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 |