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 |
|---|---|---|---|---|---|
OMIM IDMIM:600211 Ensembl IDEnsembl:ENSG00000124813 HGNC IDHGNC:HGNC:10472 PHARMGKB IDPA34885 Map Location6p21.1 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RUNX2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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