Details for Gene KCNQ3

GENE NAME KCNQ3
CHROMOSOME 8
ENSEMBL ID ENSG00000184156
ENTREZ ID 3786
UNIPROT ACCESSION NUMBER O43525
GO MOLECULAR FUNCTION protein binding; potassium channel activity; voltage-gated potassium channel activity; delayed rectifier potassium channel activity; ion channel activity; calmodulin binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-112316; R-HSA-445095; R-HSA-1296071; R-HSA-1296072; hsa04725; R-HSA-373760; R-HSA-9675108; R-HSA-422475; R-HSA-1266738
1 combination linked to KCNQ3 OLI560
1 variant linked to KCNQ3 KCNQ3:c.1360C>T, p.Pro454Ser
1 disease linked to KCNQ3 Generalized epilepsy with febrile seizures-plus

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