Details for Gene KCNA5

GENE NAME KCNA5
CHROMOSOME 12
ENSEMBL ID ENSG00000130037
ENTREZ ID 3741
UNIPROT ACCESSION NUMBER P22460
GO MOLECULAR FUNCTION protein binding; potassium channel activity; voltage-gated ion channel activity; outward rectifier potassium channel activity; delayed rectifier potassium channel activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-112316; R-HSA-1296071; R-HSA-1296072
1 combination linked to KCNA5 OLI238
1 variant linked to KCNA5 KCNA5:c.1428del, p.Thr477ProfsTer2
2 diseases linked to KCNA5 Pulmonary arterial hypertension; Heritable pulmonary arterial hypertension

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