MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001720

UniProt Annotations

Entry Information
Gene Namepotassium channel, inwardly rectifying subfamily J, member 2
Protein EntryKCNJ2_HUMAN
UniProt IDP63252
SpeciesHuman
Comments
Comment typeDescription
DiseaseAtrial fibrillation, familial, 9 (ATFB9) [MIM:613980]: 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. {ECO:0000269|PubMed:15922306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLong QT syndrome 7 (LQT7) [MIM:170390]: 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. {ECO:0000269|PubMed:11371347, ECO:0000269|PubMed:12148092, ECO:0000269|PubMed:12163457, ECO:0000269|PubMed:16571646, ECO:0000269|PubMed:17324964}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseShort QT syndrome 3 (SQT3) [MIM:609622]: 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. {ECO:0000269|PubMed:15761194}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionProbably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.
PtmS-nitrosylation increases the open probabilty and inward rectifying currents. {ECO:0000269|PubMed:19608980}.
SimilarityBelongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein. Membrane; Lipid-anchor {ECO:0000269|PubMed:25043870}.
SubunitHomomultimeric and heteromultimeric association with KCNJ4/Kir2.3. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). {ECO:0000250}.
Tissue SpecificityHeart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.
  logo