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Aliases for KCNE4 Gene

Aliases for KCNE4 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4 2 3 5
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 4 2 3
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 4 2 3
  • Minimum Potassium Ion Channel-Related Peptide 3 3 4
  • Potassium Channel Subunit Beta MiRP3 3 4
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 4 3
  • Potassium Voltage-Gated Channel Subfamily E Member 4 3
  • MINK-Related Peptide 3 3
  • MinK-Related Peptide 3 4
  • MIRP3 3

External Ids for KCNE4 Gene

Previous GeneCards Identifiers for KCNE4 Gene

  • GC02P221939
  • GC02P222637
  • GC02P223880
  • GC02P224119
  • GC02P223742
  • GC02P223625
  • GC02P215768

Summaries for KCNE4 Gene

Entrez Gene Summary for KCNE4 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 embryo and in adult uterus. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNE4 Gene

KCNE4 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4) is a Protein Coding gene. Diseases associated with KCNE4 include Hypokalemic Periodic Paralysis, Type 1 and Long Qt Syndrome 1. Among its related pathways are Cardiac conduction and Antiarrhythmic Pathway, Pharmacodynamics. GO annotations related to this gene include voltage-gated potassium channel activity.

UniProtKB/Swiss-Prot for KCNE4 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. May associate with KCNQ1/KVLTQ1 and inhibit potassium current.

Tocris Summary for KCNE4 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 KCNE4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNE4 Gene

Genomics for KCNE4 Gene

Regulatory Elements for KCNE4 Gene

Enhancers for KCNE4 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
GH02G223050 1.4 FANTOM5 ENCODE dbSUPER 8.7 +2.7 2703 7.6 PKNOX1 BMI1 YY1 TCF12 GATA2 SCRT2 FOS KLF13 ZNF592 NR2F2 LOC105373904 ACSL3 KCNE4 MRPL44 GC02M223058
GH02G223027 0.7 ENCODE 12.1 -24.4 -24422 1.1 PKNOX1 MAFG BACH1 NFIC JUND ZNF316 NFE2L1 NFE2 EMSY MAFK KCNE4 GC02P223042 LOC100419511
GH02G223099 0.7 ENCODE dbSUPER 11.1 +48.5 48466 1.5 NR3C1 ZBTB40 KCNE4 GC02P223102 GC02M223058
GH02G223026 0.6 ENCODE 11.3 -25.3 -25257 0.2 TFAP4 GATA3 FOXA2 CREB1 CUX1 FOXA1 KCNE4 GC02P223042 LOC100419511
GH02G223723 1.2 Ensembl ENCODE 5.1 +674.1 674075 4.2 PKNOX1 ATF1 CREB3L1 SIN3A BRCA1 YY1 ZNF766 GATA2 FOS JUNB KCNE4 PIR50030 AP1S3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNE4 on UCSC Golden Path with GeneCards custom track

Promoters for KCNE4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000130894 1086 2201 CTCF ESRRA BMI1 YY1 GATA2 POLR2A HNF4G NFE2 NR2F6 EZH2

Genomic Location for KCNE4 Gene

Chromosome:
2
Start:
223,051,814 bp from pter
End:
223,198,399 bp from pter
Size:
146,586 bases
Orientation:
Plus strand

Genomic View for KCNE4 Gene

Genes around KCNE4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNE4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNE4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE4 Gene

Proteins for KCNE4 Gene

  • Protein details for KCNE4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWG9-KCNE4_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily E member 4
    Protein Accession:
    Q8WWG9
    Secondary Accessions:
    • B7Z275
    • Q53SM4
    • Q96CC4

    Protein attributes for KCNE4 Gene

    Size:
    221 amino acids
    Molecular mass:
    23806 Da
    Quaternary structure:
    • Interacts with KCNQ1; impairs KCNQ1 localization in lipid rafts and inhibits voltage-gated potassium channel activity.
    SequenceCaution:
    • Sequence=AAH14429.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAL49979.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for KCNE4 Gene

Post-translational modifications for KCNE4 Gene

  • Glycosylation at posLast=99
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNE4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNE4 Gene

Domains & Families for KCNE4 Gene

Protein Domains for KCNE4 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWG9

UniProtKB/Swiss-Prot:

KCNE4_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 KCNE4: view

Function for KCNE4 Gene

Molecular function for KCNE4 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. May associate with KCNQ1/KVLTQ1 and inhibit potassium current.

Gene Ontology (GO) - Molecular Function for KCNE4 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 19687231
GO:0044325 ion channel binding IPI 19687231
genes like me logo Genes that share ontologies with KCNE4: view
genes like me logo Genes that share phenotypes with KCNE4: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNE4 Gene

Localization for KCNE4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE4 Gene

Membrane; Single-pass membrane protein.

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 KCNE4 gene
Compartment Confidence
plasma membrane 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNE4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with KCNE4: view

Pathways & Interactions for KCNE4 Gene

genes like me logo Genes that share pathways with KCNE4: view

Pathways by source for KCNE4 Gene

Gene Ontology (GO) - Biological Process for KCNE4 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:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNE4: view

No data available for SIGNOR curated interactions for KCNE4 Gene

Drugs & Compounds for KCNE4 Gene

(4) Drugs for KCNE4 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 69
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
XE 991 dihydrochloride Pharma Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 0

(1) Additional Compounds for KCNE4 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNE4 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 KCNE4: view

Transcripts for KCNE4 Gene

mRNA/cDNA for KCNE4 Gene

Unigene Clusters for KCNE4 Gene

Potassium voltage-gated channel, Isk-related family, member 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNE4 Gene

No ASD Table

Relevant External Links for KCNE4 Gene

GeneLoc Exon Structure for
KCNE4
ECgene alternative splicing isoforms for
KCNE4

Expression for KCNE4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNE4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNE4 Gene

This gene is overexpressed in Artery - Tibial (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of KCNE4 Gene:

KCNE4

SOURCE GeneReport for Unigene cluster for KCNE4 Gene:

Hs.348522

mRNA Expression by UniProt/SwissProt for KCNE4 Gene:

Q8WWG9-KCNE4_HUMAN
Tissue specificity: Predominantly expressed in embryo and adult uterus. Low expression found in kidney, small intestine, lung and heart.

Evidence on tissue expression from TISSUES for KCNE4 Gene

  • Heart(4.3)
  • Nervous system(4.2)
  • Kidney(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with KCNE4: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNE4 Gene

Orthologs for KCNE4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNE4 34 35
  • 99.1 (n)
cow
(Bos Taurus)
Mammalia KCNE4 34 35
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Kcne4 34
  • 87.25 (n)
dog
(Canis familiaris)
Mammalia KCNE4 34 35
  • 87.18 (n)
mouse
(Mus musculus)
Mammalia Kcne4 34 16 35
  • 86.67 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNE4 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE4 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNE4 34 35
  • 72.6 (n)
lizard
(Anolis carolinensis)
Reptilia KCNE4 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcne4 34
  • 55.63 (n)
zebrafish
(Danio rerio)
Actinopterygii kcne4 34 35
  • 56.62 (n)
Species where no ortholog for KCNE4 was found in the sources mined by GeneCards:
  • 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)

Evolution for KCNE4 Gene

ENSEMBL:
Gene Tree for KCNE4 (if available)
TreeFam:
Gene Tree for KCNE4 (if available)

Paralogs for KCNE4 Gene

(1) SIMAP similar genes for KCNE4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCNE4: view

No data available for Paralogs for KCNE4 Gene

Variants for KCNE4 Gene

Sequence variations from dbSNP and Humsavar for KCNE4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000635482 -- 223,050,156(+) ATCCA(G/T)GCAGG upstream-variant-2KB
rs1000677361 -- 223,055,934(+) GTTGC(A/T)CCAAG downstream-variant-500B
rs1001869033 -- 223,055,892(+) TGGAC(A/T)TTGAA downstream-variant-500B
rs1002253333 -- 223,054,124(+) GATCT(C/T)TCTAG utr-variant-3-prime
rs1002387602 -- 223,055,834(+) AAGCT(G/T)CAGAT downstream-variant-500B

Variation tolerance for KCNE4 Gene

Residual Variation Intolerance Score: 47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNE4 Gene

Human Gene Mutation Database (HGMD)
KCNE4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNE4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KCNE4 Gene

Disorders for KCNE4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCNE4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypokalemic periodic paralysis, type 1
  • familial periodic paralysis
long qt syndrome 1
  • long qt syndrome 1, acquired
- elite association - COSMIC cancer census association via MalaCards
Search KCNE4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNE4

Genetic Association Database (GAD)
KCNE4
Human Genome Epidemiology (HuGE) Navigator
KCNE4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNE4
genes like me logo Genes that share disorders with KCNE4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNE4 Gene

Publications for KCNE4 Gene

  1. Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits. (PMID: 19687231) Vanoye C.G. … George A.L. (J. Gen. Physiol. 2009) 3 4 22 64
  2. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka D.C. … Mohlke K.L. (Obesity (Silver Spring) 2011) 3 46 64
  3. Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting. (PMID: 20533308) Roura-Ferrer M. … Felipe A. (J. Cell. Physiol. 2010) 3 4 64
  4. KCNE4 suppresses Kv1.3 currents by modulating trafficking, surface expression and channel gating. (PMID: 19773357) SolAc L. … Felipe A. (J. Cell. Sci. 2009) 3 22 64
  5. Germline genomic variants associated with childhood acute lymphoblastic leukemia. (PMID: 19684603) Trevino L.R. … Relling M.V. (Nat. Genet. 2009) 3 46 64

Products for KCNE4 Gene

Sources for KCNE4 Gene

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