Collagen, type IV, alpha 4

Collagen alpha-4(IV) chain is a protein that in humans is encoded by the COL4A4 gene.^[5][6]

COL4A4
Identifiers
Aliases	COL4A4, CA44, collagen type IV alpha 4, collagen type IV alpha 4 chain, BFH, ATS2
External IDs	OMIM: 120131; MGI: 104687; HomoloGene: 20071; GeneCards: COL4A4; OMA:COL4A4 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q36.3 Start 227,002,714 bp[1] End 227,164,453 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 C5 Start 82,426,144 bp[2] End 82,564,570 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla retinal pigment epithelium tail of epididymis right coronary artery left coronary artery caput epididymis visceral pleura ascending aorta right auricle human kidney Top expressed in epithelium of lens right lung lobe retinal pigment epithelium left lung lobe efferent ductule iris vestibular membrane of cochlear duct human kidney right kidney ciliary body 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 extracellular region basement membrane collagen collagen type IV trimer endoplasmic reticulum lumen extracellular space extracellular matrix collagen-containing extracellular matrix Biological process extracellular matrix organization glomerular basement membrane development angiogenesis endothelial cell morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1286 12829 Ensembl ENSG00000081052 ENSMUSG00000067158 UniProt P53420 Q9QZR9 RefSeq (mRNA) NM_000092 NM_007735 RefSeq (protein) NP_000083 NP_031761 Location (UCSC) Chr 2: 227 – 227.16 Mb Chr 1: 82.43 – 82.56 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. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR.^[6]

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