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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
Chr2:181075579-181135291 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 western clawed frog; 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; chr20:63400208-63472640 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human KCNQ2
Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Chemically induced (ENU)(1) Gene trapped(6) Spontaneous(1) Targeted(7)
Genomic Mutations involving Kcnq2 (1)
Incidental mutations (data from Mutagenetix , APF )
 
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)   
Interactions
Kcnq2 interacts with 427 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 (86)    Tissues (48)    Tissue x Stage Matrix (view)
Assay TypeResults
In situ reporter (knock in) 36
Northern blot 3
RT-PCR 47
cDNA source data(27)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(40) Genomic(8) cDNA(27) Primer pair(4) Other(1)
Microarray probesets(13)
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016558 VEGA Gene Model | MGI Sequence Detail 59713 C57BL/6J ±  kb
transcript OTTMUST00000040028 VEGA | MGI Sequence Detail 8098 Not Applicable 
polypeptide OTTMUSP00000017858 VEGA | MGI Sequence Detail 870 Not Applicable 

For the selected sequences
All sequences(225) RefSeq(67) UniProt(16)
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 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:213443 Tomonoh Y, et al., The kick-in system: a novel rapid knock-in strategy. PLoS One. 2014;9(2):e88549
All references(59)
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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Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory