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Clcn6
Gene Detail
 Symbol
Name
ID
Clcn6
chloride channel 6
MGI:1347049
Feature Type protein coding gene
Genetic Map
Chromosome 4
78.67 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr4:148004259-148038821 bp, - strand
From VEGA annotation of GRCm38

  34563 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:985  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Clcn6

Human
homologs
Human Homolog CLCN6, chloride channel, voltage-sensitive 6
NCBI Gene ID 1185
neXtProt AC  NX_P51797
Human Synonyms  CLC-6
Human Chr (Location)  1p36; chr1:11806096-11843144 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(63) : Gene trapped(62) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease).
 
Human Diseases Modeled Using Mouse Clcn6 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Clcn6 interacts with 236 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process chloride transport, ion transport, ...
Component endosome, integral component of membrane, ...
Function adenyl nucleotide binding, antiporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (64)    Tissues (17)    Images (24)
Theiler Stages: 23, 25, 28
Assay TypeResults
RNA in situ 58
RT-PCR 6
cDNA source data(52)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(54) cDNA(52) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000010195 (Evidence)
Ensembl Gene ModelENSMUSG00000029016 (Evidence)
Entrez Gene26372 (Evidence)
UniGene89987
DFCITC1604368, TC1612404, TC1618186, TC1679082
DoTSDT.101726048, DT.40163264, DT.485359
NIA Mouse Gene IndexU025781
Consensus CDS ProjectCCDS18928.1
International Mouse Knockout Project StatusClcn6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010195 VEGA Gene Model | MGI Sequence Detail 34563 C57BL/6J ±  kb
transcript OTTMUST00000023694 VEGA | MGI Sequence Detail 5198 Not Applicable 
polypeptide OTTMUSP00000010834 VEGA | MGI Sequence Detail 873 Not Applicable 

For the selected sequences
All sequences(59) RefSeq(8) UniProt(6)
Polymorphisms SNPs within 2kb(379 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002248 Chloride channel ClC-6
InterPro IPR014743 Chloride channel, core
InterPro IPR001807 Chloride channel, voltage gated
InterPro IPR000644 Cystathionine beta-synthase, core
Protein Ontology PR:000005533 chloride channel protein 6
References (Earliest) J:57786 Kornak U, et al., Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1). Biochim Biophys Acta. 1999 Oct 6;1447(1):100-6
(Latest) J:195944 Arnaiz I, et al., Changing expression of chloride channels during preimplantation mouse development. Reproduction. 2013 Jan;145(1):73-84
All references(39)
Disease annotation references (1)
Other
accession IDs
MGI:2140385

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory