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Aliases for KCNE3 Gene

Aliases for KCNE3 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3 2 3
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 3 2 3 5
  • 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
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 3
  • Voltage-Gated K+ Channel Subunit MIRP2 3
  • HOKPP 3
  • MiRP2 3
  • HYPP 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 Voltage-Gated Channel Subfamily E Regulatory Subunit 3) is a Protein Coding gene. Diseases associated with KCNE3 include brugada syndrome 6 and hyperkalemic periodic paralysis, type 2. Among its related pathways are Protein digestion and absorption and Antiarrhythmic Pathway, Pharmacodynamics. 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. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:12954870). 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 that produces a current with nearly instantaneous activation with a linear current-voltage relationship.

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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

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

Enhancers for KCNE3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNE3 on UCSC Golden Path with GeneCards custom track

Promoters for KCNE3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNE3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNE3 Gene

Chromosome:
11
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

Genes around KCNE3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNE3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for KCNE3 Gene

    Size:
    103 amino acids
    Molecular mass:
    11710 Da
    Quaternary structure:
    • Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNC4/Kv3.4 (PubMed:11207363). Interacts with KCNQ1; produces a current with nearly instantaneous activation with a linear current-voltage relationship and alters membrane raft localization (By similarity) (PubMed:20533308).

neXtProt entry for KCNE3 Gene

Proteomics data for KCNE3 Gene at MOPED

Post-translational modifications for KCNE3 Gene

  • Glycosylation at Asn 5, Asn 22, and Asn 41
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNE3 Gene

No data available for DME Specific Peptides for KCNE3 Gene

Domains & Families for KCNE3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6H6

UniProtKB/Swiss-Prot:

KCNE3_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 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. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:12954870). 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 that produces a current with nearly instantaneous activation with a linear current-voltage relationship.
genes like me logo Genes that share phenotypes with KCNE3: view

Human Phenotype Ontology for KCNE3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNE3 Gene

MGI Knock Outs for KCNE3:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNE3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KCNE3 Gene

Localization for KCNE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE3 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasm. Perikaryon. Cell projection, dendrite. Membrane raft. Note=Colocalizes with KCNB1 at high-density somatodendritic clusters on the surface of hippocampal neurons. {ECO:0000269 PubMed:12954870}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNE3 Gene COMPARTMENTS Subcellular localization image for KCNE3 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for KCNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12954870
GO:0005886 colocalizes_with plasma membrane IPI 10646604
GO:0008076 colocalizes_with voltage-gated potassium channel complex IDA 12954870
GO:0030425 dendrite IDA 12954870
GO:0032809 neuronal cell body membrane IDA 12954870
genes like me logo Genes that share ontologies with KCNE3: view

Pathways & Interactions for KCNE3 Gene

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

Pathways by source for KCNE3 Gene

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

Gene Ontology (GO) - Biological Process for KCNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043266 regulation of potassium ion transport IEA --
GO:1901387 positive regulation of voltage-gated calcium channel activity IEA --
genes like me logo Genes that share ontologies with KCNE3: view

No data available for SIGNOR curated interactions for KCNE3 Gene

Drugs & Compounds for KCNE3 Gene

(3) Drugs for KCNE3 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Experimental Pharma 0
cyclic amp Experimental Pharma 0
Flupirtine maleate Pharma KV7 channel activator 0

(5) Additional Compounds for KCNE3 Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNE3 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
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 (x15.3).

Protein differential expression in normal tissues from HIPED for KCNE3 Gene

This gene is overexpressed in Testis (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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: Expressed in hippocampal neurons (at protein level) (PubMed:12954870). Widely expressed with highest levels in kidney and moderate levels in small intestine.
genes like me logo Genes that share expression patterns with KCNE3: view

Protein tissue co-expression partners for KCNE3 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNE3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE3 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia KCNE3 35
  • 99.68 (n)
  • 100 (a)
KCNE3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcne3 35
  • 85.11 (n)
  • 92.23 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNE3 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE3 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNE3 35
  • 69.15 (n)
  • 73.4 (a)
KCNE3 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcne3 35
  • 65.99 (n)
  • 60.2 (a)
African clawed frog
(Xenopus laevis)
Amphibia KCNE3 35
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

(2) 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
rs17215437 - 74,457,316(-) CTCCC(A/G)CAAAG reference, missense
rs200856070 - 74,457,554(+) ATTGG(C/T)AGTCT reference, missense
rs34604640 - 74,457,448(+) TGTCT(C/G)GCCCC reference, missense
rs121908441 - 74,457,268(-) GAACC(A/G)TGTGT reference, missense
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

Variation tolerance for KCNE3 Gene

Residual Variation Intolerance Score: 52.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.97% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(15) MalaCards diseases for KCNE3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome 6
  • brgda6
hyperkalemic periodic paralysis, type 2
  • hyperkalemic periodic paralysis
hypokalemic periodic paralysis, type 2
  • hypokalemic periodic paralysis type 2
paramyotonia congenita
  • pyruvate carboxylase deficiency disease
myotonia congenita, atypical, acetazolamide-responsive
  • hyperkalemic periodic paralysis
- elite association - COSMIC cancer census association via MalaCards
Search KCNE3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNE3

Genetic Association Database (GAD)
KCNE3
Human Genome Epidemiology (HuGE) Navigator
KCNE3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNE3
genes like me logo Genes that share disorders with KCNE3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNE3 Gene

Publications for KCNE3 Gene

  1. 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 67
  2. KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. (PMID: 18209471) Lundby A. … Schmitt N. (Cell. Physiol. Biochem. 2008) 3 23
  3. Up-regulation and increased activity of KV3.4 channels and their accessory subunit MinK-related peptide 2 induced by amyloid peptide are involved in apoptotic neuronal death. (PMID: 17495071) Pannaccione A. … Annunziato L. (Mol. Pharmacol. 2007) 3 23
  4. Interaction of KCNE subunits with the KCNQ1 K+ channel pore. (PMID: 16308347) Panaghie G. … Abbott G.W. (J. Physiol. (Lond.) 2006) 3 23
  5. Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. (PMID: 16449802) Abbott G.W. … Goldstein S.A. (FASEB J. 2006) 3 23

Products for KCNE3 Gene

Sources for KCNE3 Gene

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