Collagen, type IV, alpha 6

Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.^[5][6]

COL4A6
Identifiers
Aliases	COL4A6, CXDELq22.3, DELXq22.3, DFNX6, collagen type IV alpha 6, collagen type IV alpha 6 chain
External IDs	OMIM: 303631; MGI: 2152695; HomoloGene: 48050; GeneCards: COL4A6; OMA:COL4A6 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq22.3 Start 108,155,607 bp[1] End 108,439,497 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F1- F2 Start 139,948,399 bp[2] End 140,257,072 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa ventricular zone seminal vesicula urethra urinary bladder body of uterus left uterine tube mucosa of urinary bladder tail of epididymis decidua Top expressed in lens uterus urinary bladder mesonephros facial skeleton neurocranium skeleton membranous bone Dermatocranium mandible More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength Cellular component collagen type IV trimer endoplasmic reticulum lumen basement membrane collagen extracellular region extracellular space extracellular matrix collagen-containing extracellular matrix Biological process cell adhesion extracellular matrix organization collagen-activated tyrosine kinase receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1288 94216 Ensembl ENSG00000197565 ENSMUSG00000031273 UniProt Q14031 n/a RefSeq (mRNA) NM_001287758 NM_001287759 NM_001287760 NM_001847 NM_033641 NM_053185 RefSeq (protein) NP_001274687 NP_001274688 NP_001274689 NP_001838 NP_378667 NP_001274688.1 n/a Location (UCSC) Chr X: 108.16 – 108.44 Mb Chr X: 139.95 – 140.26 Mb PubMed search [3] [4]
Wikidata
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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. Two splice variants have been identified for this gene.^[6]