TGFB3
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. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:190230 Ensembl IDEnsembl:ENSG00000119699 HGNC IDHGNC:HGNC:11769 PHARMGKB IDPA36483 Map Location14q24.3 | |||||
GO terms in TGFB3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IEA | GO:0005634 | nucleus |
| CC | IC | GO:0005886 | plasma membrane |
| CC | IEA | GO:0009986 | cell surface |
| CC | IEA | GO:0030315 | T-tubule |
Gene expression in normal tissue: TGFB3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TGFB3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | alkpathway | alk in cardiac myocytes |
| biocarta | ctcfpathway | ctcf: first multivalent nuclear factor |
| biocarta | il1rpathway | signal transduction through il1r |
| biocarta | nthipathway | nfkb activation by nontypeable hemophilus influenzae |
| biocarta | tgfbpathway | tgf beta signaling pathway |
| reactome | R-HSA-109582 | Hemostasis |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TGFB3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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