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COL4A3

Synonyms
ATS2, ATS3
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
36
Likely pathogenic
15
VUS
23,268
Likely benign
2,301
Benign
3,373

Patient phenotypes

Proportions of phenotypes among 47 patients carrying pathogenic or likely pathogenic variants on COL4A3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.7%
Abnormality of the eye
27.7%
Abnormality of head or neck
23.4%
Abnormality of the musculoskeletal system
23.4%
Growth abnormality
17%
Abnormality of the cardiovascular system
14.9%
Abnormality of the integument
14.9%
Abnormality of the genitourinary system
12.8%
Abnormality of the ear
8.5%
Abnormality of the immune system
8.5%
Abnormality of limbs
6.4%
Abnormality of the digestive system
6.4%
Abnormality of the endocrine system
6.4%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormal cellular phenotype
2.1%
Abnormality of the respiratory system
2.1%
Constitutional symptom
2.1%
Neoplasm
2.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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