ENSMUSG00000038319


Mus musculus

Features
Gene ID: ENSMUSG00000038319
  
Biological name :Kcnh2
  
Synonyms : Kcnh2 / potassium voltage-gated channel subfamily H member 2
  
Possible biological names infered from orthology : Q12809
  
Species: Mus musculus
  
Chr. number: 5
Strand: -1
Band: A3
Gene start: 24319589
Gene end: 24351604
  
Corresponding Affymetrix probe sets: 10528548 (MoGene1.0st)   1449544_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000047705
Ensembl peptide - ENSMUSP00000110750
NCBI entrez gene - 16511     See in Manteia.
MGI - MGI:1341722
RefSeq - XM_006535635
RefSeq - NM_001294162
RefSeq - NM_013569
RefSeq - XM_006535632
RefSeq - XM_006535633
RefSeq - XM_006535634
RefSeq Peptide - NP_001281091
RefSeq Peptide - NP_038597
swissprot - A0A0R4J1K0
swissprot - Q53Z09
Ensembl - ENSMUSG00000038319
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01076968.1ENSDARG00000106473Danio rerio
 kcnh2aENSDARG00000029881Danio rerio
 KCNH2ENSGALG00000042836Gallus gallus
 KCNH2ENSG00000055118Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Kcnh7 / Q9ER47 / Potassium voltage-gated channel subfamily H member 7 / Q9NS40*ENSMUSG0000005974259
Kcnh6 / potassium voltage-gated channel, subfamily H (eag-related), member 6 / Q9H252* / potassium voltage-gated channel subfamily H member 6*ENSMUSG0000000190153
Kcnh4 / potassium voltage-gated channel subfamily H member 4 / Q9UQ05*ENSMUSG0000003535531
Kcnh8 / potassium voltage-gated channel subfamily H member 8 / Q96L42*ENSMUSG0000003558031
Kcnh3 / Q9WVJ0 / Potassium voltage-gated channel subfamily H member 3 / Q9ULD8*ENSMUSG0000003757929
Kcnh5 / Q920E3 / Potassium voltage-gated channel subfamily H member 5 / Q8NCM2*ENSMUSG0000003440228
Kcnh1 / potassium voltage-gated channel subfamily H member 1 / O95259*ENSMUSG0000005824827


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: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 IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0055075 potassium ion homeostasis IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060048 cardiac muscle contraction IEA
 biological_processGO:0060306 regulation of membrane repolarization IEA
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IEA
 biological_processGO:0071435 potassium ion export IEA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IEA
 biological_processGO:0086009 membrane repolarization IEA
 biological_processGO:0086010 membrane depolarization during action potential IEA
 biological_processGO:0086011 membrane repolarization during action potential IEA
 biological_processGO:0086013 membrane repolarization during cardiac muscle cell action potential IEA
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IEA
 biological_processGO:0097623 potassium ion export across plasma membrane IEA
 biological_processGO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential IEA
 biological_processGO:1901379 regulation of potassium ion transmembrane transport IEA
 biological_processGO:1901380 negative regulation of potassium ion transmembrane transport IEA
 biological_processGO:1901381 positive regulation of potassium ion transmembrane transport IEA
 biological_processGO:1902303 negative regulation of potassium ion export IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0008076 voltage-gated potassium channel complex IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:1902937 inward rectifier potassium channel complex IEA
 molecular_functionGO:0000155 phosphorelay sensor kinase activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005242 inward rectifier potassium channel activity IEA
 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 IEA
 molecular_functionGO:0005267 potassium channel activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0055131 C3HC4-type RING finger domain binding IEA
 molecular_functionGO:0097110 scaffold protein binding IEA
 molecular_functionGO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0002128 abnormal blood circulation "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
Show

Allelic Composition: KitlSl-5R/Kitl+
Genetic Background: C3.Cg-KitlSl-5R

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0006337 abnormal first branchial arch morphology "anomaly in the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel s cartilage, trigeminal nerve, and maxillary artery" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0006341 small first branchial arch "reduced size of the first branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0010568 abnormal bulbus cordis morphology "any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0012510 abnormal aortic sac morphology "any structural abnormality of the dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates" [MGI:anna]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

 MP:0012511 dilated aortic sac "abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates" [MGI:anna]
Show

Allelic Composition: Csf3tm1Ard/Csf3tm1Ard,Junbtm3Wag/Junbtm3Wag,Tg(KRT5-cre)1Tak/0
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C3H * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000039639 Kcne1 / P23299 / Potassium voltage-gated channel subfamily E member 1 / KCNE1B* / P15382* / A0A087WTH5* / potassium voltage-gated channel subfamily E regulatory subunit 1* / potassium volt...  / complex
 ENSMUSG00000039672 Kcne2 / Mus musculus potassium voltage-gated channel, Isk-related subfamily, 2 (Kcne2), transcript variant 2, mRNA. / Q9Y6J6* / potassium voltage-gated channel subfamily E regulatory subunit 2*  / complex






 

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