KCNE2 Gene (Protein Coding)

Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2

GC21P034364
GIFtS:
42
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, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of... See more...

Aliases for KCNE2 Gene

Aliases for KCNE2 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2 2 3 5
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 2 2 3
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 2 2 3
  • Potassium Voltage-Gated Channel Subfamily E Member 2 3 4
  • Minimum Potassium Ion Channel-Related Peptide 1 3 4
  • Potassium Channel Subunit Beta MiRP1 3 4
  • LQT6 2 3
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 2 3
  • Voltage-Gated K+ Channel Subunit MIRP1 3
  • Potassium Channel Subunit, MiRP1 3
  • MinK-Related Peptide-1 3
  • MinK-Related Peptide 1 4
  • ATFB4 3
  • MIRP1 3
  • KCNE2 5
  • MiRP1 2
  • LQT5 3

External Ids for KCNE2 Gene

Previous GeneCards Identifiers for KCNE2 Gene

  • GC21P032313
  • GC21P034656
  • GC21P034658
  • GC21P035736
  • GC21P021214

Summaries for KCNE2 Gene

Entrez Gene Summary for KCNE2 Gene

  • 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, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNE2 Gene

KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2) is a Protein Coding gene. Diseases associated with KCNE2 include Long Qt Syndrome 6 and Atrial Fibrillation, Familial, 4. Among its related pathways are Cardiac conduction and Antiarrhythmic Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNE1.

UniProtKB/Swiss-Prot Summary for KCNE2 Gene

  • Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).

Tocris Summary for KCNE2 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNE2 Gene

Additional gene information for KCNE2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNE2 Gene

Genomics for KCNE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KCNE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH21J034361 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.1 99 5.4 ZNF654 YY1 CTCF REST SIN3A TRIM22 ZNF513 FOXA2 RAD21 RFX5 KCNE2 FAM243A RCAN1 SMIM11A LOC105372791 ENSG00000225555 MN298114-127 ENSG00000272657
GH21J034459 Promoter 1.2 EPDnew Ensembl CraniofacialAtlas 11.2 +95.5 95494 1 KLF1 SP3 TCF7 KCNE1 lnc-SMIM34A-1 SMIM11A ENSG00000225555 KCNE2 SMIM34A RCAN1 FAM243A ENSG00000221398 MN298114-127
GH21J034455 Enhancer 0.6 Ensembl ENCODE 11.2 +92.1 92095 1.4 BHLHE40 L3MBTL2 MGA ENSG00000221398 SMIM34A KCNE1 SMIM11A ENSG00000225555 KCNE2 RCAN1 FAM243A lnc-SMIM34A-1 HSALNG0132850
GH21J034959 Enhancer 0.5 dbSUPER 4.8 +596.1 596087 1.8 ZIC2 REST CEBPB CTCF DACH1 KCNE2 lnc-RCAN1-6 HSALNG0132880-001 HSALNG0132875 CLIC6
GH21J034701 Enhancer 0.9 FANTOM5 Ensembl ENCODE 1.6 +339.6 339646 3.9 GATA2 CEBPB CHD2 POLR2A NR4A1 FOS CEBPG CLIC6 KCNE2 lnc-RUNX1-4 HSALNG0132861
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNE2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNE2

Top Transcription factor binding sites by QIAGEN in the KCNE2 gene promoter:
  • AP-2rep
  • E2F
  • E2F-1
  • ER-alpha
  • GATA-1
  • GATA-2
  • GATA-3
  • HSF2
  • Ik-1

Genomic Locations for KCNE2 Gene

Latest Assembly
chr21:34,364,006-34,371,381
(GRCh38/hg38)
Size:
7,376 bases
Orientation:
Plus strand

Previous Assembly
chr21:35,736,305-35,743,680
(GRCh37/hg19 by Entrez Gene)
Size:
7,376 bases
Orientation:
Plus strand

chr21:35,736,323-35,743,688
(GRCh37/hg19 by Ensembl)
Size:
7,366 bases
Orientation:
Plus strand

Genomic View for KCNE2 Gene

Genes around KCNE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNE2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNE2 Gene

Proteins for KCNE2 Gene

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  • Protein details for KCNE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6J6-KCNE2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily E member 2
    Protein Accession:
    Q9Y6J6
    Secondary Accessions:
    • A5H1P3
    • D3DSF8
    • Q52LJ5

    Protein attributes for KCNE2 Gene

    Size:
    123 amino acids
    Molecular mass:
    14472 Da
    Quaternary structure:
    • Interacts with KCNB1 (By similarity). Associates with KCNH2/ERG1 (PubMed:10219239). May associate with KCNQ2 and KCNQ3 (PubMed:11034315,). Associates with HCN1 and probably HCN2. Heteromultimer with KCNC2. Interacts with KCNC2 (By similarity). Interacts with KCNQ1; forms a heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505, PubMed:20533308).

    Three dimensional structures from OCA and Proteopedia for KCNE2 Gene

neXtProt entry for KCNE2 Gene

Post-translational modifications for KCNE2 Gene

  • Glycosylation at Asn6 and Asn29
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNE2 Gene

Domains & Families for KCNE2 Gene

Gene Families for KCNE2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for KCNE2 Gene

InterPro:
Blocks:
  • KCNE voltage-gated K+ channel beta subunit family signature
  • KCNE voltage-gated K+ channel beta-2 subunit signature

Suggested Antigen Peptide Sequences for KCNE2 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel subunit beta MiRP1 (KCNE2_HUMAN)
  • Potassium voltage-gated channel subfamily E member (Q2N1I3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6J6

UniProtKB/Swiss-Prot:

KCNE2_HUMAN :
  • Belongs to the potassium channel KCNE family.
Family:
  • Belongs to the potassium channel KCNE family.
genes like me logo Genes that share domains with KCNE2: view

Function for KCNE2 Gene

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  6. Cell Lines for research

Molecular function for KCNE2 Gene

UniProtKB/Swiss-Prot Function:
Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).
GENATLAS Biochemistry:
potassium voltage channel,Isk-related subfamily member,expressed in cardiac and skeletal muscle,associating with KCNH2 (HERG) to generate a rapid delayed-rectifier channel (differing from the channel exclusively made of KCNH2),central to the control of the heart rate and rhythm

Phenotypes From GWAS Catalog for KCNE2 Gene

Gene Ontology (GO) - Molecular Function for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 contributes_to inward rectifier potassium channel activity IEA,IDA 10219239
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005251 contributes_to delayed rectifier potassium channel activity IEA,IDA 10219239
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNE2: view
genes like me logo Genes that share phenotypes with KCNE2: view

Human Phenotype Ontology for KCNE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNE2 Gene

MGI Knock Outs for KCNE2:
  • Kcne2 Kcne2<tm1a(EUCOMM)Wtsi>
  • Kcne2 Kcne2<tm1Gwab>

Animal Models for research

  • Taconic Biosciences Mouse Models for KCNE2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE2

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for KCNE2 Gene

Localization for KCNE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE2 Gene

Cell membrane. Single-pass type I membrane protein. Note=Colocalizes with KCNB1 at the plasma membrane. {ECO:0000250 UniProtKB:P63161}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNE2 gene
Compartment Confidence
plasma membrane 5
lysosome 4
endoplasmic reticulum 3
golgi apparatus 3
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome HDA 16780588
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0008076 colocalizes_with voltage-gated potassium channel complex IEA,IDA 19219384
genes like me logo Genes that share ontologies with KCNE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNE2 Gene

Pathways & Interactions for KCNE2 Gene

genes like me logo Genes that share pathways with KCNE2: view

Pathways by source for KCNE2 Gene

1 KEGG pathway for KCNE2 Gene
1 Qiagen pathway for KCNE2 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0007568 aging IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0035690 cellular response to drug IEA,IDA 10219239
genes like me logo Genes that share ontologies with KCNE2: view

No data available for SIGNOR curated interactions for KCNE2 Gene

Drugs & Compounds for KCNE2 Gene

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(7) Drugs for KCNE2 Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Experimental Pharma 0
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Miconazole Approved, Investigational, Vet_approved Pharma Target, inhibitor 3164
Promethazine Approved, Investigational Pharma Target, inducer 494
Chromanol 293B Pharma IKs blocker. Also blocks ICFTR 0

(2) Additional Compounds for KCNE2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kaliotoxin
145199-73-1

(4) Tocris Compounds for KCNE2 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNE2: view

Transcripts for KCNE2 Gene

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mRNA/cDNA for KCNE2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE2

Alternative Splicing Database (ASD) splice patterns (SP) for KCNE2 Gene

No ASD Table

Relevant External Links for KCNE2 Gene

GeneLoc Exon Structure for
KCNE2

Expression for KCNE2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNE2 Gene

mRNA expression in normal human tissues for KCNE2 Gene
mRNA expression by GTEx for KCNE2 GenemRNA expression by BioGPS for KCNE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNE2 Gene

This gene is overexpressed in Stomach (x45.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNE2

SOURCE GeneReport for Unigene cluster for KCNE2 Gene:

Hs.736062

mRNA Expression by UniProt/SwissProt for KCNE2 Gene:

Q9Y6J6-KCNE2_HUMAN
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 undetectable, in lung and spleen.

Evidence on tissue expression from TISSUES for KCNE2 Gene

  • Heart(4.4)
  • Stomach(3.8)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNE2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
genes like me logo Genes that share expression patterns with KCNE2: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNE2 Gene

Orthologs for KCNE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KCNE2 29 30
  • 99.19 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KCNE2 29 30
  • 89.7 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KCNE2 29 30
  • 85.37 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia KCNE2 30
  • 85 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Kcne2 29 16 30
  • 82.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kcne2 29
  • 82.11 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia KCNE2 30
  • 57 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KCNE2 29 30
  • 70.49 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KCNE2 30
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490092 29
  • 64.51 (n)
Species where no ortholog for KCNE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KCNE2 Gene

ENSEMBL:
Gene Tree for KCNE2 (if available)
TreeFam:
Gene Tree for KCNE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNE2: view image
Alliance of Genome Resources:
Additional Orthologs for KCNE2

Paralogs for KCNE2 Gene

Paralogs for KCNE2 Gene

(1) SIMAP similar genes for KCNE2 Gene using alignment to 2 proteins:

  • KCNE2_HUMAN
  • Q2N1I3_HUMAN
genes like me logo Genes that share paralogs with KCNE2: view

Variants for KCNE2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNE2 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
1003090 Uncertain Significance: Long QT syndrome 6 34,370,822(+) G/T
NM_172201.2(KCNE2):c.344G>T (p.Gly115Val) 		MISSENSE
1005300 Uncertain Significance: Long QT syndrome 6 34,370,699(+) C/A
NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr) 		MISSENSE
1008832 Uncertain Significance: Long QT syndrome 6 34,370,843(+) C/T
NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe) 		MISSENSE
1010050 Uncertain Significance: Long QT syndrome 6 34,370,845(+) C/T
NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser) 		MISSENSE
1014862 Uncertain Significance: Long QT syndrome 6 34,370,524(+) C/T
NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNE2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCNE2 Gene

Variant ID Type Subtype PubMed ID
dgv4426n100 CNV gain 25217958
dgv7824n54 CNV gain 21841781
esv2762109 CNV gain 21179565
esv3575386 CNV gain 25503493
esv3646921 CNV loss 21293372
nsv1055429 CNV gain 25217958
nsv520827 CNV loss 19592680
nsv834088 CNV loss 17160897

Variation tolerance for KCNE2 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNE2 Gene

Human Gene Mutation Database (HGMD)
KCNE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNE2
Leiden Open Variation Database (LOVD)
KCNE2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNE2 Gene

Disorders for KCNE2 Gene

MalaCards: The human disease database

(36) MalaCards diseases for KCNE2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KCNE2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNE2_HUMAN
  • Long QT syndrome 6 (LQT6) [MIM:613693]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:10219239, ECO:0000269 PubMed:12185453, ECO:0000269 PubMed:16922724, ECO:0000269 PubMed:19716085}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Atrial fibrillation, familial, 4 (ATFB4) [MIM:611493]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:15368194}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KCNE2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNE2: view

No data available for Genatlas for KCNE2 Gene

Publications for KCNE2 Gene

  1. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. (PMID: 19716085) Kapplinger JD … Ackerman MJ (Heart rhythm 2009) 3 4 22 40
  2. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (PMID: 15368194) Yang Y … Chen Y (American journal of human genetics 2004) 3 4 22 72
  3. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID: 10219239) Abbott GW … Goldstein SA (Cell 1999) 2 3 4 22
  4. Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. (PMID: 19322600) Millat G … Rousson R (Pediatric cardiology 2009) 3 22 40
  5. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt DR … Palotie A (Human molecular genetics 2008) 3 22 40

ExternalLinks

View latest publications for KCNE2 gene in Mastermind

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