Details for Gene KCNE2

GENE NAME KCNE2
CHROMOSOME 21
ENSEMBL ID ENSG00000159197
ENTREZ ID 9992
UNIPROT ACCESSION NUMBER Q9Y6J6
GO MOLECULAR FUNCTION transmembrane transporter binding; potassium channel activity; voltage-gated ion channel activity; potassium channel regulator activity; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; delayed rectifier potassium channel activity; inward rectifier potassium channel activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-397014; hsa04971; R-HSA-5576891; R-HSA-5576890; R-HSA-5576893
2 combinations linked to KCNE2 OLI364; OLI218
2 variants linked to KCNE2 KCNE2:c.170T>C, p.Ile57Thr; KCNE2:c.178C>T, p.Phe60Leu
1 disease linked to KCNE2 Familial long QT syndrome

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