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 |
|---|---|---|---|---|---|
| collagen type IV alpha 6 chain | MIM:303631 | Ensembl:ENSG00000197565 | HGNC:HGNC:2208 | PA26723 | Xq22.3 |
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 |
| BP | IBA | GO:0030198 | extracellular matrix organization |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | IBA | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway |
| MF | IBA | GO:0005201 | extracellular matrix structural constituent |
| MF | IEA | GO:0005201 | extracellular matrix structural constituent |
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 |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474290 | Collagen formation |
| reactome | R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| reactome | R-HSA-2022090 | Assembly of collagen fibrils and other multimeric structures |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-2214320 | Anchoring fibril formation |
| reactome | R-HSA-2243919 | Crosslinking of collagen fibrils |
| reactome | R-HSA-3000157 | Laminin interactions |
| reactome | R-HSA-3000157 | Laminin interactions |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-3000178 | ECM proteoglycans |
| reactome | R-HSA-8948216 | Collagen chain trimerization |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP3395 | Cellular response to heat stress |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP3980 | Protein alkylation leading to liver fibrosis |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| pid | avb3_integrin_pathway | Integrins in angiogenesis |
| pid | integrin1_pathway | Beta1 integrin cell surface interactions |
| pid | integrin3_pathway | Beta3 integrin cell surface interactions |
| pid | syndecan_1_pathway | Syndecan-1-mediated signaling events |
| pharmgkb | PA154444041 | Platelet Aggregation Inhibitor Pathway, Pharmacodynamics |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04512 | ECM-receptor interaction - Homo sapiens (human) |
| kegg | hsa04926 | Relaxin signaling pathway - Homo sapiens (human) |
| kegg | hsa04933 | AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human) |
| kegg | hsa04974 | Protein digestion and absorption - Homo sapiens (human) |
| kegg | hsa05146 | Amoebiasis - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05222 | Small cell lung cancer - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in COL4A6
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.