| Tag | Content |
|---|---|
| Uniprot ID | Q08775; O35183; Q08776; Q9JLN0; Q9QUQ6; Q9QY29; Q9R0U4; Q9Z2J7; |
| Entrez ID | 12393 |
| Genbank protein ID | BAA03486.1; AAC77440.1; AAF22569.1; BAA85345.1; BAA03485.1; AAB65409.1; BAA85346.1; AAB82419.1; AAF73290.1; AAC78623.1; AAF22568.1; AAC78626.1; |
| Genbank nucleotide ID | NM_001271627.1; NM_001146038.2; XM_006523545.2; NM_009820.5; XM_006523544.2; |
| Ensembl protein ID | ENSMUSP00000158748; ENSMUSP00000109201; ENSMUSP00000123743; ENSMUSP00000124918; |
| Ensembl nucleotide ID | ENSMUSG00000039153 |
| Gene name | Runt-related transcription factor 2 |
| Gene symbol | Runx2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E14.5, E16.5 |
| Data sources | Manually collected |
| Reference | 9182764; 30660360; |
| Functional description | Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. 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. Inhibits KAT6B-dependent transcriptional activation (By similarity). In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). |
| Sequence | MLHSPHKQPQ NHKCGANFLQ EDCKKALAFK WLISAGHYQP PRPTESVSAL TTVHAGIFKA 60 ASSIYNRGHK FYLEKKGGTM ASNSLFSAVT PCQQSFFWDP STSRRFSPPS SSLQPGKMSD 120 VSPVVAAQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQEAAA AAAAAAAAAA AAAAAVPRLR 180 PPHDNRTMVE IIADHPAELV RTDSPNFLCS VLPSHWRCNK TLPVAFKVVA LGEVPDGTVV 240 TVMAGNDENY SAELRNASAV MKNQVARFND LRFVGRSGRG KSFTLTITVF TNPPQVATYH 300 RAIKVTVDGP REPRRHRQKL DDSKPSLFSD RLSDLGRIPH PSMRVGVPPQ NPRPSLNSAP 360 SPFNPQGQSQ ITDPRQAQSS PPWSYDQSYP SYLSQMTSPS IHSTTPLSST RGTGLPAITD 420 VPRRISDDDT ATSDFCLWPS SLSKKSQAGA SELGPFSDPR QFPSISSLTE SRFSNPRMHY 480 PATFTYTPPV TSGMSLGMSA TTHYHTYLPP PYPGSSQSQS GPFQTSSTPY LYYGTSSASY 540 QFPMVPGGDR SPSRMVPPCT TTSNGSTLLN PNLPNQNDGV DADGSHSSSP TVLNSSGRMD 600 ESVWRPY 607 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | RUNX2 | 102183278 | A0A452ETJ7 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | RUNX2 | 860 | Q13950 | CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Runx2 | 12393 | Q08775 | CPO | E14.5, E16.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | RUNX2 | A0A2J8P0L4 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | Runx2 | 367218 | F1M9C5 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | runx2a | F1R272 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| RUNX2 | rs545289 | Genotyping; TDT | 22241686 |
| RUNX2 | rs2153277 | Genotyping; TDT | 22241686 |
| RUNX2 | rs1200426 | Genotyping; TDT | 22241686 |
| RUNX2 | rs1200425 | Genotyping; TDT | 22241686 |
| RUNX2 | rs9395112 | Genotyping; TDT | 22241686 |
| RUNX2 | rs2782660 | Genotyping; TDT | 22241686 |
| RUNX2 | rs1934328 | Genotyping; TDT | 18357615 |
| RUNX2 | rs910586 | Genotyping; TDT | 18357615 |
| RUNX2 | rs2819861 | Genotyping; TDT | 18357615 |
| RUNX2 | rs1934328 | Genotyping; TDT | 23909516 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IGI |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA |
| GO:0003682 | chromatin binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0003700 | DNA-binding transcription factor activity | TAS |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0008134 | transcription factor binding | ISO |
| GO:0019904 | protein domain specific binding | IPI |
| GO:0042826 | histone deacetylase binding | ISO |
| GO:0043425 | bHLH transcription factor binding | IPI |
| GO:0044212 | transcription regulatory region DNA binding | IDA |
| GO:0070491 | repressing transcription factor binding | IPI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001501 | skeletal system development | IMP |
| GO:0001503 | ossification | IBA |
| GO:0001649 | osteoblast differentiation | ISO |
| GO:0001649 | osteoblast differentiation | IMP |
| GO:0001649 | osteoblast differentiation | IGI |
| GO:0001958 | endochondral ossification | IMP |
| GO:0002051 | osteoblast fate commitment | IGI |
| GO:0002062 | chondrocyte differentiation | IGI |
| GO:0002062 | chondrocyte differentiation | IBA |
| GO:0002062 | chondrocyte differentiation | IMP |
| GO:0002063 | chondrocyte development | IMP |
| GO:0002076 | osteoblast development | IGI |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0008284 | positive regulation of cell population proliferation | IMP |
| GO:0008284 | positive regulation of cell population proliferation | IGI |
| GO:0010468 | regulation of gene expression | IDA |
| GO:0010628 | positive regulation of gene expression | IDA |
| GO:0030097 | hemopoiesis | IBA |
| GO:0030182 | neuron differentiation | IBA |
| GO:0030217 | T cell differentiation | IDA |
| GO:0030278 | regulation of ossification | IMP |
| GO:0030509 | BMP signaling pathway | IMP |
| GO:0032332 | positive regulation of chondrocyte differentiation | IMP |
| GO:0035115 | embryonic forelimb morphogenesis | IMP |
| GO:0040036 | regulation of fibroblast growth factor receptor signaling pathway | IMP |
| GO:0042475 | odontogenesis of dentin-containing tooth | IMP |
| GO:0042487 | regulation of odontogenesis of dentin-containing tooth | IMP |
| GO:0045595 | regulation of cell differentiation | IBA |
| GO:0045667 | regulation of osteoblast differentiation | IDA |
| GO:0045669 | positive regulation of osteoblast differentiation | ISO |
| GO:0045669 | positive regulation of osteoblast differentiation | IGI |
| GO:0045669 | positive regulation of osteoblast differentiation | IDA |
| GO:0045778 | positive regulation of ossification | ISO |
| GO:0045879 | negative regulation of smoothened signaling pathway | IMP |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0048469 | cell maturation | IGI |
| GO:0048469 | cell maturation | IMP |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IGI |
| GO:0048705 | skeletal system morphogenesis | IMP |
| GO:0048863 | stem cell differentiation | IDA |
| GO:0071773 | cellular response to BMP stimulus | IMP |
| GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000790 | nuclear chromatin | IDA |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005829 | cytosol | TAS |
| GO:0032991 | protein-containing complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| R-MMU-8878166 | Transcriptional regulation by RUNX2 | IEA |
| R-MMU-8939902 | Regulation of RUNX2 expression and activity | IEA |
| R-MMU-8940973 | RUNX2 regulates osteoblast differentiation | IEA |
| R-MMU-8941326 | RUNX2 regulates bone development | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0221 | Differentiation |
| KW-0903 | Direct protein sequencing |
| KW-0238 | DNA-binding |
| KW-1017 | Isopeptide bond |
| KW-0488 | Methylation |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0832 | Ubl conjugation |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51062 | RUNT |