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Aliases for KCNE3 Gene

Aliases for KCNE3 Gene

  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 3 2 3
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 3 2 3
  • Minimum Potassium Ion Channel-Related Peptide 2 3 4
  • Potassium Channel Subunit Beta MiRP2 3 4
  • MinK-Related Peptide 2 3 4
  • HOKPP 3 6
  • HYPP 3 6
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 3
  • Potassium Voltage-Gated Channel Subfamily E Member 3 3
  • Voltage-Gated K+ Channel Subunit MIRP2 3
  • MiRP2 3

External Ids for KCNE3 Gene

Previous GeneCards Identifiers for KCNE3 Gene

  • GC11M076494
  • GC11M075705
  • GC11M074388
  • GC11M073892
  • GC11M073843
  • GC11M074165
  • GC11M070461

Summaries for KCNE3 Gene

Entrez Gene Summary for KCNE3 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 type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNE3 Gene

KCNE3 (Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 3) is a Protein Coding gene. Diseases associated with KCNE3 include brugada syndrome 6 and hypokalemic periodic paralysis, type 1. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Protein digestion and absorption. GO annotations related to this gene include voltage-gated potassium channel activity and potassium channel regulator activity.

UniProtKB/Swiss-Prot for KCNE3 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 KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion

Tocris Summary for KCNE3 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 KCNE3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNE3 Gene

Genomics for KCNE3 Gene

Regulatory Elements for KCNE3 Gene

Genomic Location for KCNE3 Gene

Start:
74,454,841 bp from pter
End:
74,467,729 bp from pter
Size:
12,889 bases
Orientation:
Minus strand

Genomic View for KCNE3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE3 Gene

Proteins for KCNE3 Gene

  • Protein details for KCNE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6H6-KCNE3_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily E member 3
    Protein Accession:
    Q9Y6H6
    Secondary Accessions:

    Protein attributes for KCNE3 Gene

    Size:
    103 amino acids
    Molecular mass:
    11710 Da
    Quaternary structure:
    • Associates with KCNC4/Kv3.4. May associate with KCNQ1/KCLQT1

neXtProt entry for KCNE3 Gene

Proteomics data for KCNE3 Gene at MOPED

Post-translational modifications for KCNE3 Gene

  • Glycosylation at Asn5, Asn22, and Asn41
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNE3 Gene

No data available for DME Specific Peptides for KCNE3 Gene

Domains for KCNE3 Gene

Gene Families for KCNE3 Gene

HGNC:
  • KCN :Potassium channels

Graphical View of Domain Structure for InterPro Entry

Q9Y6H6

UniProtKB/Swiss-Prot:

KCNE3_HUMAN :
  • Q9Y6H6
Family:
  • Belongs to the potassium channel KCNE family.
genes like me logo Genes that share domains with KCNE3: view

Function for KCNE3 Gene

Molecular function for KCNE3 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. Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion

Gene Ontology (GO) - Molecular Function for KCNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0015459 potassium channel regulator activity IBA --
genes like me logo Genes that share ontologies with KCNE3: view
genes like me logo Genes that share phenotypes with KCNE3: view

Animal Models for KCNE3 Gene

MGI Knock Outs for KCNE3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNE3 Gene

Localization for KCNE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE3 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNE3 Gene COMPARTMENTS Subcellular localization image for KCNE3 gene
Compartment Confidence
cytosol 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KCNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008076 voltage-gated potassium channel complex IBA --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with KCNE3: view

Pathways for KCNE3 Gene

genes like me logo Genes that share pathways with KCNE3: view

Pathways by source for KCNE3 Gene

1 Qiagen pathway for KCNE3 Gene
1 PharmGKB pathway for KCNE3 Gene
1 KEGG pathway for KCNE3 Gene

Gene Ontology (GO) - Biological Process for KCNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0034765 regulation of ion transmembrane transport --
GO:0043266 regulation of potassium ion transport --
GO:0060306 regulation of membrane repolarization IBA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNE3: view

Compounds for KCNE3 Gene

(5) Tocris Compounds for KCNE3 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker [504-24-5]
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
Margatoxin Potent KV1.3 channel blocker [145808-47-5]
MaxiPost Potassium channel modulator; exerts subtype-specific effects [187523-35-9]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents [122955-13-9]

(3) HMDB Compounds for KCNE3 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Cyclic AMP
  • Cyclic AMP
60-92-4
Potassium
  • K+
7440-09-7

(1) Novoseek inferred chemical compound relationships for KCNE3 Gene

Compound -log(P) Hits PubMed IDs
potassium 69.1 9
genes like me logo Genes that share compounds with KCNE3: view

Transcripts for KCNE3 Gene

Unigene Clusters for KCNE3 Gene

Potassium voltage-gated channel, Isk-related family, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNE3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2: - -
SP3:

Relevant External Links for KCNE3 Gene

GeneLoc Exon Structure for
KCNE3
ECgene alternative splicing isoforms for
KCNE3

Expression for KCNE3 Gene

mRNA expression in normal human tissues for KCNE3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNE3 Gene

This gene is overexpressed in Whole Blood (15.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNE3 Gene

SOURCE GeneReport for Unigene cluster for KCNE3 Gene Hs.523899

mRNA Expression by UniProt/SwissProt for KCNE3 Gene

Q9Y6H6-KCNE3_HUMAN
Tissue specificity: Widely expressed with highest levels in kidney and moderate levels in small intestine.
genes like me logo Genes that share expressions with KCNE3: view

Orthologs for KCNE3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNE3 35
  • 99.68 (n)
  • 100 (a)
KCNE3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNE3 35
  • 90.24 (n)
  • 91.92 (a)
KCNE3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNE3 35
  • 93.6 (n)
  • 95.96 (a)
KCNE3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcne3 35
  • 86.73 (n)
  • 93.2 (a)
Kcne3 16
Kcne3 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNE3 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE3 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcne3 35
  • 85.11 (n)
  • 92.23 (a)
chicken
(Gallus gallus)
Aves KCNE3 35
  • 69.15 (n)
  • 73.4 (a)
KCNE3 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia KCNE3 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kcne3 35
  • 65.99 (n)
  • 60.2 (a)
Species with no ortholog for KCNE3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 KCNE3 Gene

ENSEMBL:
Gene Tree for KCNE3 (if available)
TreeFam:
Gene Tree for KCNE3 (if available)

Paralogs for KCNE3 Gene

Selected SIMAP similar genes for KCNE3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KCNE3: view

No data available for Paralogs for KCNE3 Gene

Variants for KCNE3 Gene

Sequence variations from dbSNP and Humsavar for KCNE3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs7789 -- 74,455,275(-) GAAAC(A/C)TGCGT utr-variant-3-prime
rs9516 -- 74,455,233(+) CTGCT(A/G)TCAGA utr-variant-3-prime
rs17524 -- 74,460,071(+) CTGAC(C/T)ATGAA intron-variant
rs17532 -- 74,460,097(+) GCTCT(A/G)TGAAC intron-variant
rs593697 -- 74,458,831(+) tttgt(C/T)tccaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNE3 Gene

Variant ID Type Subtype PubMed ID
dgv397e1 CNV Complex 17122850
esv34979 CNV Gain 17911159
nsv825994 CNV Gain 20364138
nsv393 CNV Loss 18451855
nsv832209 CNV Gain 17160897
nsv897913 CNV Gain 21882294

Relevant External Links for KCNE3 Gene

HapMap Linkage Disequilibrium report
KCNE3
Human Gene Mutation Database (HGMD)
KCNE3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNE3 Gene

Disorders for KCNE3 Gene

(1) OMIM Diseases for KCNE3 Gene (604433)

UniProtKB/Swiss-Prot

KCNE3_HUMAN
  • Brugada syndrome 6 (BRGDA6) [MIM:613119]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:19122847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for KCNE3 Gene

Disease -log(P) Hits PubMed IDs
periodic paralysis 89.2 7

Relevant External Links for KCNE3

Genetic Association Database (GAD)
KCNE3
Human Genome Epidemiology (HuGE) Navigator
KCNE3
genes like me logo Genes that share disorders with KCNE3: view

Publications for KCNE3 Gene

  1. Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. (PMID: 14504341) Sternberg D. … Fontaine B. (Neurology 2003) 3 4 23 48
  2. Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. (PMID: 19306396) Ohno S. … Horie M. (Hum. Mutat. 2009) 3 4 23 48
  3. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. (PMID: 11207363) Abbott G.W. … Goldstein S.A.N. (Cell 2001) 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. No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients. (PMID: 15212652) Tang N.L. … Cockram C.S. (Clin. Endocrinol. (Oxf) 2004) 3 23 48

Products for KCNE3 Gene

Sources for KCNE3 Gene

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