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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 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 (47)   
Theiler Stages: 19, 25, 26, 28
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)
Other database
links
VEGA Gene ModelOTTMUSG00000016558 (Evidence)
Ensembl Gene ModelENSMUSG00000016346 (Evidence)
Entrez Gene16536 (Evidence)
DFCITC1579104, TC1580722, TC1595993, TC1596531, TC1596747, TC1604003, TC1618741, TC1625841, TC1682679, TC1692735
DoTSDT.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 IndexU023774
Consensus CDS ProjectCCDS17193.1, 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 StatusKcnq2
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(226) RefSeq(67) UniProt(17)
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:207976 Li Q, et al., The splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation. Elife. 2014;3:e01201
All references(58)
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
08/12/2014
MGI 5.19
The Jackson Laboratory