GJA5 Chromosome 1
Gap junction protein alpha 5
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What This Gene Does
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000265107
Associated Conditions (7)
Atrial fibrillation
familial
11
Atrial standstill 1
Chromosome 1q21.1 deletion syndrome
Inborn genetic diseases
somatic
Key Variants
RS116551187
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 11
Health Risk
RS1245381241
Conflicting classifications of pathogenicity
Atrial standstill 1, Atrial fibrillation, familial
Health Risk
RS1364547914
Conflicting classifications of pathogenicity
Atrial standstill 1, Atrial fibrillation, familial
Health Risk
RS144069395
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 11
Health Risk
RS150168016
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 11
Health Risk
RS36214923
Conflicting classifications of pathogenicity
Health Risk
RS782580208
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 11
Health Risk
RS782592443
Conflicting classifications of pathogenicity
Atrial standstill 1, Atrial fibrillation, familial
Health Risk
RS886045251
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 11
Health Risk
RS121434558
Pathogenic
Atrial fibrillation, somatic, Atrial fibrillation
Health Risk
RS2524612750
Pathogenic
Atrial standstill 1, Atrial fibrillation, familial
Health Risk
RS387906612
Pathogenic
Atrial fibrillation, familial, 11
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116551187 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 11 |
| RS1245381241 | Health Risk | Conflicting classifications of pathogenicity | Atrial standstill 1, Atrial fibrillation, familial |
| RS1364547914 | Health Risk | Conflicting classifications of pathogenicity | Atrial standstill 1, Atrial fibrillation, familial |
| RS144069395 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 11 |
| RS150168016 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 11 |
| RS36214923 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782580208 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 11 |
| RS782592443 | Health Risk | Conflicting classifications of pathogenicity | Atrial standstill 1, Atrial fibrillation, familial |
| RS886045251 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 11 |
| RS121434558 | Health Risk | Pathogenic | Atrial fibrillation, somatic, Atrial fibrillation |
| RS2524612750 | Health Risk | Pathogenic | Atrial standstill 1, Atrial fibrillation, familial |
| RS387906612 | Health Risk | Pathogenic | Atrial fibrillation, familial, 11 |
| RS387906613 | Health Risk | Pathogenic | Atrial fibrillation, familial, 11 |
| RS387906614 | Health Risk | Pathogenic | Atrial fibrillation, familial, 11 |
| RS387906615 | Health Risk | Pathogenic | Atrial fibrillation, familial, 11 |