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Aliases for KCNE5 Gene

Aliases for KCNE5 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5 2 3
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 5 2 3 5
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 1-Like 2 3
  • Potassium Voltage-Gated Channel Subfamily E Member 1-Like Protein 3 4
  • AMME Syndrome Candidate Gene 2 Protein 3 4
  • Potassium Channel Subunit Beta MiRP4 3 4
  • KCNE1L 3 4
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 5 3
  • AMMECR2 Protein 3
  • KCNE1-Like 3
  • AMMECR2 4

External Ids for KCNE5 Gene

Previous HGNC Symbols for KCNE5 Gene

  • KCNE1L

Summaries for KCNE5 Gene

Entrez Gene Summary for KCNE5 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 membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNE5 Gene

KCNE5 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5) is a Protein Coding gene. Diseases associated with KCNE5 include alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome and brugada syndrome. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Cardiac conduction. GO annotations related to this gene include ion channel binding and potassium channel regulator activity.

UniProtKB/Swiss-Prot for KCNE5 Gene

  • Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1.

Gene Wiki entry for KCNE5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNE5 Gene

Genomics for KCNE5 Gene

Regulatory Elements for KCNE5 Gene

Promoters for KCNE5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNE5 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNE5 Gene

Chromosome:
X
Start:
109,623,700 bp from pter
End:
109,625,172 bp from pter
Size:
1,473 bases
Orientation:
Minus strand

Genomic View for KCNE5 Gene

Genes around KCNE5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNE5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNE5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE5 Gene

Proteins for KCNE5 Gene

  • Protein details for KCNE5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJ90-KCNE5_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily E regulatory beta subunit 5
    Protein Accession:
    Q9UJ90
    Secondary Accessions:
    • Q5JWV7

    Protein attributes for KCNE5 Gene

    Size:
    142 amino acids
    Molecular mass:
    14993 Da
    Quaternary structure:
    • Interacts with KCNQ1; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization.

neXtProt entry for KCNE5 Gene

Proteomics data for KCNE5 Gene at MOPED

Post-translational modifications for KCNE5 Gene

  • Glycosylation at Asn 2 and Asn 25
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNE5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNE5 Gene

Domains & Families for KCNE5 Gene

Protein Domains for KCNE5 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UJ90

UniProtKB/Swiss-Prot:

KCNE5_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 KCNE5: view

Function for KCNE5 Gene

Molecular function for KCNE5 Gene

UniProtKB/Swiss-Prot Function:
Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1.

Gene Ontology (GO) - Molecular Function for KCNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 contributes_to voltage-gated potassium channel activity IDA 12324418
genes like me logo Genes that share ontologies with KCNE5: view

Phenotypes for KCNE5 Gene

genes like me logo Genes that share phenotypes with KCNE5: view

Human Phenotype Ontology for KCNE5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for KCNE5 Gene

miRTarBase miRNAs that target KCNE5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNE5 Gene

Localization for KCNE5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE5 Gene

Membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for KCNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20533308
genes like me logo Genes that share ontologies with KCNE5: view

No data available for Subcellular locations from COMPARTMENTS for KCNE5 Gene

Pathways & Interactions for KCNE5 Gene

genes like me logo Genes that share pathways with KCNE5: view

Pathways by source for KCNE5 Gene

Interacting Proteins for KCNE5 Gene

Gene Ontology (GO) - Biological Process for KCNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008016 regulation of heart contraction IMP 18313602
GO:0060048 cardiac muscle contraction IMP 18313602
GO:0060306 regulation of membrane repolarization IDA 21493962
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 21493962
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization IMP 18313602
genes like me logo Genes that share ontologies with KCNE5: view

No data available for SIGNOR curated interactions for KCNE5 Gene

Drugs & Compounds for KCNE5 Gene

No Compound Related Data Available

Transcripts for KCNE5 Gene

mRNA/cDNA for KCNE5 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KCNE5 Gene

No ASD Table

Relevant External Links for KCNE5 Gene

GeneLoc Exon Structure for
KCNE5
ECgene alternative splicing isoforms for
KCNE5

Expression for KCNE5 Gene

mRNA expression in normal human tissues for KCNE5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA Expression by UniProt/SwissProt for KCNE5 Gene

Q9UJ90-KCNE5_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.
genes like me logo Genes that share expression patterns with KCNE5: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNE5 Gene

Orthologs for KCNE5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNE1L 35
  • 88.03 (n)
  • 89.44 (a)
KCNE1L 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNE1L 35
  • 86.72 (n)
  • 88.62 (a)
KCNE1L 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcne1l 35
  • 82.39 (n)
  • 80.99 (a)
Kcne1l 16
Kcne1l 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNE1L 35
  • 99.3 (n)
  • 97.89 (a)
KCNE1L 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcne1l 35
  • 80.28 (n)
  • 79.58 (a)
lizard
(Anolis carolinensis)
Reptilia KCNE1L 36
  • 56 (a)
OneToOne
Species with no ortholog for KCNE5:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KCNE5 Gene

ENSEMBL:
Gene Tree for KCNE5 (if available)
TreeFam:
Gene Tree for KCNE5 (if available)

Paralogs for KCNE5 Gene

(2) SIMAP similar genes for KCNE5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNE5: view

No data available for Paralogs for KCNE5 Gene

Variants for KCNE5 Gene

Sequence variations from dbSNP and Humsavar for KCNE5 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs41312935 - 109,624,681(+) AGCCT(C/G)GGCGT reference, missense
rs17003955 - 109,624,924(+) ACGAG(A/G)GCCAG reference, missense
VAR_072679 -
rs199924386 - 109,624,780(+) GGTGT(A/G)GGCCA reference, missense
rs697829 -- 109,623,948(+) CATAC(A/G)GTTGG utr-variant-3-prime

Variation tolerance for KCNE5 Gene

Residual Variation Intolerance Score: 85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNE5 Gene

HapMap Linkage Disequilibrium report
KCNE5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KCNE5 Gene

Disorders for KCNE5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KCNE5 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
  • alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
brugada syndrome
  • sudden unexpected nocturnal death syndrome
familial atrial fibrillation
  • atrial fibrillation, familial, 1
- elite association - COSMIC cancer census association via MalaCards
Search KCNE5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNE5_HUMAN
  • Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. {ECO:0000269 PubMed:12011158}. Note=The gene represented in this entry may be involved in disease pathogenesis. {ECO:0000269 PubMed:12011158}.

Relevant External Links for KCNE5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNE5
genes like me logo Genes that share disorders with KCNE5: view

No data available for Genatlas for KCNE5 Gene

Publications for KCNE5 Gene

  1. KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current. (PMID: 12324418) Angelo K. … Olesen S.P. (Biophys. J. 2002) 2 3 4 23 67
  2. KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs. (PMID: 10493825) Piccini M. … Renieri A. (Genomics 1999) 2 3 23
  3. KCNE5 polymorphism rs697829 is associated with QT interval and survival in acute coronary syndromes patients. (PMID: 21985337) Palmer B.R. … Cameron V.A. (J. Cardiovasc. Electrophysiol. 2012) 3
  4. KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. (PMID: 21493962) Ohno S. … Horie M. (Circ Arrhythm Electrophysiol 2011) 3
  5. Novel expression and regulation of voltage-dependent potassium channels in placentas from women with preeclampsia. (PMID: 21730298) Mistry H.D. … Tribe R.M. (Hypertension 2011) 3

Products for KCNE5 Gene

Sources for KCNE5 Gene

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