RUNX2
entrez
860
canonical
uniprot
Q13950
canonical
ensembl
ENSG00000124813
resolver
ensp
ENSP00000352514
resolver
ensp
ENSP00000360486
resolver
ensp
ENSP00000485863
resolver
ensp
ENSP00000495497
resolver
enst
ENST00000625924
resolver
genesymbol
RUNX2
resolver
genesymbol_syn
AML3
resolver
genesymbol_syn
CBFA1
resolver
genesymbol_syn
OSF2
resolver
genesymbol_syn
PEBP2A
resolver
hgnc
HGNC:10472
resolver
uniprot
A0A0D9SEN7
resolver
uniprot
O14614
resolver
uniprot
O14615
resolver
uniprot
O95181
resolver
uniprot
Q32MY8
resolver
uniprot_entry
A0A0D9SEN7_HUMAN
resolver
uniprot_entry
Q32MY8_HUMAN
resolver
uniprot_entry
RUNX2_HUMAN
resolver
uniprot_sec
O14614
resolver
uniprot_sec
O14615
resolver
uniprot_sec
O95181
resolver
amino_acid_sequence
MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
uniprot
proteins
disease_involvement
DISEASE: Cleidocranial dysplasia 1 (CLCD1) [MIM:119600]: A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant. {ECO:0000269|PubMed:10521292, ECO:0000269|PubMed:10545612, ECO:0000269|PubMed:10689183, ECO:0000269|PubMed:10980549, ECO:0000269|PubMed:11857736, ECO:0000269|PubMed:12081718, ECO:0000269|PubMed:12196916, ECO:0000269|PubMed:12424590, ECO:0000269|PubMed:16270353, ECO:0000269|PubMed:19744171, ECO:0000269|PubMed:20082269, ECO:0000269|PubMed:20648631, ECO:0000269|PubMed:24984680, ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28703881, ECO:0000269|PubMed:28738062, ECO:0000269|PubMed:9182765, ECO:0000269|PubMed:9207800}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) [MIM:156510]: An 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. {ECO:0000269|PubMed:23290074}. Note=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). {ECO:0000269|PubMed:23290074}.
uniprot
proteins
function
FUNCTION: Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28703881, PubMed:28738062, PubMed:16299379). 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. {ECO:0000250, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:16299379, ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28703881, ECO:0000269|PubMed:28738062}.
uniprot
proteins
mass_dalton
56648
uniprot
proteins
mutagenesis
MUTAGEN 451; /note="S->A: Reduced DNA-binding and impaired phosphorylation."; /evidence="ECO:0000269|PubMed:16407259
uniprot
proteins
post_translational_modification
PTM: 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. {ECO:0000250, ECO:0000269|PubMed:16407259}.; PTM: Ubiquitinated by the complex made of the adapter SMAD6 and the E3 ligase SMURF1, leading to proteasomal degradation. {ECO:0000269|PubMed:16299379}.
uniprot
proteins
pubmed
10521292
uniprot
proteins
pubmed
10545612
uniprot
proteins
pubmed
10689183
uniprot
proteins
pubmed
10980549
uniprot
proteins
pubmed
11857736
uniprot
proteins
pubmed
11965546
uniprot
proteins
pubmed
12081718
uniprot
proteins
pubmed
12145306
uniprot
proteins
pubmed
12196916
uniprot
proteins
pubmed
12424590
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
16270353
uniprot
proteins
pubmed
16299379
uniprot
proteins
pubmed
16407259
uniprot
proteins
pubmed
17377532
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
19744171
uniprot
proteins
pubmed
20082269
uniprot
proteins
pubmed
20648631
uniprot
proteins
pubmed
23290074
uniprot
proteins
pubmed
24984680
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28505335
uniprot
proteins
pubmed
28703881
uniprot
proteins
pubmed
28738062
uniprot
proteins
pubmed
9182765
uniprot
proteins
pubmed
9207800
uniprot
proteins
pubmed
9233771
uniprot
proteins
pubmed
9434946
uniprot
proteins
pubmed
9651525
uniprot
proteins
sequence_length
521
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28738062}. Cytoplasm {ECO:0000250|UniProtKB:Q08775}.
uniprot
proteins