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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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.21 cM, cytoband F3-F4
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3513 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
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
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
less
  • Phenotype Summary
    26 phenotypes from 6 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    31 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
less
  • All GO Annotations
    35
  • GO References
    11
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    740
  • Tissues
    30
  • cDNA Data
    11
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 88
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 11
      Phenotypes 31
    • 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:347886 Tourkova IL, et al., Chloride/proton antiporters ClC3 and ClC5 support bone formation in mice. Bone Rep. 2024 Jun;21:101763
    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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    Funding Information
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory