RUNX2
Summary: This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| runt related transcription factor 2 | MIM:600211 | Ensembl:ENSG00000124813 | HGNC:HGNC:10472 | PA34885 | 6p21.1 |
GO terms in RUNX2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0001503 | ossification |
| BP | IEP | GO:0001649 | osteoblast differentiation |
| BP | TAS | GO:0001649 | osteoblast differentiation |
| BP | IEA | GO:0001958 | endochondral ossification |
| BP | IEA | GO:0002051 | osteoblast fate commitment |
| BP | IEA | GO:0002063 | chondrocyte development |
| BP | IEA | GO:0002076 | osteoblast development |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | IEA | GO:0008284 | positive regulation of cell proliferation |
| BP | IBA | GO:0030097 | hemopoiesis |
| BP | IBA | GO:0030182 | neuron differentiation |
| BP | IEA | GO:0030217 | T cell differentiation |
| BP | ISS | GO:0030509 | BMP signaling pathway |
| BP | IEA | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IEA | GO:0035115 | embryonic forelimb morphogenesis |
| BP | IEA | GO:0040036 | regulation of fibroblast growth factor receptor signaling pathway |
| BP | IEA | GO:0042475 | odontogenesis of dentin-containing tooth |
| BP | IEA | GO:0042487 | regulation of odontogenesis of dentin-containing tooth |
| BP | IBA | GO:0045595 | regulation of cell differentiation |
| BP | IMP | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | IEA | GO:0045879 | negative regulation of smoothened signaling pathway |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048469 | cell maturation |
| BP | IEA | GO:0048701 | embryonic cranial skeleton morphogenesis |
| BP | IEA | GO:0048863 | stem cell differentiation |
| BP | ISS | GO:0071773 | cellular response to BMP stimulus |
| BP | ISS | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus |
| CC | ISS | GO:0000790 | nuclear chromatin |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005667 | transcription factor complex |
| CC | TAS | GO:0005829 | cytosol |
| MF | IEA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IEA | GO:0019904 | protein domain specific binding |
| MF | IEA | GO:0043425 | bHLH transcription factor binding |
| MF | IEA | GO:0070491 | repressing transcription factor binding |
Gene expression in normal tissue: RUNX2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RUNX2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP138 | Androgen receptor signaling pathway |
| wikipathways | WP1425 | Bone Morphogenic Protein (BMP) Signalling and Regulation |
| wikipathways | WP2023 | Cell Differentiation - Index expanded |
| wikipathways | WP2332 | Interleukin-11 Signaling Pathway |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP3668 | Hypothesized Pathways in Pathogenesis of Cardiovascular Disease |
| wikipathways | WP3859 | TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition |
| wikipathways | WP3892 | Development of pulmonary dendritic cells and macrophage subsets |
| wikipathways | WP3971 | Role of Osx and miRNAs in tooth development |
| wikipathways | WP474 | Endochondral Ossification |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| pid | fgf_pathway | FGF signaling pathway |
| pid | hes_heypathway | Notch-mediated HES/HEY network |
| pid | rb_1pathway | Regulation of retinoblastoma protein |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| netpath | Pathway_AndrogenReceptor | AndrogenReceptor |
| netpath | Pathway_Leptin | Leptin |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| reactome | R-HSA-2032785 | YAP1- and WWTR1 (TAZ)-stimulated gene expression |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8939246 | RUNX1 regulates transcription of genes involved in differentiation of myeloid cells |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941284 | RUNX2 regulates chondrocyte maturation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-8941332 | RUNX2 regulates genes involved in cell migration |
| reactome | R-HSA-8941332 | RUNX2 regulates genes involved in cell migration |
| reactome | R-HSA-8941333 | RUNX2 regulates genes involved in differentiation of myeloid cells |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD387 | CHIR-99021 | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD341 | Triacsin c | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD271 | Brefeldin A | 3 |
| iGMDRD202 | Curcumin | 6 |
| iGMDRD5 | Tyrphostin AG 1478 | 3 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD524 | ISX-9 | 1 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD398 | Sepantronium | 5 |
| iGMDRD780 | PP-30 | 2 |
| iGMDRD329 | Merck60 | 6 |
| iGMDRD506 | Fedratinib | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RUNX2
CLASSFICATION
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