Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3753
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel subfamily E regulatory subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNE1
Synonyms (NCBI Gene) Gene synonyms aliases	ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
Chromosome Chromosome number	21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	21q22.12
Summary Summary of gene provided in NCBI Entrez Gene.	The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes

Show/Hide all(23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805128	C>T	Pathogenic, risk-factor, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, other	Missense variant, coding sequence variant
rs28933384	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs74315445	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs74315446	G>A,C	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs79654911	C>A,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs142511345	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs149338401	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199473351	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs199473362	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic, not-provided	Synonymous variant, missense variant, coding sequence variant
rs199473645	G>A,C,T	Uncertain-significance, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs281865421	CAGGGT>AGGGGG	Pathogenic	Missense variant, coding sequence variant
rs747321794	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs750349088	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs758346045	G>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs779124360	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064793159	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691762	->A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1244688796	C>T	Pathogenic	Stop gained, coding sequence variant
rs1402178514	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555843953	TGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568835906	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1568836457	CAGGGTGAAGAAGCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1601044831	->G	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot	17443681
MIRT002924	hsa-miR-1-3p	qRT-PCR	21169019
MIRT038264	hsa-miR-361-3p	CLASH	23622248
MIRT1080751	hsa-miR-1262	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT1080753	hsa-miR-1293	CLIP-seq
MIRT1080754	hsa-miR-2110	CLIP-seq
MIRT1080755	hsa-miR-2392	CLIP-seq
MIRT1080756	hsa-miR-3124-3p	CLIP-seq
MIRT1080757	hsa-miR-3148	CLIP-seq
MIRT1080758	hsa-miR-3159	CLIP-seq
MIRT1080759	hsa-miR-326	CLIP-seq
MIRT1080760	hsa-miR-330-5p	CLIP-seq
MIRT1080761	hsa-miR-3690	CLIP-seq
MIRT1080762	hsa-miR-3944-5p	CLIP-seq
MIRT1080763	hsa-miR-4254	CLIP-seq
MIRT1080764	hsa-miR-4270	CLIP-seq
MIRT1080765	hsa-miR-4271	CLIP-seq
MIRT1080766	hsa-miR-4441	CLIP-seq
MIRT1080767	hsa-miR-4460	CLIP-seq
MIRT1080768	hsa-miR-4462	CLIP-seq
MIRT1080769	hsa-miR-4483	CLIP-seq
MIRT1080770	hsa-miR-4638-3p	CLIP-seq
MIRT1080771	hsa-miR-4668-5p	CLIP-seq
MIRT1080772	hsa-miR-4701-3p	CLIP-seq
MIRT1080773	hsa-miR-4722-5p	CLIP-seq
MIRT1080774	hsa-miR-4725-3p	CLIP-seq
MIRT1080775	hsa-miR-4727-3p	CLIP-seq
MIRT1080776	hsa-miR-4742-5p	CLIP-seq
MIRT1080777	hsa-miR-4761-5p	CLIP-seq
MIRT1080778	hsa-miR-491-5p	CLIP-seq
MIRT1080779	hsa-miR-576-3p	CLIP-seq
MIRT1080780	hsa-miR-1181	CLIP-seq
MIRT1080781	hsa-miR-1183	CLIP-seq
MIRT1080782	hsa-miR-1202	CLIP-seq
MIRT1080783	hsa-miR-1265	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT1080784	hsa-miR-145	CLIP-seq
MIRT1080785	hsa-miR-146b-3p	CLIP-seq
MIRT1080786	hsa-miR-183	CLIP-seq
MIRT1080787	hsa-miR-198	CLIP-seq
MIRT1080788	hsa-miR-200b	CLIP-seq
MIRT1080789	hsa-miR-200c	CLIP-seq
MIRT1080790	hsa-miR-3140-3p	CLIP-seq
MIRT1080791	hsa-miR-323b-3p	CLIP-seq
MIRT1080792	hsa-miR-330-3p	CLIP-seq
MIRT1080793	hsa-miR-3622b-5p	CLIP-seq
MIRT1080794	hsa-miR-3657	CLIP-seq
MIRT1080795	hsa-miR-3909	CLIP-seq
MIRT1080796	hsa-miR-3972	CLIP-seq
MIRT1080797	hsa-miR-4252	CLIP-seq
MIRT1080798	hsa-miR-4279	CLIP-seq
MIRT1080799	hsa-miR-429	CLIP-seq
MIRT1080800	hsa-miR-4328	CLIP-seq
MIRT1080801	hsa-miR-4436a	CLIP-seq
MIRT1080802	hsa-miR-4514	CLIP-seq
MIRT1080803	hsa-miR-4645-5p	CLIP-seq
MIRT1080804	hsa-miR-4646-5p	CLIP-seq
MIRT1080805	hsa-miR-4669	CLIP-seq
MIRT1080806	hsa-miR-4673	CLIP-seq
MIRT1080807	hsa-miR-4690-3p	CLIP-seq
MIRT1080808	hsa-miR-4691-5p	CLIP-seq
MIRT1080809	hsa-miR-4692	CLIP-seq
MIRT1080810	hsa-miR-4733-5p	CLIP-seq
MIRT1080811	hsa-miR-4747-5p	CLIP-seq
MIRT1080812	hsa-miR-4755-3p	CLIP-seq
MIRT1080813	hsa-miR-4764-5p	CLIP-seq
MIRT1080814	hsa-miR-486-5p	CLIP-seq
MIRT1080815	hsa-miR-520d-5p	CLIP-seq
MIRT1080816	hsa-miR-524-5p	CLIP-seq
MIRT1080779	hsa-miR-576-3p	CLIP-seq
MIRT1080817	hsa-miR-586	CLIP-seq
MIRT1080818	hsa-miR-602	CLIP-seq
MIRT1080819	hsa-miR-940	CLIP-seq
MIRT2020018	hsa-miR-4446-5p	CLIP-seq
MIRT2020019	hsa-miR-4755-5p	CLIP-seq
MIRT2020020	hsa-miR-642a	CLIP-seq
MIRT2251872	hsa-miR-1	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT2251873	hsa-miR-206	CLIP-seq
MIRT2251874	hsa-miR-3125	CLIP-seq
MIRT2251875	hsa-miR-3916	CLIP-seq
MIRT1080797	hsa-miR-4252	CLIP-seq
MIRT1080801	hsa-miR-4436a	CLIP-seq
MIRT1080802	hsa-miR-4514	CLIP-seq
MIRT1080803	hsa-miR-4645-5p	CLIP-seq
MIRT1080804	hsa-miR-4646-5p	CLIP-seq
MIRT1080806	hsa-miR-4673	CLIP-seq
MIRT2251876	hsa-miR-4691-3p	CLIP-seq
MIRT1080809	hsa-miR-4692	CLIP-seq
MIRT2251877	hsa-miR-4712-3p	CLIP-seq
MIRT1080811	hsa-miR-4747-5p	CLIP-seq
MIRT2251878	hsa-miR-532-5p	CLIP-seq
MIRT2251879	hsa-miR-613	CLIP-seq
MIRT1080819	hsa-miR-940	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq
MIRT1080808	hsa-miR-4691-5p	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq

Show/Hide all(67)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002070	Process	Epithelial cell maturation	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	9230439
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	17289006
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	8900283, 9354802, 10400998, 11299204, 12522251, 19646991
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	24269949
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	9230439, 11101505, 11697903, 19521339, 20196769, 20533308, 25037568
GO:0005764	Component	Lysosome	HDA	16780588
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IDA	19219384
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9020846
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IC	8900283
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	17289006, 19219384, 19646991
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IPI	19521339
GO:0009986	Component	Cell surface	IDA	10400998
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	8900283, 10400998, 11220365, 12522251, 19219384
GO:0015459	Function	Potassium channel regulator activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0021750	Process	Vestibular nucleus development	IEA
GO:0030018	Component	Z disc	ISS	11697903
GO:0031433	Function	Telethonin binding	IPI	11697903
GO:0033363	Process	Secretory granule organization	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	17289006
GO:0043266	Process	Regulation of potassium ion transport	IDA	9230439
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0045121	Component	Membrane raft	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	9354802
GO:0071320	Process	Cellular response to cAMP	IDA	11299204
GO:0071805	Process	Potassium ion transmembrane transport	IDA	8900283, 9354802, 11299204
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	10400998
GO:0086003	Process	Cardiac muscle cell contraction	NAS	31834838
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	9354802
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IDA	10400998
GO:0086009	Process	Membrane repolarization	IDA	8900283
GO:0086011	Process	Membrane repolarization during action potential	IBA
GO:0086011	Process	Membrane repolarization during action potential	IDA	8900283, 11299204, 19646991
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IDA	8900283
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	10400998
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	NAS	31834838
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IEA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	10400998
GO:0090315	Process	Negative regulation of protein targeting to membrane	ISS
GO:0097623	Process	Potassium ion export across plasma membrane	IBA
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	8900283, 10400998, 17289006, 31834838
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	9354802
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	10400998
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	8900283
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IDA	19219384
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	9354802

MIM	HGNC	e!Ensembl
176261	6240	ENSG00000180509

Protein

UniProt ID

P15382

Protein name

Potassium voltage-gated channel subfamily E member 1 (Delayed rectifier potassium channel subunit IsK) (IKs producing slow voltage-gated potassium channel subunit beta Mink) (Minimal potassium channel) (MinK)

Protein function

Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE1 beta subunit modulates the gatin

PDB

2K21

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02060	ISK_Channel	2 → 126	Slow voltage-gated potassium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed:19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane po

Sequence

MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLG
IMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNT
HLPETKPSP

Sequence length

129

Interactions

View interactions

	KEGG		Reactome
	Adrenergic signaling in cardiomyocytes		Phase 3 - rapid repolarisation Phase 2 - plateau phase

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Long QT Syndrome	congenital long qt syndrome	rs28933384, rs199473354	N/A
Jervell-Lange Nielsen Syndrome	Jervell and Lange-Nielsen syndrome 2	rs779124360, rs281865421, rs1131691762, rs28933384, rs758346045, rs1244688796	N/A
Long QT Syndrome	long qt syndrome, long qt syndrome 5	rs1244688796, rs750349088, rs1064793159, rs1131691762, rs779124360, rs1568835906, rs281865421, rs1555843898, rs1555843953, rs28933384, rs758346045, rs199473354	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Atrial Fibrillation	atrial fibrillation	N/A	N/A	GenCC
cardiac arrhythmia	Cardiac arrhythmia	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Coronary Syndrome	Associate	23535507
Aortic Dissection	Associate	35178459
Arrhythmias Cardiac	Associate	19019189, 19340287, 30461122, 31308327, 31337358, 33040543, 36921038
Atrial Fibrillation	Associate	19305639, 21924735, 21967835, 22471742, 23020083, 25234231, 32164657, 38139087
Atrial Remodeling	Associate	38139087
Blast Injuries	Associate	31621494
Brugada Syndrome	Associate	21967835
Cardiomyopathy Hypertrophic	Associate	38139087
Deafness	Associate	25234231, 33040543
Death Sudden	Associate	30461122
Death Sudden Cardiac	Associate	30461122, 31941373
Diabetes Mellitus	Associate	26489030
Diabetes Mellitus Type 1	Associate	15635070
Endometrial Neoplasms	Associate	19399947
Gardner Syndrome	Associate	19305639
Hearing Loss	Associate	31621494, 31835641
Hearing Loss Noise Induced	Associate	29301492, 32176153
Hearing Loss Sensorineural	Associate	20146813, 30461122
Heart Arrest	Associate	20823649, 31308327, 31941373
Heart Diseases	Associate	21967835, 23535507
Heterotaxy Syndrome	Associate	38139087
Hypokalemia	Associate	24419801
Jervell And Lange Nielsen Syndrome 2	Associate	31941373
Jervell Lange Nielsen Syndrome	Associate	14510661, 20890437, 25453094, 28364778, 30461122, 33040543
Long QT Syndrome	Associate	16487223, 17597962, 18052691, 19305408, 19340287, 19716085, 20809527, 20823649, 20920651, 21244686, 21712262, 21967835, 22100668, 22677073, 23098067 View all (17 more)
Long Qt Syndrome 2	Associate	21712262
Long Qt Syndrome 5	Associate	19340287, 21712262, 31679457
Meniere Disease	Associate	31058602
Myocardial Ischemia	Associate	31308327
Nonsyndromic Deafness	Associate	30461122
Polymorphic catecholergic ventricular tachycardia	Associate	26228265
Romano Ward Syndrome	Associate	21244686, 25585005, 30461122
Seizures	Associate	29672598
Sleep Apnea Obstructive	Associate	27543307
ST Elevation Myocardial Infarction	Associate	26367242
Sudden Infant Death	Associate	25234231
Sudden Unexpected Death in Epilepsy	Associate	27135274
Tachycardia	Associate	21712262
Tinnitus	Associate	23224734, 31621494, 34282101
Torsades de Pointes	Associate	22100668
Ventricular Fibrillation	Associate	20823649
Ventricular Premature Complexes	Associate	33040543

KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)