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Clcn7
Gene Detail
 Symbol
Name
ID
Clcn7
chloride channel 7
MGI:1347048
Synonyms ClC-7
Feature Type protein coding gene
Genetic Map
Chromosome 17
12.53 cM, cytoband A3.3
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr17:25133391-25162104 bp, + strand
From VEGA annotation of GRCm38

  28714 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56546  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Clcn7

Human
homologs
Human Homolog CLCN7, chloride channel, voltage-sensitive 7
NCBI Gene ID 1186
neXtProt AC  NX_P51798
Human Synonyms  CLC7, CLC-7, OPTA2, OPTB4, PPP1R63
Human Chr (Location)  16p13; chr16:1444933-1475084 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human CLCN7
Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Gene trapped(5) Radiation induced(2) Targeted(8)
Genomic Mutations involving Clcn7 (2)
Incidental mutations (data from Mutagenetix , APF )
 
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 accumulation of giant lysosomes in renal tubule cells.
 
Human Diseases Modeled Using Mouse Clcn7 (2)    Alleles Annotated to Human Diseases(4)   
Interactions
Clcn7 interacts with 202 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process chloride transport, ion transport, ...
Component cytoplasmic vesicle, integral component of membrane, ...
Function antiporter activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (88)    Tissues (22)    Images (21)
Theiler Stages: 11, 23, 25, 27, 28
Assay TypeResults
RNA in situ 76
RT-PCR 12
cDNA source data(124)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(126) cDNA(124) Primer pair(2)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000031166 (Evidence)
Ensembl Gene ModelENSMUSG00000036636 (Evidence)
Entrez Gene26373 (Evidence)
UniGene270587
DFCITC1572219, TC1590430
DoTSDT.101261832, DT.101370758, DT.110550210, DT.493202, DT.91332584
NIA Mouse Gene IndexU017664
Consensus CDS ProjectCCDS28509.1
International Mouse Knockout Project StatusClcn7
Sequences
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 sequences
All sequences(112) RefSeq(5) UniProt(7)
Polymorphisms SNPs within 2kb(271 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002249 Chloride channel ClC-7
InterPro IPR014743 Chloride channel, core
InterPro IPR001807 Chloride channel, voltage gated
InterPro IPR000644 Cystathionine beta-synthase, core
Protein Ontology PR:000005534 H(+)/Cl(-) exchange transporter 7
References (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:203775 Supanchart C, et al., ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion. Bone. 2014 Jan;58:92-102
All references(53)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-33977, MGI:106285, MGI:2146761, MGI:2147072

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory