KCNJ8
entrez
3764
canonical
uniprot
Q15842
canonical
ensembl
ENSG00000121361
resolver
ensp
ENSP00000240662
resolver
ensp
ENSP00000499300
resolver
ensp
ENSP00000499462
resolver
ensp
ENSP00000529871
resolver
ensp
ENSP00000529872
resolver
ensp
ENSP00000529873
resolver
ensp
ENSP00000529875
resolver
ensp
ENSP00000529876
resolver
ensp
ENSP00000529877
resolver
ensp
ENSP00000621791
resolver
ensp
ENSP00000621792
resolver
enst
ENST00000240662
resolver
enst
ENST00000665145
resolver
enst
ENST00000667884
resolver
enst
ENST00000859812
resolver
enst
ENST00000859813
resolver
enst
ENST00000859814
resolver
enst
ENST00000859816
resolver
enst
ENST00000859817
resolver
enst
ENST00000859818
resolver
enst
ENST00000951732
resolver
enst
ENST00000951733
resolver
genesymbol
KCNJ8
resolver
hgnc
HGNC:6269
resolver
uniprot
O00657
resolver
uniprot_entry
KCNJ8_HUMAN
resolver
uniprot_sec
O00657
resolver
amino_acid_sequence
MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDIFTTLVDLKWRHTLVIFTMSFLCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESTVCVTNVRSFTSAFLFSIEVQVTIGFGGRMMTEECPLAITVLILQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRHAVIAVRNGKLCFMFRVGDLRKSMIISASVRIQVVKKTTTPEGEVVPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDISATDLANQDLEVIVILEGVVETTGITTQARTSYIAEEIQWGHRFVSIVTEEEGVYSVDYSKFGNTVKVAAPRCSARELDEKPSILIQTLQKSELSHQNSLRKRNSMRRNNSMRRNNSIRRNNSSLMVPKVQFMTPEGNQNTSES
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia. {ECO:0000269|PubMed:20558321}.; DISEASE: Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO:0000269|PubMed:21836131}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO:0000269|PubMed:24176758, ECO:0000269|PubMed:24700710, ECO:0000269|PubMed:28842488}. Note=The disease may be caused by variants affecting distinct genetic loci, including 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:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). 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:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with ABCC9 (By similarity). {ECO:0000250|UniProtKB:P97794, ECO:0000269|PubMed:20558321, ECO:0000269|PubMed:21836131, ECO:0000269|PubMed:24700710, ECO:0000269|PubMed:28842488}.
uniprot
proteins
mass_dalton
47968
uniprot
proteins
mutagenesis
MUTAGEN 65; /note="V->L: No effect on channel activity."; /evidence="ECO:0000269|PubMed:28842488
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ8 subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20153265
uniprot
proteins
pubmed
20558321
uniprot
proteins
pubmed
21836131
uniprot
proteins
pubmed
24176758
uniprot
proteins
pubmed
24700710
uniprot
proteins
pubmed
28842488
uniprot
proteins
pubmed
8595887
uniprot
proteins
pubmed
9573340
uniprot
proteins
sequence_length
424
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 70..94; /note="Helical; Name=M1"; /evidence="ECO:0000250"; TRANSMEM 155..176; /note="Helical; Name=M2"; /evidence="ECO:0000250
uniprot
proteins