full name
potassium voltage-gated channel subfamily E regulatory subunit 1

synonyms
ISK, JLNS, JLNS2, LQT2%2F5, LQT5, MinK, KCNE1, ENSG00000180509

HGNC
HGNC:6240

Entrez Gene
Gene:3753

ENSEMBL
ENSG00000180509

location
chr: 21
start: 35790910
stop: 35884573
strand: -

OMIM
OMIM:176261: KCNE1 (Autosomal recessive inheritance)
OMIM:612347: Jervell and Lange-Nielsen syndrome 2
OMIM:613695: Long QT syndrome 5

transcripts
NM_000219.4
NM_001270404.1
NM_001270402.1
NM_001270403.1
NM_001270405.1
NM_001127669.2
NM_001127668.2
NM_001127670.2

pathways
Adrenergic signaling in cardiomyocytes [NCBI:908257] [KEGG:hsa04261] [PUBMED:15232578] [PUBMED:20923637] [PUBMED:10571541] [PUBMED:11604549] [PUBMED:17988210] [PUBMED:11805843] [PUBMED:15142747] [PUBMED:21212391] [PUBMED:20658186] [PUBMED:16765984] [PUBMED:19874988] [PUBMED:19883653] [PUBMED:15979723] [PUBMED:18407781] [PUBMED:22022314] [PUBMED:12439640] [PUBMED:17826821] [PUBMED:15765137]
Cardiac conduction [NCBI:1339115] [REACTOME:R-HSA-5576891] [PUBMED:19808464] [PUBMED:26140724] [PUBMED:21357845]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Phase 2 - plateau phase [NCBI:1339119] [REACTOME:R-HSA-5576893] [PUBMED:21357845] [PUBMED:19808464]
Phase 3 - rapid repolarisation [NCBI:1339120] [REACTOME:R-HSA-5576890] [PUBMED:19808464] [PUBMED:21357845]