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Kcnh2
Gene Detail
Symbol

Name
ID
Kcnh2
potassium voltage-gated channel, subfamily H (eag-related), member 2
MGI:1341722
Synonyms
ERG1, ether a go-go related, LQT, Lqt2, M-erg, merg1a, merg1b
Feature Type
protein coding gene
Genetic Map
Chromosome 5
10.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:24319589-24351604 bp, - strand
From VEGA annotation of GRCm38

  32016 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:201  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: potassium voltage-gated channel, subfamily H
Gene Tree: Kcnh2

Human
homologs
Human Homolog KCNH2, potassium voltage-gated channel, subfamily H (eag-related), member 2
NCBI Gene ID 3757
neXtProt AC  NX_Q12809
Human Synonyms  ERG1, ERG-1, HERG, H-ERG, HERG1, Kv11.1, LQT2, SQT1
Human Chr (Location)  7q36.1; chr7:150944956-150978329 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human KCNH2
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(3) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant mice which maintain expression of the A isoform and lack expression of the B isoform are predisposed to episodic sinus bradycardia. Mice with mutations causing defects in both isoforms are embryonic lethal with defects in cardiac development and function.
 
Human Diseases Modeled Using Mouse Kcnh2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Kcnh2 interacts with 133 markers (Mir10a, Mir10b, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (60 annotations)
Process cardiac muscle contraction, cellular response to drug, ...
Component cell surface, cytoplasm, ...
Function delayed rectifier potassium channel activity, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (112)    Tissues (64)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 85
RT-PCR 3
RNase protection 24
cDNA source data(33)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(38) Genomic(3) cDNA(33) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000024115 (Evidence)
Ensembl Gene ModelENSMUSG00000038319 (Evidence)
Entrez Gene16511 (Evidence)
UniGene6539
DFCITC1591221, TC1582314
DoTSDT.101371208, DT.110656995, DT.97332298
NIA Mouse Gene IndexU025990
Consensus CDS ProjectCCDS19116.1
International Mouse Knockout Project StatusKcnh2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024115 VEGA Gene Model | MGI Sequence Detail 32016 C57BL/6J ±  kb
transcript OTTMUST00000059001 VEGA | MGI Sequence Detail 4221 Not Applicable 
polypeptide OTTMUSP00000028662 VEGA | MGI Sequence Detail 1162 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(13) UniProt(7)
Polymorphisms
RFLP(1) : SNPs within 2kb(192 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000595 Cyclic nucleotide-binding domain
InterPro IPR018490 Cyclic nucleotide-binding-like
InterPro IPR005821 Ion transport domain
InterPro IPR001610 PAC motif
InterPro IPR000700 PAS-associated, C-terminal
InterPro IPR000014 PAS domain
InterPro IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERG
InterPro IPR003967 Potassium channel, voltage-dependent, ERG
InterPro IPR014710 RmlC-like jelly roll fold
Protein Ontology PR:000000791 voltage-gated potassium channel KCNH2
References
(Earliest) J:18517 Warmke JW, et al., A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci U S A. 1994 Apr 12;91(8):3438-42
(Latest) J:211437 de la Rosa AJ, et al., Functional suppression of Kcnq1 leads to early sodium channel remodelling and cardiac conduction system dysmorphogenesis. Cardiovasc Res. 2013 Jun 1;98(3):504-14
All references(55)
Disease annotation references (1)
Other
accession IDs
MGI:2140841, MGI:893581

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory