Collagen, type IV, alpha 4

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COL4A4
Identifiers
Aliases COL4A4, CA44, collagen type IV alpha 4, collagen type IV alpha 4 chain
External IDs MGI: 104687 HomoloGene: 20071 GeneCards: COL4A4
Genetically Related Diseases
smallpox[1]
RNA expression pattern
PBB GE COL4A4 214602 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000092

NM_007735

RefSeq (protein)

NP_000083

NP_031761.1
NP_031761

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

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

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.[5]

Disease Database[edit]

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

References[edit]

  1. ^ "Diseases that are genetically associated with COL4A4 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: COL4A4 collagen, type IV, alpha 4". 

Further reading[edit]