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: MFF-DT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1060499654 in COL4A3;MFF-DT gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

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

PMID 7987301 1994 Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

PMID 14582039 2003 Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11134255 2001 Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

PMID 24052634 2013 COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

PMID 7987396 1994 Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

PMID 27627812 2016 X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

PMID 11044206 2000 Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

PMID 22166944 2012 Clinical utility gene card for: Alport syndrome.

PMID 28542346 2017 Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

PMID 27281700 2016 Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

PMID 24854265 2014 Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

PMID 15954103 2005 Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

PMID 18436078 2008 Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.

rs573527081 in COL4A3;MFF-DT gene and ALPORT SYNDROME 3, AUTOSOMAL DOMINANT PMID 30828794 2019 Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

rs11884770 in COL4A3;MFF-DT gene and Age related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs4608502 in COL4A3;MFF-DT gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs7606754 in COL4A3;MFF-DT gene and Corneal Topography PMID 23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

rs11884770 in COL4A3;MFF-DT gene and Exudative age-related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs11884770 in COL4A3;MFF-DT gene and Geographic Atrophy PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs121912826 in COL4A3;MFF-DT gene and Hematuria, Benign Familial PMID 11961012 2002 Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

rs11677877 in COL4A3;MFF-DT gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs4608502 in COL4A3;MFF-DT gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs143937055 in COL4A3;MFF-DT gene and Tonometry PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs11884770 in COL4A3;MFF-DT gene and exudative macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.