ENSG00000055118


Homo sapiens

Features
Gene ID: ENSG00000055118
  
Biological name :KCNH2
  
Synonyms : KCNH2 / potassium voltage-gated channel subfamily H member 2 / Q12809
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q36.1
Gene start: 150944961
Gene end: 150978315
  
Corresponding Affymetrix probe sets: 205262_at (Human Genome U133 Plus 2.0 Array)   210036_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000328531
Ensembl peptide - ENSP00000387657
Ensembl peptide - ENSP00000262186
NCBI entrez gene - 3757     See in Manteia.
OMIM - 152427
RefSeq - XM_017012196
RefSeq - NM_000238
RefSeq - NM_172056
RefSeq - NM_172057
RefSeq - XM_011516185
RefSeq - XM_011516186
RefSeq - XM_017012195
RefSeq Peptide - NP_742054
RefSeq Peptide - NP_000229
RefSeq Peptide - NP_742053
swissprot - A0A090N7X5
swissprot - Q86U57
swissprot - A0A090N8Q0
swissprot - Q12809
Ensembl - ENSG00000055118
  
Related genetic diseases (OMIM): 609620 - Short QT syndrome 1, 609620
  613688 - Long QT syndrome 2, 613688
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
 CABZ01076968.1ENSDARG00000106473Danio rerio
 kcnh2aENSDARG00000029881Danio rerio
 KCNH2ENSGALG00000042836Gallus gallus
 Kcnh2ENSMUSG00000038319Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNH7 / Q9NS40 / potassium voltage-gated channel subfamily H member 7ENSG0000018461160
KCNH6 / Q9H252 / potassium voltage-gated channel subfamily H member 6ENSG0000017382655
KCNH8 / Q96L42 / potassium voltage-gated channel subfamily H member 8ENSG0000018396032
KCNH4 / Q9UQ05 / potassium voltage-gated channel subfamily H member 4ENSG0000008955832
KCNH3 / Q9ULD8 / potassium voltage-gated channel subfamily H member 3ENSG0000013551929
KCNH5 / Q8NCM2 / potassium voltage-gated channel subfamily H member 5ENSG0000014001528
KCNH1 / O95259 / potassium voltage-gated channel subfamily H member 1ENSG0000014347328
AL590132.1ENSG0000028429916
AC092017.3ENSG000002839522


Protein motifs (from Interpro)
Interpro ID Name
 IPR000014  PAS domain
 IPR000595  Cyclic nucleotide-binding domain
 IPR000700  PAS-associated, C-terminal
 IPR001610  PAC motif
 IPR003938  Potassium channel, voltage-dependent, EAG/ELK/ERG
 IPR003967  Potassium channel, voltage-dependent, ERG
 IPR005821  Ion transport domain
 IPR014710  RmlC-like jelly roll fold
 IPR018490  Cyclic nucleotide-binding-like
 IPR035965  PAS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000160 phosphorelay signal transduction system IEA
 biological_processGO:0003064 regulation of heart rate by hormone TAS
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035690 cellular response to drug IDA
 biological_processGO:0042391 regulation of membrane potential IDA
 biological_processGO:0055075 potassium ion homeostasis IDA
 biological_processGO:0055085 transmembrane transport IEA
 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:0061337 cardiac conduction TAS
 biological_processGO:0071435 potassium ion export IDA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IMP
 biological_processGO:0086009 membrane repolarization IMP
 biological_processGO:0086010 membrane depolarization during action potential IDA
 biological_processGO:0086011 membrane repolarization during action potential IDA
 biological_processGO:0086013 membrane repolarization during cardiac muscle cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0097623 potassium ion export across plasma membrane IGI
 biological_processGO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential 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:1902303 negative regulation of potassium ion export IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane IMP
 cellular_componentGO:0008076 voltage-gated potassium channel complex IMP
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IMP
 cellular_componentGO:1902937 inward rectifier potassium channel complex IMP
 molecular_functionGO:0000155 phosphorelay sensor kinase activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005242 inward rectifier potassium channel activity IDA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IEA
 molecular_functionGO:0005251 delayed rectifier potassium channel activity IGI
 molecular_functionGO:0005267 potassium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0055131 C3HC4-type RING finger domain binding IPI
 molecular_functionGO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IC
 molecular_functionGO:0097110 scaffold protein binding IPI
 molecular_functionGO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP


Pathways (from Reactome)
Pathway description
Voltage gated Potassium channels
Phase 3 - rapid repolarisation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001645 Sudden cardiac death 
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001662 Bradycardia 
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 HP:0001663 Ventricular fibrillation 
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 HP:0001664 Torsade de pointes 
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 HP:0001678 Atrioventricular block 
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 HP:0001695 Cardiac arrest 
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 HP:0001962 Palpitations 
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 HP:0005110 Atrial fibrillation 
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 HP:0012232 Shortened QT interval "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000159197 KCNE2 / Q9Y6J6 / potassium voltage-gated channel subfamily E regulatory subunit 2  / complex
 ENSG00000180509 KCNE1 / P15382 / potassium voltage-gated channel subfamily E regulatory subunit 1  / complex






 

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