KCNJ2
entrez
3759
canonical
uniprot
P63252
canonical
ensembl
ENSG00000123700
resolver
ensp
ENSP00000243457
resolver
ensp
ENSP00000441848
resolver
ensp
ENSP00000524950
resolver
ensp
ENSP00000524951
resolver
enst
ENST00000243457
resolver
enst
ENST00000535240
resolver
enst
ENST00000854891
resolver
enst
ENST00000854892
resolver
genesymbol
KCNJ2
resolver
genesymbol_syn
IRK1
resolver
hgnc
HGNC:6263
resolver
uniprot
O15110
resolver
uniprot
P48049
resolver
uniprot_entry
KCNJ2_HUMAN
resolver
uniprot_sec
O15110
resolver
uniprot_sec
P48049
resolver
activity_regulation
ACTIVITY REGULATION: Channel opening is promoted by binding phosphatidylinositol-4,5-bisphosphate (PIP2). {ECO:0000269|PubMed:36149965}.
uniprot
proteins
amino_acid_sequence
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFMVVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEGEYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTSTDTPPDIDLHNQASVPLEPRPLRRESEI
uniprot
proteins
disease_involvement
DISEASE: Long 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 variants affecting the gene represented in this entry.; DISEASE: Short QT syndrome 3 (SQT3) [MIM:609622]: A form of short QT syndrome, 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 can cause 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 variants affecting the gene represented in this entry.; DISEASE: Atrial 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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 concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:7590287, PubMed:7696590). The inward rectification is mainly due to the blockage of outward current by internal magnesium (PubMed:9490857). Can be blocked by extracellular barium or cesium (PubMed:7590287, PubMed:7696590). Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues (PubMed:7590287, PubMed:7696590, PubMed:7840300). {ECO:0000269|PubMed:11371347, ECO:0000269|PubMed:15761194, ECO:0000269|PubMed:15922306, ECO:0000269|PubMed:16571646, ECO:0000269|PubMed:17324964, ECO:0000269|PubMed:36149965, ECO:0000269|PubMed:7590287, ECO:0000269|PubMed:7696590, ECO:0000269|PubMed:7840300, ECO:0000269|PubMed:8821791, ECO:0000269|PubMed:9490857, ECO:0000269|PubMed:9533862}.
uniprot
proteins
mass_dalton
48288
uniprot
proteins
mutagenesis
MUTAGEN 312; /note="R->H: Does not significantly alter affinity for PIP2, but mutant channels do not open despite binding PIP2."; /evidence="ECO:0000269|PubMed:36149965
uniprot
proteins
post_translational_modification
PTM: S-nitrosylation increases the open probability and inward rectifying currents. {ECO:0000269|PubMed:19608980}.
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ2 subfamily
uniprot
proteins
pubmed
11240146
uniprot
proteins
pubmed
11371347
uniprot
proteins
pubmed
12032359
uniprot
proteins
pubmed
12148092
uniprot
proteins
pubmed
12163457
uniprot
proteins
pubmed
15761194
uniprot
proteins
pubmed
15922306
uniprot
proteins
pubmed
16571646
uniprot
proteins
pubmed
17324964
uniprot
proteins
pubmed
19608980
uniprot
proteins
pubmed
21209095
uniprot
proteins
pubmed
36149965
uniprot
proteins
pubmed
7590287
uniprot
proteins
pubmed
7696590
uniprot
proteins
pubmed
7840300
uniprot
proteins
pubmed
8821791
uniprot
proteins
pubmed
9490857
uniprot
proteins
pubmed
9533862
uniprot
proteins
sequence_length
427
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16571646, ECO:0000269|PubMed:9533862}; Multi-pass membrane protein {ECO:0000255}. Cell membrane, sarcolemma, T-tubule {ECO:0000250|UniProtKB:Q64273}.
uniprot
proteins
transmembrane_region
TRANSMEM 82..106; /note="Helical; Name=M1"; /evidence="ECO:0000250"; TRANSMEM 157..178; /note="Helical; Name=M2"; /evidence="ECO:0000250
uniprot
proteins