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    Clic5 chloride intracellular channel 5 [ Mus musculus (house mouse) ]

    Gene ID: 224796, updated on 21-Apr-2024

    Summary

    Official Symbol
    Clic5provided by MGI
    Official Full Name
    chloride intracellular channel 5provided by MGI
    Primary source
    MGI:MGI:1917912
    See related
    Ensembl:ENSMUSG00000023959 AllianceGenome:MGI:1917912
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    jbg; Gm322; nmf318; B330005L24; 5730531E12Rik
    Summary
    Predicted to enable chloride channel activity. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; diet induced thermogenesis; and sensory perception of sound. Located in stereocilium. Is expressed in several structures, including brain; gut; inner ear; lung; and metanephros. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 103. Orthologous to human CLIC5 (chloride intracellular channel 5). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung adult (RPKM 40.1), large intestine adult (RPKM 14.4) and 10 other tissues See more
    Orthologs
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    Genomic context

    Location:
    17 B3; 17 20.53 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (44445671..44591059)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (44134762..44280169)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34917 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 5 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 4 Neighboring gene STARR-seq mESC enhancer starr_42608 Neighboring gene STARR-positive B cell enhancer ABC_E5611 Neighboring gene STARR-seq mESC enhancer starr_42609 Neighboring gene STARR-seq mESC enhancer starr_42610 Neighboring gene STARR-seq mESC enhancer starr_42611 Neighboring gene STARR-seq mESC enhancer starr_42612 Neighboring gene runt related transcription factor 2 Neighboring gene STARR-seq mESC enhancer starr_42613 Neighboring gene VISTA enhancer mm924 Neighboring gene runt related transcription factor 2, opposite strand 3 Neighboring gene STARR-seq mESC enhancer starr_42614 Neighboring gene VISTA enhancer mm657 Neighboring gene Runx2 P2 promoter Neighboring gene Runx2 P1 promoter region Neighboring gene RIKEN cDNA 4930564C03 gene Neighboring gene SPT3, SAGA and STAGA complex component

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (2)  1 citation
    • Targeted (2) 
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (3) 

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within auditory receptor cell stereocilium organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chloride transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within diet induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear receptor cell stereocilium organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within neuromuscular process controlling balance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to dietary excess IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in stereocilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stereocilium base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stereocilium bundle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    chloride intracellular channel protein 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_172621.2NP_766209.1  chloride intracellular channel protein 5

      See identical proteins and their annotated locations for NP_766209.1

      Status: VALIDATED

      Source sequence(s)
      AC116688, AC153418, AK156849
      Consensus CDS
      CCDS28804.1
      UniProtKB/Swiss-Prot
      Q3U0H8, Q8BXK9
      Related
      ENSMUSP00000024755.6, ENSMUST00000024755.7
      Conserved Domains (1) summary
      TIGR00862
      Location:14249
      O-ClC; intracellular chloride channel protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      44445671..44591059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524135.5XP_006524198.1  chloride intracellular channel protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A668KLB7
      Related
      ENSMUSP00000159274.2, ENSMUST00000239215.2
      Conserved Domains (1) summary
      TIGR00862
      Location:248483
      O-ClC; intracellular chloride channel protein