Details for Gene KCNJ10

GENE NAME KCNJ10
CHROMOSOME 1
ENSEMBL ID ENSG00000177807
ENTREZ ID 3766
UNIPROT ACCESSION NUMBER P78508
GO MOLECULAR FUNCTION ATP binding; nucleotide binding; voltage-gated ion channel activity; inward rectifier potassium channel activity; ATP-activated inward rectifier potassium channel activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1296065; R-HSA-112315; R-HSA-112316; hsa04971; R-HSA-1296071; R-HSA-997272; R-HSA-991365; hsa05016; R-HSA-1296059; R-HSA-1296067; R-HSA-977443; R-HSA-112314; R-HSA-1296041; R-HSA-977444
2 combinations linked to KCNJ10 OLI241; OLI242
2 variants linked to KCNJ10 KCNJ10:c.1042C>T, p.Arg348Cys; KCNJ10:c.581C, p.Pro194His
1 disease linked to KCNJ10 Pendred syndrome

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