicationCorresponds to variant dbSNP:rs201647225Ensembl. | 1 | |
Natural variantiVAR_079577 | 186 | R → T in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication | 1 | |
Natural variantiVAR_064092 | 187 | F → S in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012139 | 190 | R → Q in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1057521068EnsemblClinVar. | 1 | |
Natural variantiVAR_012140 | 190 | R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications | 1 | |
Natural variantiVAR_012141 | 191 | S → N in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs104893990EnsemblClinVar. | 1 | |
Natural variantiVAR_012142 | 193 | R → C in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079578 | 193 | R → G in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication | 1 | |
Natural variantiVAR_064093 | 193 | R → Q in CLCD. 1 Publication | 1 | |
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 | 1 | |
Natural variantiVAR_012144 | 199 | L → F in CLCD; abolishes DNA binding. 1 Publication | 1 | |
Natural variantiVAR_012145 | 200 | T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 PublicationCorresponds to variant dbSNP:rs104893993EnsemblClinVar. | 1 | |
Natural variantiVAR_064094 | 200 | T → I in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064095 | 201 | I → K in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012146 | 205 | T → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064096 | 209 | Q → H in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012147 | 209 | Q → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064097 | 211 | A → P in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064098 | 218 | K → E in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064099 | 218 | K → N in CLCD; has severely impaired DNA binding and transactivation. 1 PublicationCorresponds to variant dbSNP:rs752933596Ensembl. | 1 | |
Natural variantiVAR_064100 | 218 | K → Q in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064101 | 220 | T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication | 1 | |
Natural variantiVAR_064102 | 225 | R → L in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012148 | 225 | R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 6 PublicationsCorresponds to variant dbSNP:rs104893991EnsemblClinVar. | 1 | |
Natural variantiVAR_012149 | 225 | R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 5 PublicationsCorresponds to variant dbSNP:rs104893992EnsemblClinVar. | 1 | |
Natural variantiVAR_064103 | 228 | R → G in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064104 | 233 | K → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064105 | 287 | D → N in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064106 | 362 | A → V in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079579 | 400 – 521 | Missing in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 PublicationAdd BLAST | 122 | |
Natural variantiVAR_064107 | 420 | T → I in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064108 | 420 | T → N in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079580 | 462 – 521 | Missing in CLCD; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation. 1 PublicationAdd BLAST | 60 |
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 451 | S → A: Reduced DNA-binding and impaired phosphorylation. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 860 |
GeneReviewsi | RUNX2 |
MalaCardsi | RUNX2 |
MIMi | 119600, phenotype 156510, phenotype |
OpenTargetsi | ENSG00000124813 |
Orphaneti | 1452, Cleidocranial dysplasia 2504, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
PharmGKBi | PA34885 |
Miscellaneous databases
Pharosi | Q13950, Tbio |
Genetic variation databases
BioMutai | RUNX2 |
DMDMi | 17368460 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000174659 | 1 – 521 | Runt-related transcription factor 2Add BLAST | 521 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Cross-linki | 238 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Modified residuei | 267 | Asymmetric dimethylarginineBy similarity | 1 | ||
Modified residuei | 451 | Phosphoserine; by CDK11 Publication | 1 | ||
Isoform 3 (identifier: Q13950-3) | |||||
Modified residuei | 340 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q13950 |
jPOSTi | Q13950 |
MassIVEi | Q13950 |
MaxQBi | Q13950 |
PaxDbi | Q13950 |
PeptideAtlasi | Q13950 |
PRIDEi | Q13950 |
ProteomicsDBi | 59767 [Q13950-1] 59768 [Q13950-2] 59769 [Q13950-3] |
PTM databases
iPTMneti | Q13950 |
PhosphoSitePlusi | Q13950 |
SwissPalmi | Q13950 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000124813, Expressed in tibia and 181 other tissues |
ExpressionAtlasi | Q13950, baseline and differential |
Genevisiblei | Q13950, HS |
Organism-specific databases
HPAi | ENSG00000124813, Low tissue specificity |
Interactioni
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 PublicationsBinary interactionsi
Hide detailsQ13950
With | #Exp. | IntAct |
---|---|---|
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 |
Protein-protein interaction databases
BioGRIDi | 107308, 51 interactors |
CORUMi | Q13950 |
DIPi | DIP-36707N |
ELMi | Q13950 |
IntActi | Q13950, 19 interactors |
MINTi | Q13950 |
STRINGi | 9606.ENSP00000360493 |
Miscellaneous databases
RNActi | Q13950, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 101 – 229 | RuntPROSITE-ProRule annotationAdd BLAST | 129 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 242 – 258 | Required for interaction with FOXO1By similarityAdd BLAST | 17 | |
Regioni | 336 – 439 | Interaction with KAT6ABy similarityAdd BLAST | 104 | |
Regioni | 374 – 468 | Interaction with KAT6B1 PublicationAdd BLAST | 95 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 49 – 71 | Poly-GlnAdd BLAST | 23 | |
Compositional biasi | 73 – 89 | Poly-AlaAdd BLAST | 17 | |
Compositional biasi | 237 – 521 | Pro/Ser/Thr-richAdd BLAST | 285 |
Domaini
Phylogenomic databases
eggNOGi | KOG3982, Eukaryota |
GeneTreei | ENSGT00940000160171 |
InParanoidi | Q13950 |
OMAi | XVVALGE |
OrthoDBi | 562214at2759 |
PhylomeDBi | Q13950 |
TreeFami | TF321496 |
Family and domain databases
Gene3Di | 2.60.40.720, 1 hit 4.10.770.10, 1 hit |
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 |
PANTHERi | PTHR11950, PTHR11950, 1 hit |
Pfami | View protein in Pfam PF00853, Runt, 1 hit PF08504, RunxI, 1 hit |
PIRSFi | PIRSF009374, TF_Runt-rel_RUNX, 1 hit |
PRINTSi | PR00967, ONCOGENEAML1 |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS51062, RUNT, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L0L0 | I3L0L0_HUMAN | Runt-related transcription factor 2 | RUNX2 | 542 | Annotation score: | ||
A0A0D9SEN7 | A0A0D9SEN7_HUMAN | Runt-related transcription factor | RUNX2 | 485 | Annotation score: | ||
I3L354 | I3L354_HUMAN | Runt-related transcription factor 2 | RUNX2 | 276 | Annotation score: | ||
A0A2R8Y7Z3 | A0A2R8Y7Z3_HUMAN | Runt-related transcription factor 2 | RUNX2 | 334 | Annotation score: | ||
I3L4L9 | I3L4L9_HUMAN | Runt-related transcription factor 2 | RUNX2 | 37 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 16 | N → S in AAC77441 (PubMed:9651525).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064081 | 53 | Q → L in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079576 | 67 – 521 | Missing in CLCD; decreased subcellular localization in the nucleus; decreased transactivation activity. 1 PublicationAdd BLAST | 455 | |
Natural variantiVAR_012131 | 78 – 83 | Missing 1 Publication | 6 | |
Natural variantiVAR_012130 | 84 | A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication | 1 | |
Natural variantiVAR_012132 | 113 | L → R in CLCD; unchanged subcellular localization; decreased transactivation activity. 2 Publications | 1 | |
Natural variantiVAR_064082 | 118 | S → N in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012133 | 118 | S → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012134 | 121 | F → C in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012135 | 123 | C → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064083 | 131 | R → C in CLCD. 2 Publications | 1 | |
Natural variantiVAR_064084 | 131 | R → G in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064085 | 131 | R → S in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012136 | 133 | Missing in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064086 | 136 | L → P in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064087 | 156 | V → D in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064088 | 156 | V → G in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064089 | 169 | R → P in CLCD. 2 PublicationsCorresponds to variant dbSNP:rs104893995EnsemblClinVar. | 1 | |
Natural variantiVAR_012137 | 169 | R → Q in CLCD. 1 PublicationCorresponds to variant dbSNP:rs104893995EnsemblClinVar. | 1 | |
Natural variantiVAR_064090 | 175 | M → K in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012138 | 175 | M → R in CLCD; abolishes DNA binding. 3 PublicationsCorresponds to variant dbSNP:rs104893989EnsemblClinVar. | 1 | |
Natural variantiVAR_064091 | 175 | M → V in CLCD. 1 PublicationCorresponds to variant dbSNP:rs201647225Ensembl. | 1 | |
Natural variantiVAR_079577 | 186 | R → T in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication | 1 | |
Natural variantiVAR_064092 | 187 | F → S in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012139 | 190 | R → Q in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1057521068EnsemblClinVar. | 1 | |
Natural variantiVAR_012140 | 190 | R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications | 1 | |
Natural variantiVAR_012141 | 191 | S → N in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs104893990EnsemblClinVar. | 1 | |
Natural variantiVAR_012142 | 193 | R → C in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079578 | 193 | R → G in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication | 1 | |
Natural variantiVAR_064093 | 193 | R → Q in CLCD. 1 Publication | 1 | |
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 | 1 | |
Natural variantiVAR_012144 | 199 | L → F in CLCD; abolishes DNA binding. 1 Publication | 1 | |
Natural variantiVAR_012145 | 200 | T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 PublicationCorresponds to variant dbSNP:rs104893993EnsemblClinVar. | 1 | |
Natural variantiVAR_064094 | 200 | T → I in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064095 | 201 | I → K in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012146 | 205 | T → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064096 | 209 | Q → H in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012147 | 209 | Q → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064097 | 211 | A → P in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064098 | 218 | K → E in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064099 | 218 | K → N in CLCD; has severely impaired DNA binding and transactivation. 1 PublicationCorresponds to variant dbSNP:rs752933596Ensembl. | 1 | |
Natural variantiVAR_064100 | 218 | K → Q in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064101 | 220 | T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication | 1 | |
Natural variantiVAR_064102 | 225 | R → L in CLCD. 1 Publication | 1 | |
Natural variantiVAR_012148 | 225 | R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 6 PublicationsCorresponds to variant dbSNP:rs104893991EnsemblClinVar. | 1 | |
Natural variantiVAR_012149 | 225 | R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 5 PublicationsCorresponds to variant dbSNP:rs104893992EnsemblClinVar. | 1 | |
Natural variantiVAR_064103 | 228 | R → G in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064104 | 233 | K → R in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064105 | 287 | D → N in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064106 | 362 | A → V in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079579 | 400 – 521 | Missing in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 PublicationAdd BLAST | 122 | |
Natural variantiVAR_064107 | 420 | T → I in CLCD. 1 Publication | 1 | |
Natural variantiVAR_064108 | 420 | T → N in CLCD. 1 Publication | 1 | |
Natural variantiVAR_079580 | 462 – 521 | Missing in CLCD; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation. 1 PublicationAdd BLAST | 60 | |
Natural variantiVAR_012150 | 511 | G → S1 PublicationCorresponds to variant dbSNP:rs11498198EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005937 | 1 – 19 | MASNS…QNFFW → MRIPV in isoform 2. CuratedAdd BLAST | 19 | |
Alternative sequenceiVSP_005938 | 341 – 362 | Missing in isoform 3. 1 PublicationAdd BLAST | 22 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links 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 |
CCDSi | CCDS43467.2 [Q13950-1] CCDS43468.2 [Q13950-3] |
RefSeqi | NP_001015051.3, NM_001015051.3 [Q13950-3] NP_001019801.3, NM_001024630.3 [Q13950-1] |
Genome annotation databases
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] |
GeneIDi | 860 |
KEGGi | hsa:860 |
UCSCi | uc003oxt.5, human [Q13950-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links 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 |
CCDSi | CCDS43467.2 [Q13950-1] CCDS43468.2 [Q13950-3] |
RefSeqi | NP_001015051.3, NM_001015051.3 [Q13950-3] NP_001019801.3, NM_001024630.3 [Q13950-1] |
3D structure databases
BMRBi | Q13950 |
SMRi | Q13950 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107308, 51 interactors |
CORUMi | Q13950 |
DIPi | DIP-36707N |
ELMi | Q13950 |
IntActi | Q13950, 19 interactors |
MINTi | Q13950 |
STRINGi | 9606.ENSP00000360493 |
PTM databases
iPTMneti | Q13950 |
PhosphoSitePlusi | Q13950 |
SwissPalmi | Q13950 |
Genetic variation databases
BioMutai | RUNX2 |
DMDMi | 17368460 |
Proteomic databases
EPDi | Q13950 |
jPOSTi | Q13950 |
MassIVEi | Q13950 |
MaxQBi | Q13950 |
PaxDbi | Q13950 |
PeptideAtlasi | Q13950 |
PRIDEi | Q13950 |
ProteomicsDBi | 59767 [Q13950-1] 59768 [Q13950-2] 59769 [Q13950-3] |
Protocols and materials databases
Antibodypediai | 3645, 867 antibodies |
DNASUi | 860 |
Genome annotation databases
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] |
GeneIDi | 860 |
KEGGi | hsa:860 |
UCSCi | uc003oxt.5, human [Q13950-1] |
Organism-specific databases
CTDi | 860 |
DisGeNETi | 860 |
GeneCardsi | RUNX2 |
GeneReviewsi | RUNX2 |
HGNCi | HGNC:10472, RUNX2 |
HPAi | ENSG00000124813, Low tissue specificity |
MalaCardsi | RUNX2 |
MIMi | 119600, phenotype 156510, phenotype 600211, gene |
neXtProti | NX_Q13950 |
OpenTargetsi | ENSG00000124813 |
Orphaneti | 1452, Cleidocranial dysplasia 2504, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
PharmGKBi | PA34885 |
VEuPathDBi | HostDB:ENSG00000124813.20 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3982, Eukaryota |
GeneTreei | ENSGT00940000160171 |
InParanoidi | Q13950 |
OMAi | XVVALGE |
OrthoDBi | 562214at2759 |
PhylomeDBi | Q13950 |
TreeFami | TF321496 |
Enzyme and pathway databases
PathwayCommonsi | Q13950 |
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 |
SignaLinki | Q13950 |
SIGNORi | Q13950 |
Miscellaneous databases
BioGRID-ORCSi | 860, 42 hits in 898 CRISPR screens |
ChiTaRSi | RUNX2, human |
GeneWikii | RUNX2 |
GenomeRNAii | 860 |
Pharosi | Q13950, Tbio |
PROi | PR:Q13950 |
RNActi | Q13950, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124813, Expressed in tibia and 181 other tissues |
ExpressionAtlasi | Q13950, baseline and differential |
Genevisiblei | Q13950, HS |
Family and domain databases
Gene3Di | 2.60.40.720, 1 hit 4.10.770.10, 1 hit |
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 |
PANTHERi | PTHR11950, PTHR11950, 1 hit |
Pfami | View protein in Pfam PF00853, Runt, 1 hit PF08504, RunxI, 1 hit |
PIRSFi | PIRSF009374, TF_Runt-rel_RUNX, 1 hit |
PRINTSi | PR00967, ONCOGENEAML1 |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS51062, RUNT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RUNX2_HUMAN | |
Accessioni | Q13950Primary (citable) accession number: Q13950 Secondary accession number(s): O14614, O14615, O95181 | |
Entry historyi | Integrated 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. | ||
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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants