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Kcnq2 Gene Detail
Summary
  • Symbol
    Kcnq2
  • Name
    potassium voltage-gated channel, subfamily Q, member 2
  • Synonyms
    KQT2, Nmf134
  • Feature Type
    protein coding gene
  • IDs
    MGI:1309503
    NCBI Gene: 16536
  • Gene Overview
    MyGene.info: KCNQ2
Location & Maps
more
  • Sequence Map
    Chr2:181075579-181135300 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      59722 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 103.57 cM, cytoband H3-4
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    KCNQ2, potassium voltage-gated channel subfamily Q member 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KCNQ2, potassium voltage-gated channel subfamily Q member 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
  • Links
    NCBI Gene ID: 3785
    neXtProt AC: NX_O43526

  • Chr Location
    20q13.3; chr20:63400208-63472640 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Kcnq2 mouse models; 2 with human KCNQ2 associations

Human Disease Mouse Models
       Seizures, Benign Familial Neonatal, 1; BFNS1   OMIM: 121200 View 5 models
       Epileptic Encephalopathy, Early Infantile, 7; EIEE7   OMIM: 613720
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 7 alleles in 10 genetic backgrounds
    7 phenotypes from multigenic genotypes
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    20
  • Chemically induced (ENU)
    1
  • Gene trapped
    6
  • Spontaneous
    1
  • Targeted
    12
  • Genomic Mutations
    1 involving Kcnq2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    453 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    14 Sequences
  • InterPro Domains
    IPR020969 Ankyrin-G binding site
    IPR005821 Ion transport domain
    IPR003937 Potassium channel, voltage dependent, KCNQ
    IPR003947 Potassium channel, voltage dependent, KCNQ2
    IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal
    IPR028325 Voltage-gated potassium channel
Molecular
Reagents
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  • All nucleic 43
    Genomic 8
    cDNA 28
    Primer pair 6
    Other 1

    Microarray probesets 13
Other
Accession IDs
less
MGI:2661794
References
more
  • Summaries
    All 58
    Developmental Gene Expression 8
    Diseases 3
    Gene Ontology 9
    Phenotypes 21
  • 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:231232 Schutze S, et al., KCNQ Potassium Channels Modulate Sensitivity of Skin Down-hair (D-hair) Mechanoreceptors. J Biol Chem. 2016 Mar 11;291(11):5566-75

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
07/19/2016
MGI 6.04
The Jackson Laboratory