COL5A2 Chromosome 2
Collagen type V alpha 2 chain
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What This Gene Does
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Fibrillar collagens"
Locus Type
gene with protein product
Location
2q32.2
Ensembl
ENSG00000204262
Associated Conditions (22)
Ehlers-Danlos syndrome
classic type
1
Familial thoracic aortic aneurysm and aortic dissection
2
COL5A2-related disorder
Abnormal bleeding
Thrombocytopenia
Familial aortopathy
Connective tissue disorder
Marfan syndrome
Telecanthus
arthrochalasia type
Disproportionate tall stature
Squamous cell lung carcinoma
Hepatocellular carcinoma
Sarcoma
Keratoconus
Cardiovascular phenotype
Joint hypermobility
+2 more conditions
Key Variants
RS1001063455
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1033836182
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type
Health Risk
RS1040238147
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1042644306
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1056466895
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 2
Health Risk
RS1181992113
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1189039397
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1200990468
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1216356488
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1234716349
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1247714244
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type
Health Risk
RS1257172706
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
All Variants (235)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2105579086 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2105652981 | Health Risk | Likely pathogenic | — |
| RS2105712615 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 2 |
| RS2469239891 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 2 |
| RS2469261124 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2469263634 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 2 |
| RS2469294833 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2469295166 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 2 |
| RS2469306058 | Health Risk | Likely pathogenic | COL5A2-related disorder, COL5A2-related disorder |
| RS2469306279 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2469314500 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 2 |
| RS772811492 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS786205104 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome |
| RS1553512393 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome |
| RS1553513971 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome |
| RS1553514506 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome |
| RS1553515517 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome |
| RS1559085578 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS1576517517 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS1685734160 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS1685782021 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome |
| RS1686383386 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2105632746 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2105686869 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2105686874 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2153506167 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 2 |
| RS2469246822 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2469259225 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2469279533 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2469307907 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS2469321920 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 2 |
| RS754843093 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS786205103 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome |
| RS863223491 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS1553517323 | Health Risk | Pathogenic/Likely pathogenic | Telecanthus, Joint hypermobility, Neuropathic spinal arthropathy |