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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
  • Gene Overview
    MyGene.info: CLCN7
Location & Maps
more
  • Sequence Map
    Chr17:25133391-25162104 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28714 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.53 cM, cytoband A3.3
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    CLCN7, chloride voltage-gated channel 7
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CLCN7, chloride voltage-gated channel 7
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CLC7, CLC-7, OPTA2, OPTB4, PPP1R63
  • Links
    NCBI Gene ID: 1186
    neXtProt AC: NX_P51798

  • Chr Location
    16p13; chr16:1444933-1475084 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 56546
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: CLCN7
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Clcn7 mouse models; 2 with human CLCN7 associations

Human Disease Mouse Models
       Osteopetrosis, Autosomal Dominant 2; OPTA2   OMIM: 166600 View 5 models
Osteopetrosis, Autosomal Recessive 4; OPTB4   OMIM: 611490 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    65 phenotypes from 7 alleles in 12 genetic backgrounds
    1 phenotype from multigenic genotypes
    21 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.
  • All Mutations and Alleles
    16
  • Gene trapped
    5
  • Radiation induced
    2
  • Targeted
    9
  • Genomic Mutations
    2 involving Clcn7
  • Incidental Mutations
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031166 VEGA Gene Model | MGI Sequence Detail 28714 C57BL/6J ±  kb
transcript OTTMUST00000077220 VEGA | MGI Sequence Detail 4071 Not Applicable  
polypeptide OTTMUSP00000040785 VEGA | MGI Sequence Detail 803 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    267 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 126
    cDNA 124
    Primer pair 2

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-33977, MGI:106285, MGI:2146761, MGI:2147072
References
more
  • Summaries
    All 53
    Developmental Gene Expression 5
    Diseases 2
    Gene Ontology 6
    Phenotypes 21
  • 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:217031 Weinert S, et al., Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions. EMBO Rep. 2014 Jul;15(7):784-91

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory