This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with i... See more...

Aliases for KCNE5 Gene

Aliases for KCNE5 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5 2 3 5
  • Potassium Voltage-Gated Channel Subfamily E Regulatory Beta Subunit 5 3 4
  • 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
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 5 2
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 5 3
  • AMMECR2 Protein 3
  • KCNE1-Like 3
  • AMMECR2 4
  • KCNE5 5

External Ids for KCNE5 Gene

Previous HGNC Symbols for KCNE5 Gene

  • KCNE1L

Summaries for KCNE5 Gene

Entrez Gene Summary for KCNE5 Gene

  • This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]

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 Amme Complex and Brugada Syndrome. Among its related pathways are Cardiac conduction and Antiarrhythmic Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include ion channel binding and potassium channel regulator activity. An important paralog of this gene is KCNE3.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNE5 Gene

Genomics for KCNE5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNE5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ109623 Promoter/Enhancer 1 Ensembl ENCODE CraniofacialAtlas 257.9 +0.5 507 1.9 POLR2A TAF1 KCNE5 TMEM164 HSALNG0139494 lnc-ACSL4-1 NXT2 ACSL4
GH0XJ109624 Enhancer 0.2 Ensembl 250.7 +1.9 1871 0.2 KCNE5 HSALNG0139494 NXT2
GH0XJ109536 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.4 +88.0 87963 2.4 BCLAF1 ZNF207 NCOR1 ZNF600 SIX5 ZNF580 POLR2A CEBPA NFIC YY1 NXT2 KCNE5 AMMECR1 ACSL4 HSALNG0139491
GH0XJ109475 Enhancer 0.5 ENCODE 12.2 +149.9 149875 0.1 CTCF RAD21 TFAP4 L3MBTL2 GATA2 TRIM28 MGA KCNE5 GUCY2F HSALNG0139488 IRS4
GH0XJ109535 Promoter 0.4 EPDnew 11.9 +89.4 89367 0.1 GABPA NXT2 KCNE5 ACSL4 HSALNG0139491
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNE5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNE5

Genomic Locations for KCNE5 Gene

Latest Assembly
chrX:109,623,700-109,625,172
(GRCh38/hg38)
Size:
1,473 bases
Orientation:
Minus strand

Previous Assembly
chrX:108,866,929-108,868,401
(GRCh37/hg19 by Entrez Gene)
Size:
1,473 bases
Orientation:
Minus strand

chrX:108,866,929-108,868,393
(GRCh37/hg19 by Ensembl)
Size:
1,465 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

Post-translational modifications for KCNE5 Gene

  • Glycosylation at Asn2 and Asn25
  • 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

Gene Families for KCNE5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for KCNE5 Gene

InterPro:

Suggested Antigen Peptide Sequences for KCNE5 Gene

GenScript: Design optimal peptide antigens:
  • AMME syndrome candidate gene 2 protein (KCE1L_HUMAN)
  • Cardiac voltage-gated potassium channel accessory subunit 5 (Q2N1H9_HUMAN)
  • cDNA, FLJ95832, Homo sapiens potassium voltage-gated channel, Isk-related family,member 1-like (KCNE1L), mRNA (Q5JWV7_HUMAN)

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.

Phenotypes From GWAS Catalog for KCNE5 Gene

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
GO:0005251 contributes_to delayed rectifier potassium channel activity IBA 21873635
GO:0005515 protein binding IPI 20533308
GO:0015459 potassium channel regulator activity IDA 12324418
GO:0044325 ion channel binding IPI 12324418
genes like me logo Genes that share ontologies with KCNE5: view
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 Models for research

  • Taconic Biosciences Mouse Models for KCNE5

miRNA for KCNE5 Gene

miRTarBase miRNAs that target KCNE5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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.

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 KCNE5 gene
Compartment Confidence
plasma membrane 5
cytosol 3
mitochondrion 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20533308
GO:0008076 voltage-gated potassium channel complex IDA 12324418
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNE5: view

Pathways & Interactions for KCNE5 Gene

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

Pathways by source for KCNE5 Gene

Gene Ontology (GO) - Biological Process for KCNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
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 IBA,IMP 21493962
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

(3) Drugs for KCNE5 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Miconazole Approved, Investigational, Vet_approved Pharma Target, inhibitor 3164
Promethazine Approved, Investigational Pharma Target, inducer 494
genes like me logo Genes that share compounds with KCNE5: view

Transcripts for KCNE5 Gene

mRNA/cDNA for KCNE5 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE5

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

No ASD Table

Relevant External Links for KCNE5 Gene

GeneLoc Exon Structure for
KCNE5

Expression for KCNE5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNE5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNE5

mRNA Expression by UniProt/SwissProt for KCNE5 Gene:

Q9UJ90-KCNE5_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.

Evidence on tissue expression from TISSUES for KCNE5 Gene

  • Nervous system(4.4)
  • Heart(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNE5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with KCNE5: view

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
Chimpanzee
(Pan troglodytes)
Mammalia KCNE1L 29 30
  • 99.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNE1L 29 30
  • 88.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNE1L 29 30
  • 86.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcne1l 29 16 30
  • 82.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcne1l 29
  • 80.28 (n)
Lizard
(Anolis carolinensis)
Reptilia KCNE1L 30
  • 56 (a)
OneToOne
Species where no ortholog for KCNE5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNE5: view image
Alliance of Genome Resources:
Additional Orthologs for KCNE5

Paralogs for KCNE5 Gene

Paralogs for KCNE5 Gene

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

  • Q2N1H9_HUMAN
  • Q5JWV7_HUMAN
genes like me logo Genes that share paralogs with KCNE5: view

Variants for KCNE5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNE5 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1011257 Uncertain Significance: Brugada syndrome 109,624,891(-) C/G
NM_012282.4(KCNE5):c.130G>C (p.Asp44His)
MISSENSE
942887 Uncertain Significance: Brugada syndrome 109,624,744(-) C/A
NM_012282.4(KCNE5):c.277G>T (p.Glu93Ter)
NONSENSE
961237 Uncertain Significance: Brugada syndrome 109,624,966(-) C/G
NM_012282.4(KCNE5):c.55G>C (p.Glu19Gln)
MISSENSE
969418 Uncertain Significance: Brugada syndrome 109,624,741(-) G/A
NM_012282.4(KCNE5):c.280C>T (p.Pro94Ser)
MISSENSE
rs1420621771 Uncertain Significance: Brugada syndrome 109,624,758(-) A/T
NM_012282.4(KCNE5):c.263T>A (p.Val88Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNE5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCNE5 Gene

Variant ID Type Subtype PubMed ID
esv2758883 CNV loss 17122850
nsv7033 CNV insertion 18451855

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)

Additional Variant Information for KCNE5 Gene

Human Gene Mutation Database (HGMD)
KCNE5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNE5
Leiden Open Variation Database (LOVD)
KCNE5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNE5 Gene

Disorders for KCNE5 Gene

MalaCards: The human disease database

(18) MalaCards diseases for KCNE5 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
amme complex
  • alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
brugada syndrome
  • bangungut
alport syndrome
  • hereditary nephritis
mental retardation, x-linked, syndromic, martin-probst type
  • mrxsmp
familial atrial fibrillation
  • atfb
- 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]: An 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.

Additional Disease Information for 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 SP (Biophysical journal 2002) 2 3 4 22
  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 4 22
  3. KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. (PMID: 21493962) Ohno S … Horie M (Circulation. Arrhythmia and electrophysiology 2011) 3 4 72
  4. Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting. (PMID: 20533308) Roura-Ferrer M … Felipe A (Journal of cellular physiology 2010) 3 4
  5. Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation. (PMID: 18313602) Ravn LS … Antzelevitch C (Heart rhythm 2008) 3 4

Products for KCNE5 Gene

Sources for KCNE5 Gene