COL3A1
Summary: This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:120180 Ensembl IDEnsembl:ENSG00000168542 HGNC IDHGNC:HGNC:2201 PHARMGKB IDPA26716 Map Location2q32.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in COL3A1
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | HDA | GO:0005576 | extracellular region |
CC | TAS | GO:0005576 | extracellular region |
CC | IBA | GO:0005586 | collagen type III trimer |
CC | IDA | GO:0005586 | collagen type III trimer |
CC | IMP | GO:0005586 | collagen type III trimer |
CC | NAS | GO:0005586 | collagen type III trimer |
Gene expression in normal tissue: COL3A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in COL3A1
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Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1266738 | Developmental Biology |
reactome | R-HSA-1280218 | Adaptive Immune System |
reactome | R-HSA-1442490 | Collagen degradation |
reactome | R-HSA-1442490 | Collagen degradation |
reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in COL3A1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |