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 |