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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
  • Gene Overview
    MyGene.info: KCNQ1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:143106362-143427042 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      320681 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 88.12 cM
  • Mapping Data
    20 experiments
Homology
more
  • Human Ortholog
    KCNQ1, potassium voltage-gated channel subfamily Q member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    KCNQ1, potassium voltage-gated channel subfamily Q member 1
    Orthology source: HomoloGene, HGNC
  • 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; chr11:2444991-2849110 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Kcnq1 mouse models; 5 with human KCNQ1 associations

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

  • Mutations/Alleles
    7 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    75 phenotypes from 9 alleles in 7 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    31 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000046376 VEGA Gene Model | MGI Sequence Detail 320681 C57BL/6J ±  kb
    transcript OTTMUST00000120842 VEGA | MGI Sequence Detail 3029 Not Applicable  
    polypeptide OTTMUSP00000066799 VEGA | MGI Sequence Detail 668 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2179 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 91
      Genomic 66
      cDNA 7
      Primer pair 17
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37120, MGI:2142270
    References
    more
    • Summaries
      All 127
      Developmental Gene Expression 47
      Diseases 7
      Gene Ontology 13
      Phenotypes 31
    • 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:245876 Rohacek AM, et al., ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. Dev Cell. 2017 Nov 06;43(3):318-331.e5

    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
    10/16/2018
    MGI 6.12
    The Jackson Laboratory