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Clic5 Gene Detail
Summary
  • Symbol
    Clic5
  • Name
    chloride intracellular channel 5
  • Synonyms
    5730531E12Rik, nmf318
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917912
    NCBI Gene: 224796
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:44445671-44591059 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 20.53 cM, cytoband C
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1262 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917912
 protein coding gene Chr17:44445659-44591059 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023783
 protein coding gene Chr17:45118189-45214514 (+)
A/J MGP_AJ_G0023741
 protein coding gene Chr17:44081032-44176557 (+)
AKR/J MGP_AKRJ_G0023712
 protein coding gene Chr17:44346934-44450683 (+)
BALB/cJ MGP_BALBcJ_G0023745
 protein coding gene Chr17:43962407-44055875 (+)
C3H/HeJ MGP_C3HHeJ_G0023509
 protein coding gene Chr17:45059132-45157110 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024188
 protein coding gene Chr17:47119030-47222656 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021638
 protein coding gene Chr17:40900383-40998154 (+)
CAST/EiJ MGP_CASTEiJ_G0022990
 protein coding gene Chr17:45108371-45222813 (+)
CBA/J MGP_CBAJ_G0023485
 protein coding gene Chr17:48810178-48871113 (+)
DBA/2J MGP_DBA2J_G0023611
 protein coding gene Chr17:42883856-42979963 (+)
FVB/NJ MGP_FVBNJ_G0023578
 protein coding gene Chr17:42444134-42535996 (+)
LP/J MGP_LPJ_G0023692
 protein coding gene Chr17:45777144-45878067 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023607
 protein coding gene Chr17:48387637-48490051 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024233
 protein coding gene Chr17:44700028-44804011 (+)
PWK/PhJ MGP_PWKPhJ_G0022735
 protein coding gene Chr17:42150649-42247711 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022550
 protein coding gene Chr17:41563741-41666863 (+)
WSB/EiJ MGP_WSBEiJ_G0023055
 protein coding gene Chr17:45216477-45321471 (+)



Homology
more
  • Human Ortholog
    CLIC5, chloride intracellular channel 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLIC5, chloride intracellular channel 5
  • Synonyms
    DFNB102, DFNB103, MST130, MSTP130
  • Links
    NCBI Gene ID: 53405
    neXtProt AC: NX_Q9NZA1
    UniProt: Q9NZA1

  • Chr Location
    6p21.1; chr6:45880827-46129819 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CLIC5 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 4 alleles in 6 genetic backgrounds
    21 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 homozygous for a spontaneous mutation exhibit head bobbing and circling behavior and complete deafness by 7-8 months of age caused by dysmorphic stereocilia and progressive hair cell degeneration. Mice are resistant to diet-induced obesity and are unable to maintain energy reserves. Cataracts develop with age. Renal glomerulus defects are present.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    12
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
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
    913
  • Tissues
    125
  • cDNA Data
    42
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 224796 NCBI Gene Model | MGI Sequence Detail 145389 C57BL/6J ±  kb
    transcript NM_172621 RefSeq | MGI Sequence Detail 5870 NOD  
    polypeptide Q8BXK9 UniProt | EBI | MGI Sequence Detail 251 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 43
      Primer pair 6

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2667335, MGI:3522002
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 9
      Gene Ontology 12
      Phenotypes 21
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345440 Qi J, et al., Critical role of TPRN rings in the stereocilia for hearing. Mol Ther. 2024 Jan 3;32(1):204-217
    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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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory