Gene table of KCNE1 : potassium voltage-gated channel subfamily E regulatory subunit 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNE1	OMIM link	Number of associated genes	genes
613035	HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO	ClinVar	link to OMIM	1	KCNE1
612347	JERVELL AND LANGE-NIELSEN SYNDROME 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNE1
220400	JERVELL AND LANGE-NIELSEN SYNDROME 1	ClinVar	link to OMIM	2	KCNQ1, KCNE1
PS192500	LONG QT SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	16	ALG10, KCNJ5, KCNH2, CALM1, CALM2, KCNE1, ANK2, AKAP9, SCN5A, SCN4B, SNTA1, CACNA1C, KCNE2, KCNJ2, KCNQ1, CAV3
115000	CARDIAC ARRHYTHMIA	ClinVar	link to OMIM	25	KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1

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Annotation of the gene KCNE1

Associated genes in ENSEMBL

ENSG00000180509

Associated proteins - SwissProt Accession ID

P15382

Associated PDB IDs

2k21

Cytogenetic Band

21q22.12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Adrenergic signaling in cardiomyocytes	hsa04261	5.44

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
cation channel activity	GO:0005261	4.04
binding	GO:0005488	0.18
molecular function regulator	GO:0098772	2.51
telethonin binding	GO:0031433	8.13
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	7.79
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
voltage-gated cation channel activity	GO:0022843	4.83
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	8.35
channel regulator activity	GO:0016247	4.88
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
potassium channel regulator activity	GO:0015459	5.93
protein binding	GO:0005515	0.46
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
substrate-specific transporter activity	GO:0022892	2.72
delayed rectifier potassium channel activity	GO:0005251	6.15
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
voltage-gated ion channel activity	GO:0005244	4.49
cytoskeletal protein binding	GO:0008092	3.02
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
voltage-gated potassium channel activity	GO:0005249	5.24
substrate-specific channel activity	GO:0022838	3.67
potassium ion transmembrane transporter activity	GO:0015079	4.77