KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 9992
• Gene name: Potassium voltage-gated channel subfamily E regulatory subunit 2
• Gene symbol: KCNE2
• Synonyms (NCBI Gene): ATFB4, LQT5, LQT6, MIRP1
• Chromosome: 21
• Chromosome location: 21q22.11
• Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1080820	hsa-miR-3119	CLIP-seq
MIRT1080821	hsa-miR-3145-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	10219239
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	10219239
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11101505, 20533308
GO:0005764	Component	Lysosome	HDA	16780588
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IDA	19219384, 20533308
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:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10219239, 19219384
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	10219239
GO:0009986	Component	Cell surface	IDA	22180649
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	10219239, 19219384
GO:0015459	Function	Potassium channel regulator activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IDA	10219239
GO:0060306	Process	Regulation of membrane repolarization	IDA	10219239
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	10219239
GO:0071466	Process	Cellular response to xenobiotic stimulus	IDA	10219239
GO:0071805	Process	Potassium ion transmembrane transport	IDA	10219239
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	10219239
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	10219239
GO:0086009	Process	Membrane repolarization	IDA	10219239
GO:0086011	Process	Membrane repolarization during action potential	IBA
GO:0086011	Process	Membrane repolarization during action potential	IMP	10219239
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	10219239
GO:0097623	Process	Potassium ion export across plasma membrane	IBA
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	10219239
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	10219239
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	10219239
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IDA	22180649
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	IMP	10219239
GO:1990573	Process	Potassium ion import across plasma membrane	IMP	10219239

Other IDs

• MIM: 603796
• HGNC: 6242
• e!Ensembl: ENSG00000159197

Protein

• UniProt ID: Q9Y6J6
• Protein name: Potassium voltage-gated channel subfamily E member 2 (MinK-related peptide 1) (MiRP1) (Minimum potassium ion channel-related peptide 1) (Potassium channel subunit beta MiRP1)
• 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 (PubMed:10219239, PubMed:11034315, PubM
• PDB: 2M0Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02060	ISK_Channel	4 → 116	Slow voltage-gated potassium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain, heart, skeletal muscle, pancreas, placenta, kidney, colon and thymus. A small but significant expression is found in liver, ovary, testis, prostate, small intestine and leukocytes. Very low expression, nearly
• Sequence:

  MSTLSNFTQTLEDVFRRIFITYMDNWRQNTTAEQEALQAKVDAENFYYVILYLMVMIGMF
  SFIIVAILVSTVKSKRREHSNDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFK
  MSP

• Sequence length: 123

Pathways

KEGG Pathway	Reactome Pathway
Gastric acid secretion	Phase 3 - rapid repolarisation
	Phase 2 - plateau phase

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital long QT syndrome	Pathogenic	rs16991654	RCV000058363	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome 3/6, digenic	Pathogenic	rs16991654	RCV000006428	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (48)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acquired long QT syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	37985413	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation	Conflicting classifications of pathogenicity; not provided	ClinVar CTD, Disgenet CTD, Disgenet	15368194	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 13	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 14	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 15	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 2	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 3	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation, familial, 4	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL, 5	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 6	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 7	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 8	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 9	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Conflicting classifications of pathogenicity; risk factor	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHY, DILATED	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	37947095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign; risk factor	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	30804561	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	21378990, 24262325, 26343387, 28714974, 28714975, 29212778, 30104761, 32374345, 32469254, 32887874, 33020668, 34961328, 35285134, 36474045, 37248441, 37947095, 38965376, 39024449, 39537608	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial atrial fibrillation	Uncertain significance	ClinVar GWAS catalog	15368194	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL LONG QT SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	15368194	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNE2-related disorder	Conflicting classifications of pathogenicity; risk factor	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Conflicting classifications of pathogenicity; risk factor; Uncertain significance; Likely benign	ClinVar CTD, ClinGen, ClinVar, Disgenet CTD, ClinGen, ClinVar, Disgenet CTD, ClinGen, ClinVar, Disgenet CTD, ClinGen, ClinVar, Disgenet	10219239, 10984545, 14510655	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 6	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign; risk factor	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	16754665, 19862833, 28794082, 29672598, 30847666, 31737537	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 6, acquired, susceptibility to	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome, drug-associated	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	32632093, 34294844, 35115687	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	19198609, 26343387, 26708285, 33532862, 34594039, 37947095, 38072966, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	30104761, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	20301308, 24093767	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39379762	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	10219239	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (67)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	20625512		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	15176421, 16818210		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	25127743		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	31337358	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26307149		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26307149		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	14631130, 15368194, 24796621, 31270966		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	LHGDN	15368194		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	15368194		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	21924735, 21967835, 24460807, 31270966	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	15368194		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation, Familial, 4	Atrial Fibrillation	GENOMICS_ENGLAND_DG	11468227, 16301704		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation, Familial, 4	Atrial Fibrillation	UNIPROT_DG	15368194		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation, Familial, 4	Atrial Fibrillation	CLINVAR_DG	15368194		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation, Familial, 4	Atrial Fibrillation	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome	Brugada syndrome	Pubtator	21967835	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	23890619		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31044566	Associate	★☆☆☆☆ Found in Text Mining only
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1	Catecholaminergic Polymorphic Ventricular Tachycardia	BEFREE	22677073		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	20042375	Associate	★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	10688323, 11104743, 15023549, 15176425		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congestive heart failure	Congestive Heart Failure	BEFREE	31772612		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25093840, 30610379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	25093840	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28280005		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastritis	Gastritis	Pubtator	23483772	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21967835	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31772612		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	22549510		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26956495	Associate	★☆☆☆☆ Found in Text Mining only
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	BEFREE	18752142		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31044566		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10219239, 10400998, 10984545, 11463728, 11468227, 12185453, 12828861, 14761891, 15066947, 15306731, 15368194, 15840476, 16329159, 16487223, 17222736, 18052691, 18603586, 18752142, 19306396, 19716085, 19863579, 19907016, 21712262, 22166675, 22677073, 23098067, 23631727, 26123744, 26284702, 26956495, 27076034, 9445165, 9511785		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long QT Syndrome	CTD_human_DG	10219239, 10984545, 14510655		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	16487223, 17597962, 18052691, 19029296, 19716085, 19863579, 20809527, 20920651, 21967835, 22677073, 23098067, 23936059, 24217263, 24561134, 24631769, 26284702, 26956495, 27465075, 29497013, 30079003, 31679457, 40159220	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome 1	Long QT Syndrome	BEFREE	15731462, 18752142		★☆☆☆☆ Found in Text Mining only
LONG QT SYNDROME 3/6, DIGENIC Disorder	LONG QT SYNDROME DIGENIC	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Long Qt Syndrome 6	Long QT Syndrome	UNIPROT_DG	10219239, 12185453, 16922724, 19716085		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 6	Long QT Syndrome	GENOMICS_ENGLAND_DG	11468227, 16301704		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 6	Long QT Syndrome	BEFREE	15066947		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 6	Long QT Syndrome	CLINVAR_DG	15368194		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 6	Long QT Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16677757, 20625512		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25697262, 26708285		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	25697262	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	20625512		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30610379		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	15368194		★☆☆☆☆ Found in Text Mining only
Romano-Ward Syndrome	Romano-Ward Syndrome	BEFREE	18752142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	24093767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	19863579, 29672598	Associate	★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	24569893		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16677757, 20625512		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23483772	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26840027, 37215115	Associate	★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	14760488		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	23936059	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	15731462		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	10219239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation	Ventricular Fibrillation	CTD_human_DG	10219239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	26228265		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KCNE1 5 shared diseasesDilated cardiomyopathy, Cardiomyopathy, Long qt syndrome, Hereditary atrial fibrillation, Long qt syndrome, digenic 2 shared pathwaysPhase 3 - rapid repolarisation, Phase 2 - plateau phase 12 shared evidence sourcesDisgenet (Atrial fibrillation), Disgenet (Cardiomyopathy), Disgenet (Dilated cardiomyopathy), CTD (Long qt syndrome), GWAS catalog (Long qt syndrome), ClinGen (Long qt syndrome), Disgenet (Long qt syndrome), Orphanet (Hereditary atrial fibrillation), ClinVar (Long qt syndrome), HPO (Long qt syndrome), Disgenet (Long qt syndrome, digenic), Orphanet (Long qt syndrome) Related via 5 shared diseases including Dilated cardiomyopathy, Cardiomyopathy — evidence mostly Disgenet. SCN4B 3 shared diseasesDilated cardiomyopathy, Long qt syndrome, Hereditary atrial fibrillation 8 shared evidence sourcesDisgenet (Dilated cardiomyopathy), CTD (Long qt syndrome), ClinGen (Long qt syndrome), Disgenet (Long qt syndrome), Orphanet (Hereditary atrial fibrillation), ClinVar (Long qt syndrome), HPO (Long qt syndrome), Orphanet (Long qt syndrome) Related via 3 shared diseases including Dilated cardiomyopathy, Long qt syndrome — evidence mostly Disgenet. KCNE3 2 shared diseasesLong qt syndrome, Ventricular fibrillation 2 shared pathwaysPhase 3 - rapid repolarisation, Phase 2 - plateau phase 2 shared evidence sourcesDisgenet (Long qt syndrome), Disgenet (Ventricular fibrillation) Related via 2 shared diseases including Long qt syndrome, Ventricular fibrillation — evidence mostly Disgenet. AKAP9 3 shared diseasesDilated cardiomyopathy, Long qt syndrome, Ventricular fibrillation 2 shared pathwaysPhase 3 - rapid repolarisation, Phase 2 - plateau phase 8 shared evidence sourcesDisgenet (Dilated cardiomyopathy), CTD (Long qt syndrome), ClinGen (Long qt syndrome), Disgenet (Long qt syndrome), ClinVar (Long qt syndrome), HPO (Long qt syndrome), Orphanet (Long qt syndrome), Disgenet (Ventricular fibrillation) Related via 3 shared diseases including Dilated cardiomyopathy, Long qt syndrome — evidence mostly Disgenet. CALM3 3 shared diseasesCardiac arrhythmia, Cardiomyopathy, Long qt syndrome 1 shared pathwayGastric acid secretion 7 shared evidence sourcesDisgenet (Cardiomyopathy), CTD (Long qt syndrome), ClinGen (Long qt syndrome), Disgenet (Long qt syndrome), ClinVar (Long qt syndrome), HPO (Long qt syndrome), Orphanet (Long qt syndrome) Related via 3 shared diseases including Cardiac arrhythmia, Cardiomyopathy — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCNE1	5	["Dilated cardiomyopathy","Cardiomyopathy","Long qt syndrome","Hereditary atrial fibrillation","Long qt syndrome, digenic"]	2	["Phase 3 - rapid repolarisation","Phase 2 - plateau phase"]	12	["Disgenet (Atrial fibrillation)","Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","CTD (Long qt syndrome)","GWAS catalog (Long qt syndrome)","ClinGen (Long qt syndrome)","Disgenet (Long qt syndrome)","Orphanet (Hereditary atrial fibrillation)","ClinVar (Long qt syndrome)","HPO (Long qt syndrome)","Disgenet (Long qt syndrome, digenic)","Orphanet (Long qt syndrome)"]
SCN4B	3	["Dilated cardiomyopathy","Long qt syndrome","Hereditary atrial fibrillation"]	0	[]	8	["Disgenet (Dilated cardiomyopathy)","CTD (Long qt syndrome)","ClinGen (Long qt syndrome)","Disgenet (Long qt syndrome)","Orphanet (Hereditary atrial fibrillation)","ClinVar (Long qt syndrome)","HPO (Long qt syndrome)","Orphanet (Long qt syndrome)"]
KCNE3	2	["Long qt syndrome","Ventricular fibrillation"]	2	["Phase 3 - rapid repolarisation","Phase 2 - plateau phase"]	2	["Disgenet (Long qt syndrome)","Disgenet (Ventricular fibrillation)"]
AKAP9	3	["Dilated cardiomyopathy","Long qt syndrome","Ventricular fibrillation"]	2	["Phase 3 - rapid repolarisation","Phase 2 - plateau phase"]	8	["Disgenet (Dilated cardiomyopathy)","CTD (Long qt syndrome)","ClinGen (Long qt syndrome)","Disgenet (Long qt syndrome)","ClinVar (Long qt syndrome)","HPO (Long qt syndrome)","Orphanet (Long qt syndrome)","Disgenet (Ventricular fibrillation)"]
CALM3	3	["Cardiac arrhythmia","Cardiomyopathy","Long qt syndrome"]	1	["Gastric acid secretion"]	7	["Disgenet (Cardiomyopathy)","CTD (Long qt syndrome)","ClinGen (Long qt syndrome)","Disgenet (Long qt syndrome)","ClinVar (Long qt syndrome)","HPO (Long qt syndrome)","Orphanet (Long qt syndrome)"]

Diseases Linked via Similar Genes

Hypertrophic cardiomyopathy Linked via 2 of 5 related genesKCNE1, AKAP9 Catecholaminergic polymorphic ventricular tachycardia Linked via 2 of 5 related genesSCN4B, CALM3 Brugada syndrome Linked via 2 of 5 related genesKCNE3, AKAP9 Arrhythmogenic right ventricular cardiomyopathy Linked via 1 of 5 related genesKCNE1 Congenital hearing disorder Linked via 1 of 5 related genesKCNE1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hypertrophic cardiomyopathy	2	["KCNE1","AKAP9"]
Catecholaminergic polymorphic ventricular tachycardia	2	["SCN4B","CALM3"]
Brugada syndrome	2	["KCNE3","AKAP9"]
Arrhythmogenic right ventricular cardiomyopathy	1	["KCNE1"]
Congenital hearing disorder	1	["KCNE1"]