Entity Details

Primary name COL4A6
Entity type gene
Source Source Link

Details

PrimaryID1288
RefseqGeneNG_012059
SymbolCOL4A6
Namecollagen type IV alpha 6 chain
ChromosomeX
LocationXq22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCO4A6_HUMAN

GO terms

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GOName
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005587 collagen type IV trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0007155 cell adhesion
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0031012 extracellular matrix
GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway
GO:0062023 collagen-containing extracellular matrix

Diseases

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Disease IDSourceNameDescription
300914 OMIMDeafness, X-linked, 6 (DFNX6)A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.