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, HERG, HERG1, Kv11.1, LQT2, SQT1
Human Chr (Location)		7q36.1; chr7:150642044-150675402 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human KCNH2

Alleles and phenotypes

All alleles(7) : Targeted(4) Gene trapped(3)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (34 annotations)

Process	ion transport, phosphorelay signal transduction system, ...
Component	cytoplasm, integral to membrane, ...
Function	inward rectifier potassium channel activity, ion channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (9 records)
Data Summary: Results (112)    Tissues (63)    Images (20)
Theiler Stages: 11, 13, 15, 19, 21, 25, 28

Assay Type	Results
RNA in situ	85
RT-PCR	3
RNase protection	24

cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(38) Genomic(3) cDNA(33) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000024115 (Evidence)
Ensembl Gene Model	ENSMUSG00000038319 (Evidence)
Entrez Gene	16511 (Evidence)
UniGene	6539
DFCI	TC1582314, TC1591221
DoTS	DT.101371208, DT.97332298
NIA Mouse Gene Index	U025990
Consensus CDS Project	CCDS19116.1
International Mouse Knockout Project Status	Kcnh2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024115	VEGA Gene Model | MGI Sequence Detail	32016	C57BL/6J
transcript	OTTMUST00000059001	VEGA | MGI Sequence Detail	4221	Not Applicable
polypeptide	OTTMUSP00000028662	VEGA | MGI Sequence Detail	1162	Not Applicable

All sequences(37) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(168 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:186629 Huang X, et al., Voltage-gated potassium channel EAG2 controls mitotic entry and tumor growth in medulloblastoma via regulating cell volume dynamics. Genes Dev. 2012 Aug 15;26(16):1780-96
All references(53)

Other accession IDs

MGI:2140841, MGI:893581