DCN Chromosome 12
Decorin
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What This Gene Does
This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Small leucine rich repeat proteoglycans
Locus Type
gene with protein product
Location
12q21.33
Ensembl
ENSG00000011465
Associated Conditions (2)
Congenital stromal corneal dystrophy
Inborn genetic diseases
Key Variants
RS144174426
Conflicting classifications of pathogenicity
Congenital stromal corneal dystrophy, Inborn genetic diseases, Congenital stromal corneal dystrophy
Health Risk
RS373676217
Conflicting classifications of pathogenicity
Congenital stromal corneal dystrophy, Inborn genetic diseases, Congenital stromal corneal dystrophy
Health Risk
RS775666283
Conflicting classifications of pathogenicity
Congenital stromal corneal dystrophy, Inborn genetic diseases, Congenital stromal corneal dystrophy
Health Risk
RS397515545
Pathogenic
Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy
Health Risk
RS587777258
Pathogenic
Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy
Health Risk
RS80338741
Pathogenic
Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy
Health Risk
RS80338742
Pathogenic
Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144174426 | Health Risk | Conflicting classifications of pathogenicity | Congenital stromal corneal dystrophy, Inborn genetic diseases, Congenital stromal corneal dystrophy |
| RS373676217 | Health Risk | Conflicting classifications of pathogenicity | Congenital stromal corneal dystrophy, Inborn genetic diseases, Congenital stromal corneal dystrophy |
| RS775666283 | Health Risk | Conflicting classifications of pathogenicity | Congenital stromal corneal dystrophy, Inborn genetic diseases, Congenital stromal corneal dystrophy |
| RS397515545 | Health Risk | Pathogenic | Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy |
| RS587777258 | Health Risk | Pathogenic | Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy |
| RS80338741 | Health Risk | Pathogenic | Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy |
| RS80338742 | Health Risk | Pathogenic | Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy |