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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
collagen type IV alpha 6 chainMIM:303631Ensembl:ENSG00000197565HGNC:HGNC:2208PA26723Xq22.3

Gene Categories:

DRUGGABLE GENOME

GO terms in COL4A6


Term TypeEvidence TypeGO Term IDGO Des.
CCTASGO:0005576extracellular region
CCIBAGO:0005587collagen type IV trimer
CCNASGO:0005587collagen type IV trimer
CCIBAGO:0005615extracellular space
CCTASGO:0005788endoplasmic reticulum lumen
BPIEAGO:0007155cell adhesion
BPIBAGO:0030198extracellular matrix organization
BPTASGO:0030198extracellular matrix organization
BPIBAGO:0038063collagen-activated tyrosine kinase receptor signaling pathway
MFIBAGO:0005201extracellular matrix structural constituent
MFIEAGO:0005201extracellular matrix structural constituent

Gene expression in normal tissue: COL4A6

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in COL4A6


DatabasePathway IDPathway Des.
biocartaintrinsicpathwayintrinsic prothrombin activation pathway
biocartanpp1pathwayregulators of bone mineralization
reactomeR-HSA-1442490Collagen degradation
reactomeR-HSA-1442490Collagen degradation
reactomeR-HSA-1474228Degradation of the extracellular matrix
reactomeR-HSA-1474228Degradation of the extracellular matrix
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474290Collagen formation
reactomeR-HSA-1650814Collagen biosynthesis and modifying enzymes
reactomeR-HSA-2022090Assembly of collagen fibrils and other multimeric structures
reactomeR-HSA-216083Integrin cell surface interactions
reactomeR-HSA-216083Integrin cell surface interactions
reactomeR-HSA-2214320Anchoring fibril formation
reactomeR-HSA-2243919Crosslinking of collagen fibrils
reactomeR-HSA-3000157Laminin interactions
reactomeR-HSA-3000157Laminin interactions
reactomeR-HSA-3000171Non-integrin membrane-ECM interactions
reactomeR-HSA-3000178ECM proteoglycans
reactomeR-HSA-8948216Collagen chain trimerization
wikipathwaysWP306Focal Adhesion
wikipathwaysWP3395Cellular response to heat stress
wikipathwaysWP3932Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
wikipathwaysWP3980Protein alkylation leading to liver fibrosis
wikipathwaysWP4172PI3K-Akt Signaling Pathway
wikipathwaysWP4239EMT transition in Colorectal Cancer
pidavb3_integrin_pathwayIntegrins in angiogenesis
pidintegrin1_pathwayBeta1 integrin cell surface interactions
pidintegrin3_pathwayBeta3 integrin cell surface interactions
pidsyndecan_1_pathwaySyndecan-1-mediated signaling events
pharmgkbPA154444041Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
kegghsa04151PI3K-Akt signaling pathway - Homo sapiens (human)
kegghsa04510Focal adhesion - Homo sapiens (human)
kegghsa04512ECM-receptor interaction - Homo sapiens (human)
kegghsa04926Relaxin signaling pathway - Homo sapiens (human)
kegghsa04933AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human)
kegghsa04974Protein digestion and absorption - Homo sapiens (human)
kegghsa05146Amoebiasis - Homo sapiens (human)
kegghsa05165Human papillomavirus infection - Homo sapiens (human)
kegghsa05200Pathways in cancer - Homo sapiens (human)
kegghsa05222Small cell lung cancer - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD536PLX-47201

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in COL4A6

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