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Clcn5
Gene Detail
Symbol

Name
ID
Clcn5
chloride channel 5
MGI:99486
Synonyms
5430408K11Rik, Clc5, ClC-5, D930009B12Rik, DXImx42e, Sfc13
Feature Type
protein coding gene
Genetic Map
Chromosome X
3.21 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
ChrX:7153810-7319358 bp, - strand
From VEGA annotation of GRCm38

  165549 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:73872  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: CLCN5
Protein SuperFamily: chloride channel protein
Gene Tree: Clcn5

Human
homologs
CLCN5, chloride channel, voltage-sensitive 5
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1184
neXtProt AC: NX_P51795

Human Synonyms: ClC-5, CLC5, CLCK2, DENTS, hCIC-K2, NPHL1, NPHL2, XLRH, XRN

Human Chr (Location): Xp11.23-p11.22; chrX:49922615-50099235 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human CLCN5

Mutations,
alleles, and
phenotypes
All mutations/alleles(24) : Gene trapped(15) Targeted(9)
Incidental mutations (data from APF )
 
Mice homozyous for targeted mutations that inactivate this gene display impaired endocytosis of filtered proteins by kidney proximal tubular cells and provide a model of Dent's disease.
 
Human Diseases Modeled in Mice Using Clcn5 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Clcn5 interacts with 485 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process chloride transmembrane transport, chloride transport, ...
Component apical part of cell, endosome, ...
Function antiporter activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (21)    Tissues (21)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 18
RT-PCR 3
cDNA source data(10)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA CLCN5 ; Xenbase clcn5    NEW 
Molecular
reagents
All nucleic(20) Genomic(5) cDNA(13) Primer pair(2)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000016484 (Evidence)
Ensembl Gene Model ENSMUSG00000004317 (Evidence)
Entrez Gene 12728 (Evidence)
DFCI TC1584333, TC1603924, TC1669997, TC1641527
DoTS DT.87040833, DT.531460, DT.40135650
NIA Mouse Gene Index U215370, U039222
Consensus CDS Project CCDS29963.1, CCDS57727.1
International Mouse Phenotyping Consortium Status Clcn5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016484 VEGA Gene Model | MGI Sequence Detail 165549 C57BL/6J ±  kb
transcript OTTMUST00000039776 VEGA | MGI Sequence Detail 3052 Not Applicable 
polypeptide OTTMUSP00000017745 VEGA | MGI Sequence Detail 816 Not Applicable 

For the selected sequences
All sequences(65) RefSeq(16) UniProt(6)
Polymorphisms
RFLP(1) : SNPs within 2kb(668 from dbSNP Build 137)    SNPs within 2kb including multiple locations(670)
Protein-related
information
ResourceIDDescription
InterPro IPR002247 Chloride channel ClC-5
InterPro IPR014743 Chloride channel, core
InterPro IPR001807 Chloride channel, voltage gated
InterPro IPR000644 Cystathionine beta-synthase, core
Protein Ontology PR:000005532 H(+)/Cl(-) exchange transporter 5
References
(Earliest) J:26635 Blair HJ, et al., High-resolution comparative mapping of the proximal region of the mouse X chromosome. Genomics. 1995 Jul 20;28(2):305-10
(Latest) J:214979 Sutter I, et al., Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate. J Lipid Res. 2014 Jun 20;55(8):1730-1737
All references(64)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-16260, MGI:1859611, MGI:2148085, MGI:2389581, MGI:2444201

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
07/28/2015
MGI 5.22
The Jackson Laboratory