Entity Details

Primary name KCNJ2
Entity type gene
Source Source Link

Details

PrimaryID3759
RefseqGeneNG_008798
SymbolKCNJ2
Namepotassium inwardly rectifying channel subfamily J member 2
Chromosome17
Location17q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-13
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsKCNJ2_HUMAN

GO terms

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GOName
GO:0005242 inward rectifier potassium channel activity
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005790 smooth endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006813 potassium ion transport
GO:0008076 voltage-gated potassium channel complex
GO:0014704 intercalated disc
GO:0014861 regulation of skeletal muscle contraction via regulation of action potential
GO:0015693 magnesium ion transport
GO:0030007 cellular potassium ion homeostasis
GO:0030315 T-tubule
GO:0031224 intrinsic component of membrane
GO:0034765 regulation of ion transmembrane transport
GO:0042802 identical protein binding
GO:0043025 neuronal cell body
GO:0043197 dendritic spine
GO:0051289 protein homotetramerization
GO:0055119 relaxation of cardiac muscle
GO:0060075 regulation of resting membrane potential
GO:0060306 regulation of membrane repolarization
GO:0061337 cardiac conduction
GO:0071260 cellular response to mechanical stimulus
GO:0071805 potassium ion transmembrane transport
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086004 regulation of cardiac muscle cell contraction
GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
GO:0086011 membrane repolarization during action potential
GO:0086012 membrane depolarization during cardiac muscle cell action potential
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:0090076 relaxation of skeletal muscle
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1990573 potassium ion import across plasma membrane

Diseases

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Disease IDSourceNameDescription
170390 OMIMLong QT syndrome 7 (LQT7)A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.
613980 OMIMAtrial fibrillation, familial, 9 (ATFB9)A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. The disease is caused by variants affecting the gene represented in this entry.
609622 OMIMShort QT syndrome 3 (SQT3)A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves. The disease is caused by variants affecting the gene represented in this entry.