Kcnq2
Gene Detail

Symbol Name ID

Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 MGI:1309503

Synonyms

KQT2, Nmf134

Feature Type

protein coding gene

Genetic Map

Chromosome 2

103.57 cM, cytoband H3-4
Detailed Genetic Map ± 1 cM


Mapping data(8)

Sequence Map

Chr2:181075579-181135291 bp, - strand From VEGA annotation of GRCm38   59713 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:26174  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: potassium voltage-gated channel, subfamily KQT
Gene Tree: Kcnq2

Human homologs

Human Homolog		KCNQ2, potassium voltage-gated channel, KQT-like subfamily, member 2
NCBI Gene ID		3785
neXtProt AC		NX_O43526
Human Synonyms		BFNC, BFNS1, EBN, EBN1, EIEE7, ENB1, HNSPC, KCNA11, KV7.2, KVEBN1
Human Chr (Location)		20q13.3; chr20:62037542-62103993 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human KCNQ2

Alleles and phenotypes

All alleles(14) : Targeted(7) Gene trapped(6) Chemically induced(1)
 

Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.

 
Human Diseases Modeled Using Mouse Kcnq2 (1)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (26 annotations)

Process	ion transport, membrane hyperpolarization, ...
Component	axon initial segment, integral to membrane, ...
Function	ankyrin binding, delayed rectifier potassium channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (86)    Tissues (47)   
Theiler Stages: 19, 25, 26, 28

Assay Type	Results
In situ reporter (knock in)	36
Northern blot	3
RT-PCR	47

cDNA source data(27)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(40) Genomic(8) cDNA(27) Primer pair(4) Other(1)
Microarray probesets(13)

Other database links

VEGA Gene Model	OTTMUSG00000016558 (Evidence)
Ensembl Gene Model	ENSMUSG00000016346 (Evidence)
Entrez Gene	16536 (Evidence)
DFCI	TC1579104, TC1580722, TC1595993, TC1596531, TC1596747, TC1604003, TC1618741, TC1625841, TC1682679, TC1692735
DoTS	DT.101145883, DT.101357587, DT.110746421, DT.110746438, DT.110746439, DT.110746452, DT.110746458, DT.523843, DT.527011, DT.87037845, DT.87040536, DT.87048659, DT.87048660, DT.87049021, DT.91429000, DT.94313963, DT.94397896, DT.97408555
NIA Mouse Gene Index	U023774
Consensus CDS Project	CCDS17193.1, CCDS17194.1, CCDS17195.1, CCDS17196.1, CCDS17197.1, CCDS17198.1, CCDS17199.1, CCDS17200.1, CCDS50845.1, CCDS50846.1, CCDS50847.1, CCDS50848.1
International Mouse Knockout Project Status	Kcnq2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016558	VEGA Gene Model | MGI Sequence Detail	59713	C57BL/6J
transcript	OTTMUST00000040028	VEGA | MGI Sequence Detail	8098	Not Applicable
polypeptide	OTTMUSP00000017858	VEGA | MGI Sequence Detail	870	Not Applicable

All sequences(183) RefSeq(24) UniProt(17)

Polymorphisms

PCR(1) : SNPs(393 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR020969	Ankyrin-G binding site
InterPro	IPR005821	Ion transport domain
InterPro	IPR003937	Potassium channel, voltage dependent, KCNQ
InterPro	IPR003947	Potassium channel, voltage dependent, KCNQ2
InterPro	IPR013821	Potassium channel, voltage dependent, KCNQ, C-terminal
InterPro	IPR003091	Voltage-dependent potassium channel
Protein Ontology	PR:000000729	voltage-gated potassium channel subunit KCNQ2

References

(Earliest) J:14288 Hayakawa JI, et al., Inheritance of juvenile visceral steatosis (jvs) found in C3H-H-2 mice. Mouse Genome. 1990;86:261
(Latest) J:193641 Nakano Y, et al., A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet. 2012;8(10):e1002966
All references(54)

Other accession IDs

MGI:2661794