COL4A3 Chromosome 2
Collagen type IV alpha 3 chain
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What This Gene Does
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. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Network forming collagens
Locus Type
gene with protein product
Location
2q36.3
Ensembl
ENSG00000169031
Associated Conditions (27)
Autosomal dominant Alport syndrome
Hematuria
benign familial
2
Alport syndrome 3b
autosomal recessive
Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Inborn genetic diseases
Chronic kidney disease
COL4A3-related disorder
focal and segmental glomerulosclerosis
Kidney disorder
Hearing impairment
Uterine corpus endometrial carcinoma
Osteogenesis imperfecta
Nephrotic syndrome
Collagen IV-related nephropathies
Hereditary hearing loss and deafness
+7 more conditions
Key Variants
RS1008678288
Conflicting classifications of pathogenicity
Health Risk
RS1032938979
Conflicting classifications of pathogenicity
Autosomal dominant Alport syndrome, Hematuria, benign familial
Health Risk
RS1043352257
Conflicting classifications of pathogenicity
Autosomal dominant Alport syndrome, Hematuria, benign familial
Health Risk
RS1045022382
Conflicting classifications of pathogenicity
Autosomal dominant Alport syndrome, Hematuria, benign familial
Health Risk
RS1135401954
Conflicting classifications of pathogenicity
Alport syndrome, Alport syndrome
Health Risk
RS114658110
Conflicting classifications of pathogenicity
Alport syndrome, Alport syndrome
Health Risk
RS1169752185
Conflicting classifications of pathogenicity
Autosomal dominant Alport syndrome, Hematuria, benign familial
Health Risk
RS1178734829
Conflicting classifications of pathogenicity
Alport syndrome 3b, autosomal recessive, Autosomal dominant Alport syndrome
Health Risk
RS1186120881
Conflicting classifications of pathogenicity
Hematuria, benign familial, 2
Health Risk
RS1189095338
Conflicting classifications of pathogenicity
Alport syndrome, Alport syndrome
Health Risk
RS1204230457
Conflicting classifications of pathogenicity
Alport syndrome 3b, autosomal recessive, Autosomal dominant Alport syndrome
Health Risk
RS121912827
Conflicting classifications of pathogenicity
Benign familial hematuria, Autosomal recessive Alport syndrome, Alport syndrome
Health Risk
All Variants (737)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2469677416 | Health Risk | Pathogenic | Alport syndrome 3b, autosomal recessive, Alport syndrome 3b |
| RS2469701095 | Health Risk | Pathogenic | — |
| RS2469732143 | Health Risk | Pathogenic | — |
| RS2469770662 | Health Risk | Pathogenic | — |
| RS2469780330 | Health Risk | Pathogenic | — |
| RS2469783874 | Health Risk | Pathogenic | — |
| RS2469815729 | Health Risk | Pathogenic | — |
| RS2469828350 | Health Risk | Pathogenic | — |
| RS2469829167 | Health Risk | Pathogenic | — |
| RS2469829443 | Health Risk | Pathogenic | — |
| RS2469850303 | Health Risk | Pathogenic | Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469879795 | Health Risk | Pathogenic | — |
| RS2469885681 | Health Risk | Pathogenic | — |
| RS2469885706 | Health Risk | Pathogenic | — |
| RS2469886224 | Health Risk | Pathogenic | — |
| RS2469910738 | Health Risk | Pathogenic | — |
| RS2469936841 | Health Risk | Pathogenic | — |
| RS2469936865 | Health Risk | Pathogenic | — |
| RS2469937564 | Health Risk | Pathogenic | — |
| RS2469938889 | Health Risk | Pathogenic | — |
| RS2469939374 | Health Risk | Pathogenic | — |
| RS2469946548 | Health Risk | Pathogenic | — |
| RS2469946754 | Health Risk | Pathogenic | — |
| RS2469950127 | Health Risk | Pathogenic | Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS2478217713 | Health Risk | Pathogenic | — |
| RS267606745 | Health Risk | Pathogenic | Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Alport syndrome |
| RS368434069 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, COL4A3-related disorder, Autosomal dominant Alport syndrome |
| RS371334239 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Alport syndrome, COL4A3-related disorder |
| RS373324875 | Health Risk | Pathogenic | Glomerulopathy, Hematuria, Inborn genetic diseases |
| RS375290088 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Alport syndrome 3b, autosomal recessive |
| RS748026887 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Alport syndrome, Benign familial hematuria |
| RS749390823 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome, Alport syndrome |
| RS750308686 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS751021793 | Health Risk | Pathogenic | Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS754085928 | Health Risk | Pathogenic | Autosomal dominant Alport syndrome, COL4A3-related disorder, Autosomal dominant Alport syndrome |
| RS755235783 | Health Risk | Pathogenic | — |
| RS755792441 | Health Risk | Pathogenic | — |
| RS756231749 | Health Risk | Pathogenic | Alport syndrome, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS759873621 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Alport syndrome, Autosomal dominant Alport syndrome |
| RS760561462 | Health Risk | Pathogenic | — |
| RS760846085 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome, Alport syndrome |
| RS766306957 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Alport syndrome, Inborn genetic diseases |
| RS766900945 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS769863513 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Alport syndrome 3b, autosomal recessive |
| RS772708743 | Health Risk | Pathogenic | Autosomal dominant Alport syndrome, Alport syndrome, Benign familial hematuria |
| RS869025326 | Health Risk | Pathogenic | Benign familial hematuria, Benign familial hematuria |
| RS869025327 | Health Risk | Pathogenic | Benign familial hematuria, Benign familial hematuria |
| RS876657397 | Health Risk | Pathogenic | Autosomal recessive Alport syndrome, Alport syndrome, COL4A3-related disorder |
| RS932207890 | Health Risk | Pathogenic | — |
| RS937387158 | Health Risk | Pathogenic | — |