VCAN Chromosome 5
Versican
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What This Gene Does
This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Gene Info
Gene Group
"Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing"
Locus Type
gene with protein product
Location
5q14.2-q14.3
Ensembl
ENSG00000038427
Associated Conditions (14)
Inborn genetic diseases
Vitreoretinopathy
VCAN-related disorder
Wagner disease
Retinal dystrophy
Thyroid cancer
nonmedullary
1
Myopia 25
autosomal dominant
High myopia
early-onset
Stickler syndrome
Melanoma
Key Variants
RS1167469350
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1174927168
Conflicting classifications of pathogenicity
Health Risk
RS1248597388
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138937534
Conflicting classifications of pathogenicity
Vitreoretinopathy, Inborn genetic diseases, Vitreoretinopathy
Health Risk
RS139141519
Conflicting classifications of pathogenicity
Inborn genetic diseases, VCAN-related disorder, Inborn genetic diseases
Health Risk
RS139471788
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139730890
Conflicting classifications of pathogenicity
Wagner disease, Vitreoretinopathy, VCAN-related disorder
Health Risk
RS140063016
Conflicting classifications of pathogenicity
Vitreoretinopathy, Wagner disease, Vitreoretinopathy
Health Risk
RS141007991
Conflicting classifications of pathogenicity
Vitreoretinopathy, Inborn genetic diseases, Vitreoretinopathy
Health Risk
RS141195210
Conflicting classifications of pathogenicity
Vitreoretinopathy, Wagner disease, VCAN-related disorder
Health Risk
RS141680853
Conflicting classifications of pathogenicity
Inborn genetic diseases, VCAN-related disorder, Inborn genetic diseases
Health Risk
RS141725839
Conflicting classifications of pathogenicity
Wagner disease, Vitreoretinopathy, Inborn genetic diseases
Health Risk
All Variants (106)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397515437 | Health Risk | Pathogenic | Wagner disease, Wagner disease |
| RS80356553 | Health Risk | Pathogenic | Wagner disease, Wagner disease, Wagner disease |
| RS80356554 | Health Risk | Pathogenic | Wagner disease, Stickler syndrome, Melanoma |
| RS80356555 | Health Risk | Pathogenic | Wagner disease, Retinal dystrophy, Inborn genetic diseases |
| RS80356556 | Health Risk | Pathogenic | Wagner disease, Wagner disease, Wagner disease |
| RS928940812 | Health Risk | Pathogenic | — |