Gene: COL4A3

Alternate names for this Gene: ATS2|ATS3

Gene Summary: 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 the Goodpasture 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. 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q36.3

Description of this Gene: collagen type IV alpha 3 chain

Type of Gene: protein-coding

Gene: COL4A4

Alternate names for this Gene: ATS2|BFH|CA44

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q36.3

Description of this Gene: collagen type IV alpha 4 chain

Type of Gene: protein-coding

rs876657397 in COL4A3;COL4A4 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 23927549 2014 A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

PMID 28570636 2017 Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

PMID 22887978 2012 Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

PMID 24633401 2014 Natural history of genetically proven autosomal recessive Alport syndrome.