GJA8 Chromosome 1
Gap junction protein alpha 8
Upload your DNA to see your personal genotypes for variants in GJA8.
What This Gene Does
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000121634
Associated Conditions (9)
Cataract 1 multiple types
GJA8-related disorder
Inborn genetic diseases
Anterior segment dysgenesis
Developmental cataract
acorea
microphthalmia and cataract syndrome
Microphthalmia
acorea-microphthalmia-cataract syndrome
Key Variants
RS150441169
Conflicting classifications of pathogenicity
Cataract 1 multiple types, GJA8-related disorder, Cataract 1 multiple types
Health Risk
RS1553242554
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cataract 1 multiple types, Inborn genetic diseases
Health Risk
RS1553242577
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS1651887395
Conflicting classifications of pathogenicity
Anterior segment dysgenesis, Cataract 1 multiple types, Anterior segment dysgenesis
Health Risk
RS1651887603
Conflicting classifications of pathogenicity
Anterior segment dysgenesis, Cataract 1 multiple types, Anterior segment dysgenesis
Health Risk
RS1651918704
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS1651922680
Conflicting classifications of pathogenicity
GJA8-related disorder, GJA8-related disorder
Health Risk
RS1651940183
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS2149015482
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS2149015924
Conflicting classifications of pathogenicity
Developmental cataract, Cataract 1 multiple types, Developmental cataract
Health Risk
RS2524888276
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS2524889089
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150441169 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, GJA8-related disorder, Cataract 1 multiple types |
| RS1553242554 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cataract 1 multiple types, Inborn genetic diseases |
| RS1553242577 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS1651887395 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis, Cataract 1 multiple types, Anterior segment dysgenesis |
| RS1651887603 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis, Cataract 1 multiple types, Anterior segment dysgenesis |
| RS1651918704 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS1651922680 | Health Risk | Conflicting classifications of pathogenicity | GJA8-related disorder, GJA8-related disorder |
| RS1651940183 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2149015482 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2149015924 | Health Risk | Conflicting classifications of pathogenicity | Developmental cataract, Cataract 1 multiple types, Developmental cataract |
| RS2524888276 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889089 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889140 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, acorea, microphthalmia and cataract syndrome |
| RS2524889961 | Health Risk | Conflicting classifications of pathogenicity | GJA8-related disorder, Cataract 1 multiple types, GJA8-related disorder |
| RS2524889972 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524891845 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524891883 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS781881392 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, GJA8-related disorder, Inborn genetic diseases |
| RS781949456 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS782054970 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cataract 1 multiple types, Inborn genetic diseases |
| RS782505421 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Inborn genetic diseases, Cataract 1 multiple types |
| RS80358200 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types, Cataract 1 multiple types |
| RS80358201 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS80358204 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS80358205 | Health Risk | Conflicting classifications of pathogenicity | Cataract 1 multiple types, Cataract 1 multiple types |
| RS1571175899 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2149015335 | Health Risk | Likely pathogenic | Developmental cataract, Cataract 1 multiple types, Cataract 1 multiple types |
| RS2149015516 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524888659 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524888804 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524888892 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889317 | Health Risk | Likely pathogenic | Microphthalmia, Cataract 1 multiple types, Microphthalmia |
| RS2524889327 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889489 | Health Risk | Likely pathogenic | — |
| RS2524889508 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889513 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524891019 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524891890 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524892983 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS782199122 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types, Cataract 1 multiple types |
| RS782285117 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS80358203 | Health Risk | Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS864309684 | Health Risk | Likely pathogenic | Developmental cataract, Cataract 1 multiple types, Developmental cataract |
| RS864309703 | Health Risk | Likely pathogenic | Developmental cataract, Cataract 1 multiple types, acorea-microphthalmia-cataract syndrome |
| RS1307969607 | Health Risk | Pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS1571175950 | Health Risk | Pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS1651879427 | Health Risk | Pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS1651881222 | Health Risk | Pathogenic | Cataract 1 multiple types, Cataract 1 multiple types, Cataract 1 multiple types |
| RS1651919374 | Health Risk | Pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2149015418 | Health Risk | Pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |