COL4A1 Chromosome 13
Collagen type IV alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL4A1.
What This Gene Does
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Network forming collagens
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000187498
Associated Conditions (44)
COL4A1-related disorder
Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Microangiopathy and leukoencephalopathy
pontine
autosomal dominant
Retinal arterial tortuosity
Hemorrhage
intracerebral
susceptibility to
Inborn genetic diseases
Intellectual disability
Congenital anomaly of kidney and urinary tract
Schizencephaly
Uterine carcinosarcoma
Primary membranoproliferative glomerulonephritis
Optic nerve hypoplasia
Chronic kidney disease
Melanoma
HANAC-like syndrome
+24 more conditions
Key Variants
RS1004640402
Conflicting classifications of pathogenicity
COL4A1-related disorder, COL4A1-related disorder
Health Risk
RS1013805396
Conflicting classifications of pathogenicity
Health Risk
RS1057517719
Conflicting classifications of pathogenicity
Health Risk
RS1057519191
Conflicting classifications of pathogenicity
Health Risk
RS1064796811
Conflicting classifications of pathogenicity
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
Health Risk
RS1085307967
Conflicting classifications of pathogenicity
Health Risk
RS113651836
Conflicting classifications of pathogenicity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Health Risk
RS1179536054
Conflicting classifications of pathogenicity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy
Health Risk
RS1348341976
Conflicting classifications of pathogenicity
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
Health Risk
RS138266832
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS138269346
Conflicting classifications of pathogenicity
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Inborn genetic diseases, Brain small vessel disease 1 with or without ocular anomalies
Health Risk
RS138503916
Conflicting classifications of pathogenicity
COL4A1-related disorder, Inborn genetic diseases, COL4A1-related disorder
Health Risk
All Variants (400)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2139162955 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139162968 | Health Risk | Likely pathogenic | — |
| RS2139163073 | Health Risk | Likely pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS2139163150 | Health Risk | Likely pathogenic | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2139164015 | Health Risk | Likely pathogenic | — |
| RS2139164265 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139164302 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139165126 | Health Risk | Likely pathogenic | COL4A1-related disorder, COL4A1-related disorder |
| RS2139165506 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139165584 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139165606 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139169535 | Health Risk | Likely pathogenic | — |
| RS2139169623 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139169706 | Health Risk | Likely pathogenic | — |
| RS2139169795 | Health Risk | Likely pathogenic | — |
| RS2139173181 | Health Risk | Likely pathogenic | — |
| RS2139173980 | Health Risk | Likely pathogenic | — |
| RS2139187274 | Health Risk | Likely pathogenic | Cerebral palsy, Cerebral palsy |
| RS2139187383 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS2139187455 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2139202259 | Health Risk | Likely pathogenic | — |
| RS2139207338 | Health Risk | Likely pathogenic | — |
| RS2501538404 | Health Risk | Likely pathogenic | COL4A1-related disorder, COL4A1-related disorder |
| RS2501540839 | Health Risk | Likely pathogenic | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501565019 | Health Risk | Likely pathogenic | — |
| RS2501568764 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501569133 | Health Risk | Likely pathogenic | — |
| RS2501580028 | Health Risk | Likely pathogenic | Melanoma, Melanoma |
| RS2501584917 | Health Risk | Likely pathogenic | — |
| RS2501584950 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501600650 | Health Risk | Likely pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2501607993 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501608003 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501608143 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501683128 | Health Risk | Likely pathogenic | — |
| RS2501738034 | Health Risk | Likely pathogenic | — |
| RS2501741449 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501741661 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501749644 | Health Risk | Likely pathogenic | — |
| RS2501749906 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501752012 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501752117 | Health Risk | Likely pathogenic | — |
| RS2501757578 | Health Risk | Likely pathogenic | COL4A1-related disorder, COL4A1-related disorder |
| RS2501757618 | Health Risk | Likely pathogenic | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501757760 | Health Risk | Likely pathogenic | — |
| RS2501757966 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2501768622 | Health Risk | Likely pathogenic | — |
| RS2501770185 | Health Risk | Likely pathogenic | Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501770318 | Health Risk | Likely pathogenic | — |
| RS2501770861 | Health Risk | Likely pathogenic | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |