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Kcnq1 Gene Detail
Summary
  • Symbol
    Kcnq1
  • Name
    potassium voltage-gated channel, subfamily Q, member 1
  • Synonyms
    Kcna9, KVLQT1
  • Feature Type
    protein coding gene
  • IDs
    MGI:108083
    NCBI Gene: 16535
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:142660614-142980787 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 88.12 cM
  • Mapping Data
    20 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6088 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108083
 protein coding gene Chr7:142660099-142980787 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033271
 protein coding gene Chr7:148387222-148717765 (+)
A/J MGP_AJ_G0033254
 protein coding gene Chr7:144088463-144409821 (+)
AKR/J MGP_AKRJ_G0033185
 protein coding gene Chr7:148138826-148460148 (+)
BALB/cJ MGP_BALBcJ_G0033254
 protein coding gene Chr7:143864674-144193156 (+)
C3H/HeJ MGP_C3HHeJ_G0032970
 protein coding gene Chr7:147901470-148224525 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033764
 protein coding gene Chr7:153751009-154091044 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030737
 protein coding gene Chr7:145302361-145621494 (+)
CAST/EiJ MGP_CASTEiJ_G0032292
 protein coding gene Chr7:140204644-140533220 (+)
CBA/J MGP_CBAJ_G0032941
 protein coding gene Chr7:159010684-159343772 (+)
DBA/2J MGP_DBA2J_G0033095
 protein coding gene Chr7:142062774-142381603 (+)
FVB/NJ MGP_FVBNJ_G0033043
 protein coding gene Chr7:141983394-142309054 (+)
LP/J MGP_LPJ_G0033187
 protein coding gene Chr7:149906064-150247978 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033077
 protein coding gene Chr7:159605988-159943314 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033784
 protein coding gene Chr7:147103578-147427267 (+)
PWK/PhJ MGP_PWKPhJ_G0032001
 protein coding gene Chr7:135365630-135695246 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031847
 protein coding gene Chr7:133908148-134241068 (+)
WSB/EiJ MGP_WSBEiJ_G0032404
 protein coding gene Chr7:148102679-148431130 (+)



Homology
more
  • Human Ortholog
    KCNQ1, potassium voltage-gated channel subfamily Q member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNQ1, potassium voltage-gated channel subfamily Q member 1
  • Synonyms
    ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, Kv1.9, Kv7.1, KVLQT1, LQT, LQT1, RWS, SQT2, WRS
  • Links
    NCBI Gene ID: 3784
    neXtProt AC: NX_P51787
    UniProt: P51787

  • Chr Location
    11p15.5-p15.4; chr11:2444654-2849105 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Kcnq1 mouse models; 7 with human KCNQ1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    75 phenotypes from 9 alleles in 7 genetic backgrounds
    2 phenotypes from multigenic genotypes
    4 images
    36 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.
Homozygous targeted null or spontaneous mutants show circling and head-tossing behavior and are deaf with inner ear dysmorphology. Paternal inheritance of a deletion of an imprinted control region within an intron of this gene results in small body size.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    169
  • GO References
    36
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
    1029
  • Tissues
    103
  • cDNA Data
    7
  • Literature Summary
    65
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16535 NCBI Gene Model | MGI Sequence Detail 320174 C57BL/6J ±  kb
    transcript NM_008434 RefSeq | MGI Sequence Detail 3043 ZRU/MplStud  
    polypeptide P97414 UniProt | EBI | MGI Sequence Detail 668 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 94
      Genomic 66
      cDNA 7
      Primer pair 20
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37120, MGI:2142270
    References
    more
    • Summaries
      All 158
      Developmental Gene Expression 65
      Diseases 5
      Gene Ontology 36
      Phenotypes 36
    • Earliest
      J:10529 Bastian H, et al., A murine even-skipped homologue, Evx 1, is expressed during early embryogenesis and neurogenesis in a biphasic manner [published erratum appears in EMBO J 1991 Dec;10(12):3978]. EMBO J. 1990 Jun;9(6):1839-52
    • Latest
      J:347618 Qin T, et al., Ptch1 is essential for cochlear marginal cell differentiation and stria vascularis formation. Cell Rep. 2024 Apr 23;43(4):114083
    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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    12/10/2024
    MGI 6.24     		The Jackson Laboratory