TGFB2
Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:190220 Ensembl IDEnsembl:ENSG00000092969 HGNC IDHGNC:HGNC:11768 PHARMGKB IDPA36482 Map Location1q41 | |||||
GO terms in TGFB2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005615 | extracellular space |
| CC | ISS | GO:0030424 | axon |
| CC | TAS | GO:0031093 | platelet alpha granule lumen |
Gene expression in normal tissue: TGFB2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TGFB2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2870 | Extracellular vesicle-mediated signaling in recipient cells |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
| wikipathways | WP382 | MAPK Signaling Pathway |
| wikipathways | WP400 | p38 MAPK Signaling Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TGFB2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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