About   Help   FAQ
Clcn6 Gene Detail
Summary
  • Symbol
    Clcn6
  • Name
    chloride channel, voltage-sensitive 6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1347049
    NCBI Gene: 26372
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:148088716-148123270 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 78.67 cM, cytoband E1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    389 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1347049
 protein coding gene Chr4:148088716-148123278 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029114
 protein coding gene Chr4:151692711-151727147 (-)
A/J MGP_AJ_G0029079
 protein coding gene Chr4:145420947-145456519 (-)
AKR/J MGP_AKRJ_G0029027
 protein coding gene Chr4:149381089-149420831 (-)
BALB/cJ MGP_BALBcJ_G0029095
 protein coding gene Chr4:145934284-145968648 (-)
C3H/HeJ MGP_C3HHeJ_G0028816
 protein coding gene Chr4:149933900-149969425 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029544
 protein coding gene Chr4:157221338-157256366 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026790
 protein coding gene Chr4:137845053-137878867 (-)
CAST/EiJ MGP_CASTEiJ_G0028229
 protein coding gene Chr4:147123616-147161711 (-)
CBA/J MGP_CBAJ_G0028778
 protein coding gene Chr4:161731095-161770222 (-)
DBA/2J MGP_DBA2J_G0028926
 protein coding gene Chr4:145526856-145563134 (-)
FVB/NJ MGP_FVBNJ_G0028891
 protein coding gene Chr4:144610701-144650279 (-)
LP/J MGP_LPJ_G0029017
 protein coding gene Chr4:151637680-151675985 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028918
 protein coding gene Chr4:165095665-165146932 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029576
 protein coding gene Chr4:149860266-149896155 (-)
PWK/PhJ MGP_PWKPhJ_G0027949
 protein coding gene Chr4:141508757-141547001 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027783
 protein coding gene Chr4:144121281-144156514 (-)
WSB/EiJ MGP_WSBEiJ_G0028309
 protein coding gene Chr4:150010730-150051630 (-)



Homology
more
  • Human Ortholog
    CLCN6, chloride voltage-gated channel 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLCN6, chloride voltage-gated channel 6
  • Synonyms
    CLC-6, CONRIBA
  • Links
    NCBI Gene ID: 1185
    neXtProt AC: NX_P51797
    UniProt: P51797

  • Chr Location
    1p36.22; chr1:11806096-11848079 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Clcn6 mouse models; 1 with human CLCN6 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    1 images
    17 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 knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease).
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    7
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
    780
  • Tissues
    29
  • cDNA Data
    53
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 26372 NCBI Gene Model | MGI Sequence Detail 34555 C57BL/6J ±  kb
    transcript NM_011929 RefSeq | MGI Sequence Detail 5198 ZRU/MplStud  
    polypeptide O35454 UniProt | EBI | MGI Sequence Detail 870 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 53
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140385
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 7
      Phenotypes 17
    • Earliest
      J:57786 Kornak U, et al., Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1). Biochim Biophys Acta. 1999 Oct 6;1447(1):100-6
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory