KCNJ6
entrez
3763
canonical
uniprot
P48051
canonical
ensembl
ENSG00000157542
resolver
ensp
ENSP00000477437
resolver
ensp
ENSP00000493772
resolver
ensp
ENSP00000587482
resolver
enst
ENST00000609713
resolver
enst
ENST00000645093
resolver
enst
ENST00000917423
resolver
genesymbol
KCNJ6
resolver
genesymbol_syn
GIRK2
resolver
genesymbol_syn
KATP2
resolver
genesymbol_syn
KCNJ7
resolver
hgnc
HGNC:6267
resolver
uniprot
Q3MJ74
resolver
uniprot
Q53WW6
resolver
uniprot_entry
KCNJ6_HUMAN
resolver
uniprot_sec
Q3MJ74
resolver
uniprot_sec
Q53WW6
resolver
activity_regulation
ACTIVITY REGULATION: Activated by phosphatidylinositol 4,5 biphosphate (PtdIns(4,5)P2). {ECO:0000250|UniProtKB:P48550}.
uniprot
proteins
amino_acid_sequence
MAKLTESMTNVLEGDSMDQDVESPVAIHQPKLPKQARDDLPRHISRDRTKRKIQRYVRKDGKCNVHHGNVRETYRYLTDIFTTLVDLKWRFNLLIFVMVYTVTWLFFGMIWWLIAYIRGDMDHIEDPSWTPCVTNLNGFVSAFLFSIETETTIGYGYRVITDKCPEGIILLLIQSVLGSIVNAFMVGCMFVKISQPKKRAETLVFSTHAVISMRDGKLCLMFRVGDLRNSHIVEASIRAKLIKSKQTSEGEFIPLNQTDINVGYYTGDDRLFLVSPLIISHEINQQSPFWEISKAQLPKEELEIVVILEGMVEATGMTCQARSSYITSEILWGYRFTPVLTLEDGFYEVDYNSFHETYETSTPSLSAKELAELASRAELPLSWSVSSKLNQHAELETEEEEKNLEEQTERNGDVANLENESKV
uniprot
proteins
disease_involvement
DISEASE: Keppen-Lubinsky syndrome (KPLBS) [MIM:614098]: A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance. {ECO:0000269|PubMed:25620207}. 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. 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. This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G protein-coupled receptors. {ECO:0000269|PubMed:10659995, ECO:0000269|PubMed:7592809}.
uniprot
proteins
mass_dalton
48451
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ6 subfamily
uniprot
proteins
pubmed
10659995
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25620207
uniprot
proteins
pubmed
7592809
uniprot
proteins
pubmed
7729621
uniprot
proteins
pubmed
7796919
uniprot
proteins
pubmed
9245502
uniprot
proteins
sequence_length
423
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 90..114; /note="Helical; Name=M1"; /evidence="ECO:0000250"; TRANSMEM 167..188; /note="Helical; Name=M2"; /evidence="ECO:0000250
uniprot
proteins