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Aliases for KCNE3 Gene

Aliases for KCNE3 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3 2 3 5
  • 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
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 3
  • Potassium Voltage-Gated Channel Subfamily E Member 3 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 Brugada Syndrome. Among its related pathways are Collagen chain trimerization and Phase 0 - rapid depolarisation. 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

Additional gene information for KCNE3 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H074459 1.4 FANTOM5 ENCODE 23.2 +5.9 5934 4 HDGF PKNOX1 ATF1 MLX ARID4B YY1 TCF12 ZNF766 GATA2 ELK1 KCNE3 ENSG00000254974 RNF169 SPCS2 C2CD3 ENSG00000254928
GH11H074492 1.1 ENCODE 28.2 -25.7 -25652 2 PKNOX1 ARID4B SIN3A DMAP1 ZNF207 FOS DEK SP3 SP5 MXD4 KCNE3 ENSG00000254974 C2CD3 ENSG00000254928 LIPT2 UCP3 LOC100287896 ENSG00000254837
GH11H074546 1 FANTOM5 ENCODE 30.4 -79.2 -79168 1 PKNOX1 ESRRA RFX1 NFIB MNT ELF1 RFX5 FOXA1 ZNF217 CTBP1 KCNE3 ENSG00000254974 ENSG00000254928 ENSG00000206913 UCP2 LOC105369386 POLD3
GH11H074464 1.1 FANTOM5 ENCODE 21.1 +1.3 1256 3 HDGF FOXA2 EGR1 FOS CREM MIER2 HDAC8 ZNF592 ZNF217 CEBPA KCNE3 POLD3 ENSG00000254928
GH11H074559 0.8 ENCODE 25.5 -92.1 -92064 1 ELF3 SOX13 DRAP1 SAP130 MLX JUN ZNF644 THRB RARA NR2F6 KCNE3 ENSG00000254928 RANP3 ENSG00000206913 LOC105369386 POLD3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000041999 329 801 HDGF HDAC8 ZNF592 CBX1 EGR1 IKZF1 ZFX MGA EZH2

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).

    Three dimensional structures from OCA and Proteopedia for KCNE3 Gene

neXtProt entry for KCNE3 Gene

Post-translational modifications for KCNE3 Gene

  • Glycosylation at isoforms=5, isoforms=22, and posLast=4141
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNE3 Gene

Domains & Families for KCNE3 Gene

Gene Families for KCNE3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.

Phenotypes From GWAS Catalog for KCNE3 Gene

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:0005267 potassium channel activity IEA --
GO:0005515 protein binding IPI 20533308
GO:0015459 potassium channel regulator activity IDA 12954870
GO:0044325 ion channel binding IEA --
genes like me logo Genes that share ontologies with KCNE3: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KCNE3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
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 KCNE3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KCNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 12954870
GO:0005886 colocalizes_with plasma membrane IPI 10646604
GO:0008076 colocalizes_with voltage-gated potassium channel complex IDA 12954870
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNE3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNE3 Gene

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

Interacting Proteins for KCNE3 Gene

Gene Ontology (GO) - Biological Process for KCNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0043266 regulation of potassium ion transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved Pharma 0
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 71
cyclic amp Experimental Pharma 0
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0
Linopirdine dihydrochloride Pharma KV7 (KCNQ) channel blocker 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
HMR 1556
223749-46-0

(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
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KCNE3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for KCNE3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNE3 Gene:

KCNE3

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.

Evidence on tissue expression from TISSUES for KCNE3 Gene

  • Blood(4)
  • Intestine(2.1)
  • Stomach(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNE3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
  • pancreas
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with KCNE3: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia KCNE3 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia KCNE3 33 34
  • 93.6 (n)
cow
(Bos Taurus)
Mammalia KCNE3 33 34
  • 90.24 (n)
mouse
(Mus musculus)
Mammalia Kcne3 33 16 34
  • 86.73 (n)
rat
(Rattus norvegicus)
Mammalia Kcne3 33
  • 85.11 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNE3 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE3 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNE3 33 34
  • 69.15 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia kcne3 33
  • 65.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia KCNE3 33
Species where no ortholog for KCNE3 was found in the sources mined by GeneCards:
  • 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
rs121908441 Pathogenic 74,457,268(-) GAACC(A/G)TGTGT reference, missense
rs11236111 Likely benign 74,457,172(+) CCTGA(C/T)GCAGT utr-variant-3-prime
rs118022255 Likely benign 74,467,446(+) CACGG(A/C/T)GCCCT intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs11822977 Likely benign 74,457,235(+) CCACC(A/G)TCCCA utr-variant-3-prime
rs12271177 Likely benign 74,456,585(+) TTTTC(A/G)TAATG downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv209e214 CNV gain 21293372
esv2759837 CNV gain 17122850
esv34979 CNV gain 17911159
esv3626840 CNV gain 21293372
nsv1041154 CNV loss 25217958
nsv393 CNV deletion 18451855
nsv555443 CNV loss 21841781
nsv825994 CNV gain 20364138
nsv832209 CNV gain 17160897

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

Human Gene Mutation Database (HGMD)
KCNE3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNE3

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

Disorders for KCNE3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
brugada syndrome 6
  • brgda6
brugada syndrome
  • bangungut
hypokalemic periodic paralysis, type 1
  • familial periodic paralysis
periodic paralyses
familial periodic paralysis
  • genetic 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 (Human mutation 2009) 3 4 22 45 60
  2. 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 22 45 60
  3. No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients. (PMID: 15212652) Tang NL … Cockram CS (Clinical endocrinology 2004) 3 22 45 60
  4. Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. (PMID: 11874988) Abbott GW … Goldstein SA (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2002) 3 4 22 60
  5. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. (PMID: 11207363) Abbott GW … Goldstein SA (Cell 2001) 3 4 22 60

Products for KCNE3 Gene

Sources for KCNE3 Gene

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