KCNJ2 Chromosome 17

Potassium inwardly rectifying channel subfamily J member 2
107 variants 107 Health Risk

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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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
17q24.3
Ensembl
ENSG00000123700
Associated Conditions (19)
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype
Atrial fibrillation
familial
9
Long QT syndrome
Congenital long QT syndrome
Short QT syndrome type 1
1
Ventricular fibrillation
KCNJ2-related disorder
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Short QT syndrome
Ventricular tachycardia
Supraventricular tachycardia
Cardiac arrhythmia
Familial periodic paralysis
Key Variants
RS1042485
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
Health Risk
RS1166497262
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
Health Risk
RS137870461
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Atrial fibrillation, familial
Health Risk
RS1391769255
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 9
Health Risk
RS140053197
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
Health Risk
RS141035459
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation
Health Risk
RS141069645
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Atrial fibrillation, familial
Health Risk
RS144022753
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Andersen Tawil syndrome
Health Risk
RS146282466
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 9
Health Risk
RS1476737505
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
Health Risk
RS147750704
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 9
Health Risk
RS149224363
Conflicting classifications of pathogenicity
Andersen Tawil syndrome, Atrial fibrillation, familial
Health Risk
All Variants (107)
RSID Category Clinical Significance Conditions
RS1042485 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS1166497262 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS137870461 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation, familial
RS1391769255 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS140053197 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS141035459 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation
RS141069645 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation, familial
RS144022753 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Andersen Tawil syndrome
RS146282466 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS1476737505 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS147750704 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS149224363 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation, familial
RS150326473 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS150985434 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation, familial
RS1555603955 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Andersen Tawil syndrome
RS183514608 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation, familial
RS186842823 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS188533495 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation
RS188588568 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation
RS199473369 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Andersen Tawil syndrome, Short QT syndrome type 3
RS199473377 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Andersen Tawil syndrome, Short QT syndrome type 3
RS199473380 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Andersen Tawil syndrome
RS199473381 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Short QT syndrome type 3, Andersen Tawil syndrome
RS199473655 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Andersen Tawil syndrome, Short QT syndrome type 3
RS201909993 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Andersen Tawil syndrome, Short QT syndrome type 3
RS202067116 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Andersen Tawil syndrome, Short QT syndrome type 3
RS2144377429 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Andersen Tawil syndrome
RS2509921216 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Cardiovascular phenotype, Andersen Tawil syndrome
RS370111593 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome, Cardiovascular phenotype
RS370696463 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS373799322 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS375330016 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS375605948 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome, Cardiovascular phenotype
RS375646186 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Cardiovascular phenotype
RS376921497 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation
RS544342049 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS544384907 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation, familial
RS552577704 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS555386610 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation, familial
RS55970278 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation, familial
RS56194813 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS566129544 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation
RS566186294 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation, familial
RS575383136 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS72552029 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome, Atrial fibrillation
RS748445140 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
RS750011371 Health Risk Conflicting classifications of pathogenicity KCNJ2-related disorder, Andersen Tawil syndrome, Short QT syndrome type 3
RS753757610 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Congenital long QT syndrome
RS758092571 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3, Atrial fibrillation
RS765064661 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 9
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