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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
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7020049-7185597 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.21 cM, cytoband F3-F4
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    665 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99486
protein coding gene ChrX:7020049-7185597 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035509
protein coding gene ChrX:1743587-1914522 (-)
A/J MGP_AJ_G0035487
protein coding gene ChrX:1717104-1887712 (-)
AKR/J MGP_AKRJ_G0035420
protein coding gene ChrX:1795522-1968460 (-)
BALB/cJ MGP_BALBcJ_G0035483
protein coding gene ChrX:1743062-1911320 (-)
C3H/HeJ MGP_C3HHeJ_G0035191
protein coding gene ChrX:1787884-1959937 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036007
protein coding gene ChrX:1817102-1986730 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032882
protein coding gene ChrX:1285414-1457671 (-)
CAST/EiJ MGP_CASTEiJ_G0034491
protein coding gene ChrX:1675537-1850171 (-)
CBA/J MGP_CBAJ_G0035161
protein coding gene ChrX:1912896-2090610 (-)
DBA/2J MGP_DBA2J_G0035318
protein coding gene ChrX:1750487-1913510 (-)
FVB/NJ MGP_FVBNJ_G0035265
protein coding gene ChrX:1709159-1877320 (-)
LP/J MGP_LPJ_G0035395
protein coding gene ChrX:1753235-1921189 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035304
protein coding gene ChrX:1881836-2063226 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036025
protein coding gene ChrX:1736906-1909168 (-)
PWK/PhJ MGP_PWKPhJ_G0034193
protein coding gene ChrX:1667883-1840911 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034030
protein coding gene ChrX:1687617-1861561 (-)
WSB/EiJ MGP_WSBEiJ_G0034614
protein coding gene ChrX:1740952-1911270 (-)



Homology
more
  • Human Ortholog
    CLCN5, chloride voltage-gated channel 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLCN5, chloride voltage-gated channel 5
  • Synonyms
    ClC-5, CLC5, CLCK2, DENT1, DENTS, hCIC-K2, NPHL1, NPHL2, XLRH, XRN
  • Links
    NCBI Gene ID: 1184
    neXtProt AC: NX_P51795
    UniProt: P51795

  • Chr Location
    Xp11.23; chrX:49922596-50099235 (+)  GRCh38

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

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
IDs
IDs
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
    26 phenotypes from 6 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12728 NCBI Gene Model | MGI Sequence Detail 165549 C57BL/6J ±  kb
    transcript NM_001243762 RefSeq | MGI Sequence Detail 4170 ZRU/MplStud  
    polypeptide Q9WVD4 UniProt | EBI | MGI Sequence Detail 816 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 5
      cDNA 22
      Primer pair 5

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16260, MGD-MRK-26001, MGI:104567, MGI:1859611, MGI:2148085, MGI:2389581, MGI:2444201
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 9
      Diseases 2
      Gene Ontology 9
      Phenotypes 28
    • 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:344582 Barone S, et al., Identification of an Electrogenic 2Cl(-)/H(+) Exchanger, ClC5, as a Chloride-Secreting Transporter Candidate in Kidney Cyst Epithelium in Tuberous Sclerosis. Am J Pathol. 2023 Feb;193(2):191-200

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory