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Clcn7 Gene Detail
Summary
  • Symbol
    Clcn7
  • Name
    chloride channel, voltage-sensitive 7
  • Synonyms
    ClC-7
  • Feature Type
    protein coding gene
  • IDs
    MGI:1347048
    NCBI Gene: 26373
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:25352365-25381078 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 12.53 cM, cytoband A3.3
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    693 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1347048
 protein coding gene Chr17:25352353-25381078 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023340
 protein coding gene Chr17:24175196-24204427 (+)
A/J MGP_AJ_G0023299
 protein coding gene Chr17:23501801-23530155 (+)
AKR/J MGP_AKRJ_G0023265
 protein coding gene Chr17:23592787-23621014 (+)
BALB/cJ MGP_BALBcJ_G0023304
 protein coding gene Chr17:23697324-23726726 (+)
C3H/HeJ MGP_C3HHeJ_G0023064
 protein coding gene Chr17:23966705-23997542 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023747
 protein coding gene Chr17:25235460-25268794 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021222
 protein coding gene Chr17:20957853-20990733 (+)
CAST/EiJ MGP_CASTEiJ_G0022566
 protein coding gene Chr17:23812933-23844377 (+)
CBA/J MGP_CBAJ_G0023039
 protein coding gene Chr17:26095539-26126085 (+)
DBA/2J MGP_DBA2J_G0023169
 protein coding gene Chr17:23090047-23118439 (+)
FVB/NJ MGP_FVBNJ_G0023139
 protein coding gene Chr17:22811041-22840008 (+)
LP/J MGP_LPJ_G0023246
 protein coding gene Chr17:24469748-24497936 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023158
 protein coding gene Chr17:25761459-25789844 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023786
 protein coding gene Chr17:23875241-23903603 (+)
PWK/PhJ MGP_PWKPhJ_G0022315
 protein coding gene Chr17:21848375-21880042 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022133
 protein coding gene Chr17:21937995-21976866 (+)
WSB/EiJ MGP_WSBEiJ_G0022629
 protein coding gene Chr17:23946629-23974853 (+)



Homology
more
  • Human Ortholog
    CLCN7, chloride voltage-gated channel 7
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLCN7, chloride voltage-gated channel 7
  • Synonyms
    CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
  • Links
    NCBI Gene ID: 1186
    neXtProt AC: NX_P51798
    UniProt: P51798

  • Chr Location
    16p13.3; chr16:1444934-1475077 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Clcn7 mouse models; 2 with human CLCN7 associations

Human Disease Mouse Models
      
IDs
 View 7 models
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    85 phenotypes from 11 alleles in 18 genetic backgrounds
    1 phenotype from multigenic genotypes
    33 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 postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    8
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
    801
  • Tissues
    28
  • cDNA Data
    124
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036636 Ensembl Gene Model | MGI Sequence Detail 28714 C57BL/6J ±  kb
    transcript ENSMUST00000162862 Ensembl | MGI Sequence Detail 4237 Not Applicable  
    polypeptide ENSMUSP00000124527 Ensembl | MGI Sequence Detail 860 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 128
      Genomic 1
      cDNA 124
      Primer pair 3

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-33977, MGI:106285, MGI:2146761, MGI:2147072
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 8
      Phenotypes 33
    • Earliest
      J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
    • Latest
      J:330025 Alam I, et al., Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice. FASEB J. 2022 Sep;36(9):e22471
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory