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Clcn5 Gene Detail
Summary
  • Symbol
    Clcn5
  • Name
    chloride channel, voltage-sensitive 5
  • Synonyms
    5430408K11Rik, Clc4-1, Clc5, ClC-5, Clcn4-1, D930009B12Rik, DXImx42e, Sfc13
  • Feature Type
    protein coding gene
  • IDs
    MGI:99486
    NCBI Gene: 12728
Location & Maps
more
  • Sequence Map
    ChrX:7153810-7319358 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      165549 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CLCN5, chloride channel, voltage-sensitive 5
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CLCN5, chloride channel, voltage-sensitive 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ClC-5, CLC5, CLCK2, DENTS, hCIC-K2, NPHL1, NPHL2, XLRH, XRN
  • Links
    NCBI Gene ID: 1184
    neXtProt AC: NX_P51795

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

Human Diseases
more
  • Diseases
    1 with Clcn5 mouse models; 4 with human CLCN5 associations

Human Disease Mouse Models
       Dent Disease 1   OMIM: 300009 View 2 models
       Hypophosphatemic Rickets, X-Linked Recessive   OMIM: 300554
Nephrolithiasis, X-Linked Recessive, with Renal Failure; XRN   OMIM: 310468
Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis   OMIM: 308990
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 6 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    24
  • Gene trapped
    15
  • Targeted
    9
  • Incidental Mutations
    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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    668 from dbSNP Build 137
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 29
    Genomic 5
    cDNA 21
    Primer pair 3

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-16260, MGD-MRK-26001, MGI:104567, MGI:1859611, MGI:2148085, MGI:2389581, MGI:2444201
References
more
  • Summaries
    All 69
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 8
    Phenotypes 22
  • Earliest
    J:26310 Rugarli EI, et al., Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice [see comments]. Nat Genet. 1995 Aug;10(4):466-71
  • Latest
    J:215636 Katsura KA, et al., WDR72 models of structure and function: a stage-specific regulator of enamel mineralization. Matrix Biol. 2014 Sep;38:48-58

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory