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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

Protein SuperFamily: chloride channel protein
Gene Tree: Clcn5

Human
homologs
Human Homolog CLCN5, chloride channel, voltage-sensitive 5
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
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 Using Mouse Clcn5 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Clcn5 interacts with 486 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 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 (20)    Images (1)
Theiler Stages: 25, 26, 28
Assay TypeResults
RNA in situ 18
RT-PCR 3
cDNA source data(10)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(20) Genomic(5) cDNA(13) Primer pair(2)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000016484 (Evidence)
Ensembl Gene ModelENSMUSG00000004317 (Evidence)
Entrez Gene12728 (Evidence)
DFCITC1584333, TC1603924, TC1641527, TC1669997
DoTSDT.40135650, DT.531460, DT.87040833
NIA Mouse Gene IndexU039222, U215370
Consensus CDS ProjectCCDS29963.1, CCDS57727.1
International Mouse Knockout Project StatusClcn5
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(59) RefSeq(10) 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:195944 Arnaiz I, et al., Changing expression of chloride channels during preimplantation mouse development. Reproduction. 2013 Jan;145(1):73-84
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
08/19/2014
MGI 5.19
The Jackson Laboratory