COL4A6
Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:303631 Ensembl IDEnsembl:ENSG00000197565 HGNC IDHGNC:HGNC:2208 PHARMGKB IDPA26723 Map LocationXq22.3 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in COL4A6
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005587 | collagen type IV trimer |
| CC | NAS | GO:0005587 | collagen type IV trimer |
| CC | IBA | GO:0005615 | extracellular space |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| BP | IEA | GO:0007155 | cell adhesion |
Gene expression in normal tissue: COL4A6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in COL4A6
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | intrinsicpathway | intrinsic prothrombin activation pathway |
| biocarta | npp1pathway | regulators of bone mineralization |
| 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
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD536 | PLX-4720 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in COL4A6
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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