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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9992
Gene name	Potassium voltage-gated channel subfamily E regulatory subunit 2
Gene symbol	KCNE2
Synonyms (NCBI Gene)	ATFB4LQT5LQT6MIRP1
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

Show/Hide all (2)

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

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

MIM	HGNC	e!Ensembl
603796	6242	ENSG00000159197

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

Interactions

View interactions

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

261

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital long QT syndrome	Pathogenic	rs16991654	RCV000058363
Long QT syndrome 3/6, digenic	Pathogenic	rs16991654	RCV000006428

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acquired long QT syndrome	Conflicting classifications of pathogenicity	rs199473367	RCV000058374
Acute myeloid leukemia	Benign; Likely benign	rs16991652	RCV005887324
Atrial fibrillation	Conflicting classifications of pathogenicity; not provided	rs74315449, rs199473366	RCV000058377 RCV000058371
Atrial fibrillation, familial, 4	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs202169020, rs2123423458, rs150790888, rs751276927, rs786205806, rs187917779, rs45610936, rs16991652, rs74315448, rs74315449, rs41315511, rs566735365, rs41260744, rs41314699, rs188625398 View all (15 more)	RCV002476755 RCV002495950 RCV002503503 RCV002484890 RCV000288510 RCV001142019 RCV002505230 RCV001139400 RCV001139401 RCV000006427 RCV000309143 RCV000261374 RCV000262658 RCV000296811 RCV002504145 RCV000407861 RCV000339806 RCV000355780 RCV002477436 RCV002485568 RCV002487797 RCV002498338 RCV002477193 RCV002467562 RCV001139399 RCV001142017 RCV001142021 RCV001142023 RCV001143831 RCV002491725
Cardiac arrhythmia	Conflicting classifications of pathogenicity; risk factor	rs74315447, rs74315448	RCV001841228 RCV001841229
Cardiovascular phenotype	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign; risk factor	rs779306606, rs1427987437, rs202169020, rs2123423791, rs150790888, rs587781005, rs751276927, rs2516741323, rs1235701363, rs376886316, rs1979561027, rs2516740698, rs786205807, rs2516741306, rs1271286914 View all (56 more)	RCV002341632 RCV002377673 RCV002456713 RCV006352377 RCV002458738 RCV003162567 RCV003375511 RCV002326367 RCV002326582 RCV002459199 RCV002452625 RCV002327860 RCV002452353 RCV002325000 RCV002456928 RCV002361577 RCV002389454 RCV002397105 RCV002412832 RCV002443854 RCV002450244 RCV002421713 RCV002457753 RCV002437158 RCV002410868 RCV002440029 RCV002442297 RCV004020036 RCV000254504 RCV006342146 RCV000618615 RCV002453589 RCV003308301 RCV004065980 RCV000245955 RCV002399310 RCV000241603 RCV004018576 RCV006342679 RCV003176526 RCV003165306 RCV003296637 RCV004992744 RCV004524861 RCV004524862 RCV002402067 RCV002429356 RCV000620110 RCV002413588 RCV002456196 RCV005652411 RCV000621147 RCV000617929 RCV000619029 RCV002422367 RCV002360705 RCV004993968 RCV002319942 RCV004027629 RCV002320007 RCV004994087 RCV002390835 RCV002444517 RCV000248455 RCV002444518 RCV002433561 RCV002433562 RCV002321557 RCV002415515 RCV005652497 RCV002411643 RCV002447147 RCV002348769 RCV006347629
Familial atrial fibrillation	Uncertain significance	rs188625398	RCV000344421
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs199473648	RCV000999581
KCNE2-related disorder	Conflicting classifications of pathogenicity; risk factor	rs74315447, rs74315448	RCV000407848 RCV004532298
Long QT syndrome	Conflicting classifications of pathogenicity; risk factor; Uncertain significance; Likely benign	rs74315447, rs74315449, rs188625398, rs141423405, rs2234916, rs199473365, rs199473648, rs142153692, rs148968498	RCV004772828 RCV000157256 RCV000391596 RCV000148522 RCV000845300 RCV000148523 RCV000171565 RCV000148519 RCV000148520
Long QT syndrome 6	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign; risk factor	rs779306606, rs1333677285, rs1427987437, rs202169020, rs774193019, rs74315449, rs2123423458, rs1011448773, rs150790888, rs893883306, rs772975913, rs587781005, rs751276927, rs2123424300, rs780534713 View all (78 more)	RCV001313654 RCV001319648 RCV001423327 RCV001432402 RCV001477437 RCV001873718 RCV002495950 RCV001995265 RCV002503503 RCV001963972 RCV002030302 RCV001505759 RCV001976563 RCV001876540 RCV002162621 RCV002134410 RCV002202480 RCV002246215 RCV002294908 RCV005058295 RCV005096939 RCV005097542 RCV003505269 RCV003100965 RCV003101762 RCV003102952 RCV003077157 RCV000381892 RCV005089857 RCV000648403 RCV000695566 RCV001049236 RCV003091562 RCV001852075 RCV002620258 RCV002806500 RCV002829479 RCV002890603 RCV000990346 RCV000006425 RCV000006426 RCV000490451 RCV003007188 RCV003055714 RCV003617146 RCV003617140 RCV003615649 RCV000402485 RCV000305803 RCV000316511 RCV000331809 RCV002504145 RCV000284906 RCV000354782 RCV000402537 RCV001410835 RCV001088045 RCV000555620 RCV000532040 RCV001395446 RCV002066943 RCV001464842 RCV000648402 RCV000678938 RCV000700143 RCV000816121 RCV001498762 RCV000853599 RCV000864704 RCV001463902 RCV000869347 RCV001414321 RCV000875438 RCV000464363 RCV000228047 RCV001854215 RCV001246221 RCV001086272 RCV002513765 RCV000576170 RCV001823107 RCV000990347 RCV001088249 RCV001050335 RCV001137161 RCV001142018 RCV001142020 RCV001142022 RCV001143832 RCV001208257 RCV001228752 RCV001228326 RCV001302151 RCV001299598 RCV001306232 RCV001307626
Long QT syndrome 6, acquired, susceptibility to	Benign; Likely benign	rs16991652	RCV000006424
Long QT syndrome, drug-associated	Conflicting classifications of pathogenicity	rs2234916	RCV000171812
Primary dilated cardiomyopathy	Uncertain significance	rs1555837113	RCV000497782
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs74315449	RCV000157256

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	31337358
Atrial Fibrillation	Associate	21924735, 21967835, 24460807, 31270966
Brugada Syndrome	Associate	21967835
Carcinoma Hepatocellular	Associate	31044566
Chronobiology Disorders	Associate	20042375
Convulsions benign familial neonatal dominant form	Associate	19863579
Coronary Artery Disease	Associate	25093840
Gastritis	Inhibit	23483772
Genetic Diseases Inborn	Associate	20042375
Heart Diseases	Associate	21967835
Hypoxia	Associate	26956495
Long QT Syndrome	Associate	16487223, 17597962, 18052691, 19029296, 19716085, 19863579, 20809527, 20920651, 21967835, 22677073, 23098067, 23936059, 24217263, 24561134, 24631769 View all (7 more)
Myocardial Infarction	Associate	25697262
Neoplasms	Associate	23483772
Seizures	Associate	19863579, 29672598
Stomach Neoplasms	Inhibit	23483772
Stomach Neoplasms	Associate	26840027, 37215115
Turner Syndrome	Associate	23936059

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