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Collagen, type IV, alpha 3

  (Redirected from COL4A3)

Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.[5][6]

AliasesCOL4A3, collagen type IV alpha 3 chain, ATS2, ATS3
External IDsOMIM: 120070 MGI: 104688 HomoloGene: 68033 GeneCards: COL4A3
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for COL4A3
Genomic location for COL4A3
Band2q36.3Start227,164,565 bp[1]
End227,314,792 bp[1]
RNA expression pattern
PBB GE COL4A3 216893 s at fs.png

PBB GE COL4A3 214641 at fs.png

PBB GE COL4A3 222073 at fs.png
More reference expression data
RefSeq (mRNA)


RefSeq (protein)



Location (UCSC)Chr 2: 227.16 – 227.31 MbChr 1: 82.59 – 82.72 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In Goodpasture's syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C-terminal domain. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. 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. Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand.[6]

Disease DatabaseEdit


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169031 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079465 - 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. ^ Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A, Pusey CD (Mar 1992). "Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen". J Clin Invest. 89 (2): 592–601. doi:10.1172/JCI115625. PMC 442892. PMID 1737849.
  6. ^ a b "Entrez Gene: COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)".

Further readingEdit