ENSG00000176076


Homo sapiens

Features
Gene ID: ENSG00000176076
  
Biological name :KCNE5
  
Synonyms : KCNE5 / potassium voltage-gated channel subfamily E regulatory subunit 5 / Q9UJ90
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q23
Gene start: 109623700
Gene end: 109625172
  
Corresponding Affymetrix probe sets: 220010_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000361173
NCBI entrez gene - 23630     See in Manteia.
OMIM - 300328
RefSeq - NM_012282
RefSeq Peptide - NP_036414
swissprot - Q9UJ90
Ensembl - ENSG00000176076
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 KCNE5ENSGALG00000040890Gallus gallus
 Kcne1lENSMUSG00000090122Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000369  Potassium channel, voltage-dependent, beta subunit, KCNE


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0008016 regulation of heart contraction IMP
 biological_processGO:0060048 cardiac muscle contraction IMP
 biological_processGO:0060306 regulation of membrane repolarization IDA
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP
 biological_processGO:0060372 regulation of atrial cardiac muscle cell membrane repolarization IMP
 biological_processGO:0071435 potassium ion export IDA
 biological_processGO:0071805 potassium ion transmembrane transport IDA
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IMP
 biological_processGO:0086013 membrane repolarization during cardiac muscle cell action potential IEA
 biological_processGO:0086014 atrial cardiac muscle cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:1901379 regulation of potassium ion transmembrane transport IDA
 biological_processGO:1901380 negative regulation of potassium ion transmembrane transport IDA
 biological_processGO:1901381 positive regulation of potassium ion transmembrane transport IDA
 biological_processGO:2001257 regulation of cation channel activity IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0008076 voltage-gated potassium channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015459 potassium channel regulator activity IDA
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IMP


Pathways (from Reactome)
Pathway description
Phase 3 - rapid repolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
Show

 HP:0000093 Proteinuria 
Show

 HP:0000233 Thin vermillion border 
Show

 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
Show

 HP:0000365 Hearing loss 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
Show

 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show

 HP:0000494 Downward slanting palpebral fissures 
Show

 HP:0000545 Myopia 
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0001182 Tapered fingers 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
Show

 HP:0001595 Hair abnormality 
Show

 HP:0001643 Patent ductus arteriosus 
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 HP:0001646 Abnormality of the aortic valve "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators]
Show

 HP:0002907 Microscopic hematuria 
Show

 HP:0004445 Elliptocytosis 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0011069 Increased number of teeth "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." [HPO:ibailleulforestier]
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 HP:0012471 Thick vermilion border "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson]
Show

 HP:0100820 Glomerulopathy "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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