KERA Chromosome 12
Keratocan
Upload your DNA to see your personal genotypes for variants in KERA.
What This Gene Does
The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]
Gene Info
Gene Group
Small leucine rich repeat proteoglycans
Locus Type
gene with protein product
Location
12q21.33
Ensembl
ENSG00000139330
Associated Conditions (2)
Cornea plana 2
KERA-related disorder
Key Variants
RS139692564
Conflicting classifications of pathogenicity
Health Risk
RS386833984
Conflicting classifications of pathogenicity
Cornea plana 2, Cornea plana 2
Health Risk
RS386833985
Likely pathogenic
Cornea plana 2, Cornea plana 2
Health Risk
RS121917858
Pathogenic
Cornea plana 2, Cornea plana 2
Health Risk
RS121917860
Pathogenic
Cornea plana 2, Cornea plana 2
Health Risk
RS121917862
Pathogenic
Cornea plana 2, Cornea plana 2
Health Risk
RS121917863
Pathogenic
Cornea plana 2, Cornea plana 2
Health Risk
RS386833986
Pathogenic
Cornea plana 2, Cornea plana 2
Health Risk
RS757391405
Pathogenic
Health Risk
RS757611751
Pathogenic
Cornea plana 2, Cornea plana 2
Health Risk
RS758552587
Pathogenic
KERA-related disorder, KERA-related disorder
Health Risk
RS2499553350
Pathogenic/Likely pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139692564 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS386833984 | Health Risk | Conflicting classifications of pathogenicity | Cornea plana 2, Cornea plana 2 |
| RS386833985 | Health Risk | Likely pathogenic | Cornea plana 2, Cornea plana 2 |
| RS121917858 | Health Risk | Pathogenic | Cornea plana 2, Cornea plana 2 |
| RS121917860 | Health Risk | Pathogenic | Cornea plana 2, Cornea plana 2 |
| RS121917862 | Health Risk | Pathogenic | Cornea plana 2, Cornea plana 2 |
| RS121917863 | Health Risk | Pathogenic | Cornea plana 2, Cornea plana 2 |
| RS386833986 | Health Risk | Pathogenic | Cornea plana 2, Cornea plana 2 |
| RS757391405 | Health Risk | Pathogenic | — |
| RS757611751 | Health Risk | Pathogenic | Cornea plana 2, Cornea plana 2 |
| RS758552587 | Health Risk | Pathogenic | KERA-related disorder, KERA-related disorder |
| RS2499553350 | Health Risk | Pathogenic/Likely pathogenic | — |