COL4A4 Chromosome 2
Collagen type IV alpha 4 chain
Upload your DNA to see your personal genotypes for variants in COL4A4.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Network forming collagens
Locus Type
gene with protein product
Location
2q36.3
Ensembl
ENSG00000081052
Associated Conditions (36)
Autosomal recessive Alport syndrome
Hematuria
benign familial
1
COL4A4-related disorder
Alport syndrome
Kidney disorder
Inborn genetic diseases
Meniere disease
Autosomal dominant Alport syndrome
Atypical hemolytic-uremic syndrome
Microscopic hematuria
Benign familial hematuria
Gastric cancer
Ovarian serous cystadenocarcinoma
Lung cancer
Focal segmental glomerulosclerosis
Thrombocytopenia
Hyperkalemia
Stage 5 chronic kidney disease
+16 more conditions
Key Variants
RS1019388756
Conflicting classifications of pathogenicity
Autosomal recessive Alport syndrome, Hematuria, benign familial
Health Risk
RS1026613471
Conflicting classifications of pathogenicity
Autosomal recessive Alport syndrome, COL4A4-related disorder, Alport syndrome
Health Risk
RS1156323870
Conflicting classifications of pathogenicity
Alport syndrome, Autosomal recessive Alport syndrome, Hematuria
Health Risk
RS1158350974
Conflicting classifications of pathogenicity
COL4A4-related disorder, Autosomal recessive Alport syndrome, Hematuria
Health Risk
RS1162654150
Conflicting classifications of pathogenicity
Hematuria, benign familial, 1
Health Risk
RS117468095
Conflicting classifications of pathogenicity
Alport syndrome, Alport syndrome
Health Risk
RS1216718864
Conflicting classifications of pathogenicity
Alport syndrome, Alport syndrome
Health Risk
RS121912863
Conflicting classifications of pathogenicity
Autosomal recessive Alport syndrome, Alport syndrome, Kidney disorder
Health Risk
RS1260916310
Conflicting classifications of pathogenicity
Alport syndrome, Meniere disease, Autosomal recessive Alport syndrome
Health Risk
RS1271416659
Conflicting classifications of pathogenicity
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Hematuria
Health Risk
RS1287040507
Conflicting classifications of pathogenicity
Hematuria, benign familial, 1
Health Risk
RS13027659
Conflicting classifications of pathogenicity
Alport syndrome, Atypical hemolytic-uremic syndrome, COL4A4-related disorder
Health Risk
All Variants (776)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2474224530 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474224740 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474225085 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474252483 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474719709 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474719777 | Health Risk | Likely pathogenic | Benign familial hematuria, Benign familial hematuria |
| RS2474721255 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2474721637 | Health Risk | Likely pathogenic | — |
| RS2474786672 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475022046 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475082705 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475085768 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475254533 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475417678 | Health Risk | Likely pathogenic | Alport syndrome, Alport syndrome |
| RS2475419713 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475458276 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475531254 | Health Risk | Likely pathogenic | Hematuria, benign familial, 1 |
| RS2475532203 | Health Risk | Likely pathogenic | — |
| RS2475548694 | Health Risk | Likely pathogenic | — |
| RS2475551311 | Health Risk | Likely pathogenic | Benign familial hematuria, Autosomal recessive Alport syndrome, Benign familial hematuria |
| RS2475639659 | Health Risk | Likely pathogenic | — |
| RS2475772649 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475774780 | Health Risk | Likely pathogenic | Benign familial hematuria, Benign familial hematuria |
| RS2475785741 | Health Risk | Likely pathogenic | — |
| RS2475811047 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2475814978 | Health Risk | Likely pathogenic | — |
| RS2475996480 | Health Risk | Likely pathogenic | — |
| RS2476136983 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2476138261 | Health Risk | Likely pathogenic | COL4A4-related disorder, COL4A4-related disorder |
| RS2476140169 | Health Risk | Likely pathogenic | — |
| RS2476235922 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Hematuria, benign familial |
| RS2476242345 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2476245865 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2476899667 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2477162674 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2477329625 | Health Risk | Likely pathogenic | Benign familial hematuria, Hematuria, benign familial |
| RS267599231 | Health Risk | Likely pathogenic | Alport syndrome, Alport syndrome |
| RS34509421 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS373150214 | Health Risk | Likely pathogenic | Alport syndrome, Autosomal recessive Alport syndrome, Hematuria |
| RS374815903 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Benign familial hematuria, Alport syndrome |
| RS375450996 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, COL4A4-related disorder, Benign familial hematuria |
| RS377058706 | Health Risk | Likely pathogenic | Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS377511303 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Alport syndrome, Inborn genetic diseases |
| RS569681869 | Health Risk | Likely pathogenic | Myopia, Hypertensive disorder, Hematuria |
| RS745672795 | Health Risk | Likely pathogenic | Hematuria, benign familial, 1 |
| RS746105339 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS747167770 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, COL4A4-related disorder, Hematuria |
| RS754669149 | Health Risk | Likely pathogenic | Autosomal recessive Alport syndrome, Hematuria, benign familial |
| RS755233004 | Health Risk | Likely pathogenic | Benign familial hematuria, Benign familial hematuria |
| RS755478262 | Health Risk | Likely pathogenic | Benign familial hematuria, Autosomal recessive Alport syndrome, Benign familial hematuria |