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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
Chr2:181075579-181135300 bp, - strand
From VEGA annotation of GRCm38

  59722 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: KCNQ2
Protein SuperFamily: potassium voltage-gated channel, subfamily KQT
Gene Tree: Kcnq2

Human
homologs
KCNQ2, potassium channel, voltage gated KQT-like subfamily Q, member 2
Orthology source: HGNC, HomoloGene

IDs:
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; chr20:63400208-63472640 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human KCNQ2

Mutations,
alleles, and
phenotypes
All mutations/alleles(20) : Chemically induced (ENU)(1) Gene trapped(6) Spontaneous(1) Targeted(12)
Genomic Mutations involving Kcnq2 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Kcnq2 (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Kcnq2 interacts with 426 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process ion transport, membrane hyperpolarization, ...
Component axon initial segment, integral component of membrane, ...
Function ankyrin binding, delayed rectifier potassium channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (90)    Tissues (49)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
In situ reporter (knock in) 36
Northern blot 3
RT-PCR 51
cDNA source data(28)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: ZFIN kcnq2a    NEW 
Molecular
reagents
All nucleic(43) Genomic(8) cDNA(28) Primer pair(6) Other(1)
Microarray probesets(13)
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016558 VEGA Gene Model | MGI Sequence Detail 59722 C57BL/6J ±  kb
transcript OTTMUST00000040028 VEGA | MGI Sequence Detail 8209 Not Applicable 
polypeptide OTTMUSP00000017858 VEGA | MGI Sequence Detail 870 Not Applicable 

For the selected sequences
All sequences(206) RefSeq(42) UniProt(18)
Polymorphisms
PCR(1) : SNPs within 2kb(453 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020969 Ankyrin-G binding site
InterPro IPR005821 Ion transport domain
InterPro IPR003091 Potassium channel
InterPro IPR003937 Potassium channel, voltage dependent, KCNQ
InterPro IPR003947 Potassium channel, voltage dependent, KCNQ2
InterPro IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal
InterPro IPR028325 Voltage-gated 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:215353 King CH, et al., Kv7.2 regulates the function of peripheral sensory neurons. J Comp Neurol. 2014 Oct 1;522(14):3262-80
All references(60)
Disease annotation references (2)
Other
accession IDs
MGI:2661794

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
08/25/2015
MGI 6.0
The Jackson Laboratory