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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
  • Alliance
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: HomoloGene, HGNC
  • Synonyms
    CLC7, CLC-7, OPTA2, OPTB4, PPP1R63
  • Links
    NCBI Gene ID: 1186
    neXtProt AC: NX_P51798
    UniProt: P51798

  • Chr Location
    16p13.3; chr16:1444933-1475084 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 56546
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
IDs
View 5 models
IDs
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
    68 phenotypes from 8 alleles in 16 genetic backgrounds
    1 phenotype from multigenic genotypes
    25 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.
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
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
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      267 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 127
      Genomic 1
      cDNA 124
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-33977, MGI:106285, MGI:2146761, MGI:2147072
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 6
      Phenotypes 25
    • 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:262319 Maurizi A, et al., RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development. Bone. 2018 May;110:343-354

    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
    10/09/2018
    MGI 6.12
    The Jackson Laboratory