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Clcn3 Gene Detail
Summary
  • Symbol
    Clcn3
  • Name
    chloride channel, voltage-sensitive 3
  • Synonyms
    Clc3
  • Feature Type
    protein coding gene
  • IDs
    MGI:103555
    NCBI Gene: 12725
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:61363423-61436334 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 30.90 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    277 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103555
 protein coding gene Chr8:61363423-61436351 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033632
 protein coding gene Chr8:60792721-60866788 (-)
A/J MGP_AJ_G0033614
 protein coding gene Chr8:58216011-58288696 (-)
AKR/J MGP_AKRJ_G0033539
 protein coding gene Chr8:59884538-59959789 (-)
BALB/cJ MGP_BALBcJ_G0033610
 protein coding gene Chr8:58465058-58537708 (-)
C3H/HeJ MGP_C3HHeJ_G0033320
 protein coding gene Chr8:60551920-60625713 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034127
 protein coding gene Chr8:63117431-63192892 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031075
 protein coding gene Chr8:53465258-53539543 (-)
CAST/EiJ MGP_CASTEiJ_G0032645
 protein coding gene Chr8:59970272-60051870 (-)
CBA/J MGP_CBAJ_G0033298
 protein coding gene Chr8:65395423-65477415 (-)
DBA/2J MGP_DBA2J_G0033452
 protein coding gene Chr8:57960869-58038343 (-)
FVB/NJ MGP_FVBNJ_G0033393
 protein coding gene Chr8:57280177-57353417 (-)
LP/J MGP_LPJ_G0033540
 protein coding gene Chr8:60762492-60841438 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033437
 protein coding gene Chr8:67506183-67585328 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034145
 protein coding gene Chr8:60133960-60206236 (-)
PWK/PhJ MGP_PWKPhJ_G0032354
 protein coding gene Chr8:57272837-57347841 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032190
 protein coding gene Chr8:59104086-59177208 (-)
WSB/EiJ MGP_WSBEiJ_G0032762
 protein coding gene Chr8:60456893-60538857 (-)



Homology
more
  • Human Ortholog
    CLCN3, chloride voltage-gated channel 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLCN3, chloride voltage-gated channel 3
  • Synonyms
    ClC-3, CLC3, NEDHYBA, NEDSBA
  • Links
    NCBI Gene ID: 1182
    neXtProt AC: NX_P51790
    UniProt: P51790

  • Chr Location
    4q33; chr4:169612633-169723673 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Clcn3 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
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
    71 phenotypes from 4 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    39 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.
Nullizygous mutations cause degeneration of hippocampal neurons and retinal photoreceptors, reduced body weight, behavioral deficits, gliosis, kyphosis and premature death, and may alter male fertility, ileum morphology, liver physiology, seizure susceptibility, and behavioral response to drugs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    67
  • GO References
    16
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
non-membrane-bounded 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
    821
  • Tissues
    57
  • cDNA Data
    25
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004319 Ensembl Gene Model | MGI Sequence Detail 72912 C57BL/6J ±  kb
    transcript ENSMUST00000004430 Ensembl | MGI Sequence Detail 4175 Not Applicable  
    polypeptide ENSMUSP00000004430 Ensembl | MGI Sequence Detail 866 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      cDNA 26
      Primer pair 5

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-24439
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 16
      Phenotypes 39
    • Earliest
      J:24378 Mills KA, et al., Genetic mapping near the myd locus on mouse chromosome 8. Mamm Genome. 1995 Apr;6(4):278-80
    • Latest
      J:297238 Weinert S, et al., Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO J. 2020 May 4;39(9):e103358
    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
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory