Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3759
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium inwardly rectifying channel subfamily J member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNJ2
Synonyms (NCBI Gene) Gene synonyms aliases
ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ATFB9, LQT7, SQT3
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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, whi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894575 A>T Pathogenic, not-provided Missense variant, coding sequence variant
rs104894578 C>T Pathogenic, not-provided Missense variant, coding sequence variant
rs104894579 G>A,C,T Pathogenic, not-provided Missense variant, coding sequence variant
rs104894580 C>A,T Pathogenic, not-provided Synonymous variant, missense variant, coding sequence variant
rs104894581 C>A,T Pathogenic, not-provided, uncertain-significance Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001983 hsa-miR-1-3p Luciferase reporter assay 17401374
MIRT001983 hsa-miR-1-3p Luciferase reporter assay 17401374
MIRT001983 hsa-miR-1-3p Luciferase reporter assay 17401374
MIRT001983 hsa-miR-1-3p Luciferase reporter assay 17401374
MIRT001983 hsa-miR-1-3p Luciferase reporter assay 17401374
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IBA 21873635
GO:0005242 Function Inward rectifier potassium channel activity IDA 11371347, 12086641, 20921230
GO:0005515 Function Protein binding IPI 32296183
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 12086641
GO:0005790 Component Smooth endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600681 6263 ENSG00000123700
Protein
UniProt ID P63252
Protein name Inward rectifier potassium channel 2 (Cardiac inward rectifier potassium channel) (Inward rectifier K(+) channel Kir2.1) (IRK-1) (hIRK1) (Potassium channel, inwardly rectifying subfamily J member 2)
Protein function Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:36149965, PubMed:7590287, PubMed:9490857). Their voltage dependence is regulated by the concentrat
PDB 6SPZ , 7ZDZ , 8QQL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08466 IRK_N 1 47 Inward rectifier potassium channel N-terminal Family
PF01007 IRK 48 186 Inward rectifier potassium channel transmembrane domain Domain
PF17655 IRK_C 193 366 Inward rectifier potassium channel C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.
Sequence
Sequence length 427
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cholinergic synapse
Oxytocin signaling pathway
Renin secretion
Gastric acid secretion
  Activation of G protein gated Potassium channels
Classical Kir channels
Phase 4 - resting membrane potential
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Andersen tawil syndrome Andersen-Tawil syndrome rs104894575, rs104894578, rs104894579, rs2144376746, rs104894580, rs104894581, rs104894582, rs104894583, rs104894585, rs199473650, rs199473387, rs387906778, rs199473368, rs199473371, rs199473373
View all (9 more)
Atrial fibrillation Atrial Fibrillation, ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder), ATRIAL FIBRILLATION, FAMILIAL, 9, Familial atrial fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
25691870, 15922306, 12163457, 27761157
Atrioventricular block Atrioventricular Block rs766840243, rs763809932
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation ClinVar
Short QT Syndrome short QT syndrome type 3, short QT syndrome GenCC
Atrial Fibrillation familial atrial fibrillation GenCC
Associations from Text Mining
Disease Name Relationship Type References
Andersen Syndrome Associate 12148092, 14522976, 17119796, 17341397, 21148745, 21703452, 22166941, 23516313, 24047492, 24861851, 26109178, 28315637, 28336205, 29017447, 30516532
View all (11 more)
Arrhythmias Cardiac Associate 12148092, 17341397, 24047492, 24561538, 24861851, 35762211, 39969299
Ataxia Telangiectasia Associate 22342860
Atrial Fibrillation Associate 20657029, 23440193, 24460807, 28609477, 28711067, 34332113
Atrial Fibrillation Stimulate 31270966
Atrial Remodeling Associate 28609477
Bicuspid Aortic Valve Disease Associate 12148092
Body Dysmorphic Disorders Associate 17119796
Brachydactyly type A3 Associate 12148092, 17119796
Brugada Syndrome Associate 26230511