KCNJ8 Chromosome 12
Potassium inwardly rectifying channel subfamily J member 8
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What This Gene Does
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000121361
Associated Conditions (6)
Brugada syndrome
Syndromic disease
Cardiovascular phenotype
Long QT syndrome
KCNJ8-related disorder
Hypertrichotic osteochondrodysplasia Cantu type
Key Variants
RS117808169
Conflicting classifications of pathogenicity
Brugada syndrome, Syndromic disease, Cardiovascular phenotype
Health Risk
RS138391404
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Hypertrichotic osteochondrodysplasia Cantu type
Health Risk
RS143319002
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS147316959
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS1565662161
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS761526890
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS1366543712
Likely pathogenic
Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
Health Risk
RS2540728555
Likely pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117808169 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Syndromic disease, Cardiovascular phenotype |
| RS138391404 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Hypertrichotic osteochondrodysplasia Cantu type |
| RS143319002 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS147316959 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS1565662161 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS761526890 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS1366543712 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS2540728555 | Health Risk | Likely pathogenic | — |