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 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; chr16:1494934-1525085 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human CLCN7

Alleles and phenotypes

All alleles(11) : Targeted(6) Gene trapped(5)
 

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 (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	chloride transport, ion transport, ...
Component	cytoplasmic vesicle, integral to membrane, ...
Function	adenyl nucleotide binding, antiporter activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (88)    Tissues (20)    Images (21)
Theiler Stages: 11, 23, 25, 28

Assay Type	Results
RNA in situ	76
RT-PCR	12

cDNA source data(124)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(126) cDNA(124) Primer pair(2)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000031166 (Evidence)
Ensembl Gene Model	ENSMUSG00000036636 (Evidence)
Entrez Gene	26373 (Evidence)
UniGene	270587
DFCI	TC1572219, TC1590430
DoTS	DT.101261832, DT.101370758, DT.110550210, DT.493202, DT.91332584
NIA Mouse Gene Index	U017664
Consensus CDS Project	CCDS28509.1
International Mouse Knockout Project Status	Clcn7

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031166	VEGA Gene Model | MGI Sequence Detail	28714	C57BL/6J
transcript	OTTMUST00000077220	VEGA | MGI Sequence Detail	4071	Not Applicable
polypeptide	OTTMUSP00000040785	VEGA | MGI Sequence Detail	803	Not Applicable

All sequences(109) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(198 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	chloride channel protein 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:185129 Shevchuk AI, et al., An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy. J Cell Biol. 2012 May 14;197(4):499-508
All references(49)

Other accession IDs

MGD-MRK-33977, MGI:106285, MGI:2146761, MGI:2147072