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Aliases for KCNE2 Gene

Aliases for KCNE2 Gene

  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 2 2 3
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 2 2 3
  • Minimum Potassium Ion Channel-Related Peptide 1 3 4
  • Potassium Channel Subunit Beta MiRP1 3 4
  • MinK-Related Peptide 1 3 4
  • ATFB4 3 6
  • MIRP1 3 6
  • LQT6 3 6
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 2 3
  • Potassium Voltage-Gated Channel Subfamily E Member 2 3
  • Voltage-Gated K+ Channel Subunit MIRP1 3
  • Potassium Channel Subunit, MiRP1 3
  • MinK-Related Peptide-1 3
  • LQT5 3

External Ids for KCNE2 Gene

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 Channel, Voltage Gated Subfamily E Regulatory Beta 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 Antiarrhythmic Pathway, Pharmacodynamics and Salivary secretion. GO annotations related to this gene include ion channel binding and potassium channel regulator activity.

UniProtKB/Swiss-Prot 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. 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 KCNQ1/KVLTQ1 and elicit a voltage-independent current. May associate with HCN1 and HCN2 and increase potassium current

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 pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNE2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNE2 Gene

Genomics for KCNE2 Gene

Genomic Location for KCNE2 Gene

Start:
34,364,024 bp from pter
End:
34,371,389 bp from pter
Size:
7,366 bases
Orientation:
Plus strand

Genomic View for KCNE2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE2 Gene

Regulatory Elements for KCNE2 Gene

Proteins for KCNE2 Gene

  • 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:
    • Associates with KCNH2/ERG1. May associate with KCNQ1/KVLQT1, KCNQ2 and KCNQ3. Associates with HCN1 and probably HCN2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for KCNE2 Gene

neXtProt entry for KCNE2 Gene

Proteomics data for KCNE2 Gene at MOPED

Post-translational modifications for KCNE2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn6 and Asn29

Other Protein References for KCNE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNE2 Gene

Domains for KCNE2 Gene

Gene Families for KCNE2 Gene

HGNC:
  • KCN :Potassium channels

Suggested Antigen Peptide Sequences for KCNE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6J6

UniProtKB/Swiss-Prot:

KCNE2_HUMAN
Family:
  • Belongs to the potassium channel KCNE family.:
    • Q9Y6J6
genes like me logo Genes that share domains with KCNE2: view

Function for KCNE2 Gene

Molecular function for KCNE2 Gene

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
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. 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 KCNQ1/KVLTQ1 and elicit a voltage-independent current. May associate with HCN1 and HCN2 and increase potassium current

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 IDA 10219239
GO:0005249 voltage-gated potassium channel activity --
GO:0005251 contributes_to delayed rectifier potassium channel activity IDA 10219239
GO:0005515 protein binding --
GO:0015459 potassium channel regulator activity IDA 10219239
genes like me logo Genes that share ontologies with KCNE2: view
genes like me logo Genes that share phenotypes with KCNE2: view

Animal Models for KCNE2 Gene

MGI Knock Outs for KCNE2:

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

Localization for KCNE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNE2 Gene COMPARTMENTS Subcellular localization image for KCNE2 gene
Compartment Confidence
lysosome 5
vacuole 5
plasma membrane 4
nucleus 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 16780588
GO:0005886 plasma membrane IDA 16780588
GO:0008076 voltage-gated potassium channel complex IDA 10219239
GO:0009986 cell surface IDA 22180649
GO:0016020 membrane --
genes like me logo Genes that share ontologies with KCNE2: view

Pathways for KCNE2 Gene

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

Pathways by source for KCNE2 Gene

1 Qiagen pathway for KCNE2 Gene
1 PharmGKB pathway for KCNE2 Gene
1 KEGG pathway for KCNE2 Gene

Interacting Proteins for KCNE2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000290310%0d%0a9606.ENSP00000155840%0d%0a9606.ENSP00000262186%0d%0a9606.ENSP00000262623%0d%0a
Selected Interacting proteins: ENSP00000290310 Q9Y6J6-KCNE2_HUMAN for KCNE2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0007568 aging IEA --
GO:0010107 potassium ion import IMP 10219239
GO:0034613 cellular protein localization IEA --
GO:0035690 cellular response to drug IDA 10219239
genes like me logo Genes that share ontologies with KCNE2: view

Compounds for KCNE2 Gene

(5) Tocris Compounds for KCNE2 Gene

Compound Action Cas Number
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
ICA 110381 KV7.2/7.3 activator; displays anticonvulsant properties [325457-99-6]
JNJ 303 Potent and selective IKs blocker [878489-28-2]
ShK-Dap22 Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro [220384-25-8]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]

(1) HMDB Compounds for KCNE2 Gene

Compound Synonyms Cas Number PubMed IDs
Potassium
  • K+
7440-09-7

(2) Novoseek inferred chemical compound relationships for KCNE2 Gene

Compound -log(P) Hits PubMed IDs
potassium 71.2 17
sodium 36.7 6
genes like me logo Genes that share compounds with KCNE2: view

Transcripts for KCNE2 Gene

mRNA/cDNA for KCNE2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNE2 Gene

Potassium voltage-gated channel, Isk-related family, member 2:
Representative Sequences:

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

No ASD Table

Relevant External Links for KCNE2 Gene

GeneLoc Exon Structure for
KCNE2
ECgene alternative splicing isoforms for
KCNE2

Expression for KCNE2 Gene

mRNA expression in normal human tissues 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 (45.3).

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.
genes like me logo Genes that share expressions with KCNE2: view

No data available for Protein expression 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 35
  • 99.19 (n)
  • 99.19 (a)
KCNE2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNE2 35
  • 85.37 (n)
  • 86.18 (a)
KCNE2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNE2 35
  • 89.7 (n)
  • 91.06 (a)
KCNE2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcne2 35
  • 82.66 (n)
  • 84.55 (a)
Kcne2 16
Kcne2 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNE2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE2 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcne2 35
  • 82.11 (n)
  • 82.11 (a)
chicken
(Gallus gallus)
Aves KCNE2 35
  • 70.49 (n)
  • 71.31 (a)
KCNE2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNE2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490092 35
  • 64.51 (n)
  • 60.19 (a)
Species with no ortholog for KCNE2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for KCNE2 Gene

Selected SIMAP similar genes for KCNE2 Gene using alignment to 2 proteins:

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

No data available for Paralogs for KCNE2 Gene

Variants for KCNE2 Gene

Sequence variations from dbSNP and Humsavar for KCNE2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs1010667 -- 34,363,162(+) TTGGA(A/T)GTGGT upstream-variant-2KB
rs1010668 -- 34,365,859(+) ATTTG(G/T)TTTTT intron-variant
rs2032108 -- 34,367,440(+) TACAT(G/T)GCTTA intron-variant
rs2234916 Benign, - 34,370,500(+) ATTTC(A/G)CACAG reference, missense
rs4816481 -- 34,364,922(+) CTGGA(A/G)ACAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834088 CNV Loss 17160897
nsv520827 CNV Loss 19592680

Relevant External Links for KCNE2 Gene

HapMap Linkage Disequilibrium report
KCNE2
Human Gene Mutation Database (HGMD)
KCNE2
Locus Specific Mutation Databases (LSDB)
KCNE2

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

Disorders for KCNE2 Gene

(2) OMIM Diseases for KCNE2 Gene (603796)

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}. Note=The disease is caused by mutations 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 mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for KCNE2 Gene

Disease -log(P) Hits PubMed IDs
long qt syndrome 93.5 12
romano-ward syndrome 87 3
atrial fibrillation, familial 83.9 1
death sudden 73.4 2
arrhythmia 72.4 10

Relevant External Links for KCNE2

GeneTests
KCNE2
GeneReviews
KCNE2
Genetic Association Database (GAD)
KCNE2
Human Genome Epidemiology (HuGE) Navigator
KCNE2
genes like me logo Genes that share disorders with KCNE2: view

Publications for KCNE2 Gene

  1. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID: 10219239) Abbott G.W. … Goldstein S.A.N. (Cell 1999) 2 3 4 23
  2. Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome. (PMID: 11289718) Itoh T. … Tanaka T. (J. Hum. Genet. 2001) 3 23 48
  3. Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. (PMID: 12185453) Isbrandt D. … Schulze-Bahr E. (J. Mol. Med. 2002) 3 4 23
  4. Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. (PMID: 11874988) Abbott G.W. … Goldstein S.A.N. (FASEB J. 2002) 3 4 23
  5. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. (PMID: 14661677) Ackerman M.J. … Curran M.E. (Mayo Clin. Proc. 2003) 3 23 48

Products for KCNE2 Gene

Sources for KCNE2 Gene

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