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Protein-coding gene in the species Homo sapiens

KCNJ6

KCNJ6
All data from the card 18
Aliases
KCNJ6, BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, hiGIRK2, KPLBS, potassium voltage-gated channel subfamily J member 6, potassium inwardly rectifying channel subfamily J member 6
External IDs
OMIM: 600877; MGI: 104781; GeneCards: KCNJ6
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 21 (human)
Band
21q22.13
End
38,121,345 bp
Chr.
Chromosome 16 (mouse)
Band
16 C4|16 55.44 cM
End
94,798,560 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
3763
Ensembl
ENSG00000157542
UniProt
P48051
RefSeq (mRNA)
NM_002240
RefSeq (protein)
NP_002231
Location (UCSC)
Chr 21: 37.61 – 38.12 Mb

G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene. Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS).

Function

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, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex.

Interactions

KCNJ6 has been shown to interact with KCNJ9 and DLG1.

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Text from Wikipedia, CC BY-SA 4.0 · Source article