Collagen, type IV, alpha 4

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AliasesCOL4A4, CA44, collagen type IV alpha 4, collagen type IV alpha 4 chain, BFH, ATS2
External IDsOMIM: 120131 MGI: 104687 HomoloGene: 20071 GeneCards: COL4A4
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for COL4A4
Genomic location for COL4A4
Band2q36.3Start227,002,711 bp[1]
End227,164,453 bp[1]
RNA expression pattern
PBB GE COL4A4 214602 at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 2: 227 – 227.16 MbChr 1: 82.45 – 82.59 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

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

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]

Disease Database[edit]

LOVD Alport gene variant databases (COL4A4, COL4A3, COL4A5)


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000081052 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067158 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Mariyama M, Zheng K, Yang-Feng TL, Reeders ST (Aug 1992). "Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37". Genomics. 13 (3): 809–13. doi:10.1016/0888-7543(92)90157-N. PMID 1639407.
  6. ^ a b "Entrez Gene: COL4A4 collagen, type IV, alpha 4".

Further reading[edit]