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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:180717372-180777093 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 103.57 cM, cytoband H3-4
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1233 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1309503
 protein coding gene Chr2:180717372-180777368 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027010
 protein coding gene Chr2:187649033-187708780 (-)
A/J MGP_AJ_G0026976
 protein coding gene Chr2:179930414-179990044 (-)
AKR/J MGP_AKRJ_G0026946
 protein coding gene Chr2:185320622-185380491 (-)
BALB/cJ MGP_BALBcJ_G0026985
 protein coding gene Chr2:180391686-180452012 (-)
C3H/HeJ MGP_C3HHeJ_G0026726
 protein coding gene Chr2:185678012-185738582 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027431
 protein coding gene Chr2:193070735-193130359 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024796
 protein coding gene Chr2:170618835-170673382 (-)
CAST/EiJ MGP_CASTEiJ_G0026185
 protein coding gene Chr2:183929276-183990341 (-)
CBA/J MGP_CBAJ_G0026703
 protein coding gene Chr2:200067671-200130277 (-)
DBA/2J MGP_DBA2J_G0026841
 protein coding gene Chr2:179021718-179081686 (-)
FVB/NJ MGP_FVBNJ_G0026807
 protein coding gene Chr2:177638706-177698737 (-)
LP/J MGP_LPJ_G0026942
 protein coding gene Chr2:187660248-187721238 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026826
 protein coding gene Chr2:202638939-202699745 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027490
 protein coding gene Chr2:185293388-185352996 (-)
PWK/PhJ MGP_PWKPhJ_G0025921
 protein coding gene Chr2:176547261-176607504 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025721
 protein coding gene Chr2:181767901-181839965 (-)
WSB/EiJ MGP_WSBEiJ_G0026257
 protein coding gene Chr2:186276968-186336628 (-)



Homology
more
  • Human Ortholog
    KCNQ2, potassium voltage-gated channel subfamily Q member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNQ2, potassium voltage-gated channel subfamily Q member 2
  • Synonyms
    BFNC, DEE7, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
  • Links
    NCBI Gene ID: 3785
    neXtProt AC: NX_O43526
    UniProt: O43526

  • Chr Location
    20q13.33; chr20:63400208-63472677 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Kcnq2 mouse models; 2 with human KCNQ2 associations

Human Disease Mouse Models
      
IDs
 View 5 models
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 8 alleles in 11 genetic backgrounds
    7 phenotypes from multigenic genotypes
    50 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.
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
less
  • All GO Annotations
    103
  • GO References
    30
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    800
  • Tissues
    51
  • cDNA Data
    28
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000016346 Ensembl Gene Model | MGI Sequence Detail 59722 C57BL/6J ±  kb
    transcript ENSMUST00000149964 Ensembl | MGI Sequence Detail 8209 Not Applicable  
    polypeptide ENSMUSP00000122915 Ensembl | MGI Sequence Detail 870 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      14 Sequences
    • Protein Ontology
      PR:000000729 voltage-gated potassium channel subunit KCNQ2
      (term hierarchy)
    • 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
    • GlyGen
      Q9Z351 2 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 45
      Genomic 9
      cDNA 28
      Primer pair 7
      Other 1

      Microarray probesets 13
    Other
    Accession IDs
    less
    MGI:2661794
    References
    more
    • Summaries
      All 104
      Developmental Gene Expression 12
      Diseases 5
      Gene Ontology 30
      Phenotypes 50
    • Earliest
      J:49031 Nakamura M, et al., KQT2, a new putative potassium channel family produced by alternative splicing. Isolation, genomic structure, and alternative splicing of the putative potassium channels. Receptors Channels. 1998;5(5):255-71
    • Latest
      J:353385 Abreo TJ, et al., Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy. bioRxiv. 2024 Jun 26;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory