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    CLCN7 chloride voltage-gated channel 7 [ Homo sapiens (human) ]

    Gene ID: 1186, updated on 31-Jul-2021

    Summary

    Official Symbol
    CLCN7provided by HGNC
    Official Full Name
    chloride voltage-gated channel 7provided by HGNC
    Primary source
    HGNC:HGNC:2025
    See related
    Ensembl:ENSG00000103249 MIM:602727
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HOD; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63
    Summary
    The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 16.9), kidney (RPKM 15.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CLCN7 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1444935..1475028, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1494936..1525029, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene intestine-critical region regulatory element Neighboring gene proline and glutamate rich with coiled coil 1 Neighboring gene coiled-coil domain containing 154 Neighboring gene RPS3A pseudogene 2 Neighboring gene pentraxin 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ26686, FLJ39644, FLJ46423

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chloride channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables chloride transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    H(+)/Cl(-) exchange transporter 7
    Names
    chloride channel 7 alpha subunit
    chloride channel protein 7
    chloride channel, voltage-sensitive 7
    protein phosphatase 1, regulatory subunit 63

    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.

    Genomic

    1. NG_007567.1 RefSeqGene

      Range
      5057..35150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001114331.3NP_001107803.1  H(+)/Cl(-) exchange transporter 7 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.
      Source sequence(s)
      AA741117, AK056551, AL031600, DB061109
      Consensus CDS
      CCDS45378.1
      UniProtKB/Swiss-Prot
      P51798
      Related
      ENSP00000410907.1, ENST00000448525.5
      Conserved Domains (4) summary
      COG0517
      Location:714771
      CBS; CBS domain [Signal transduction mechanisms]
      cd03685
      Location:71596
      ClC_6_like; ClC-6-like chloride channel proteins. This CD includes ClC-6, ClC-7 and ClC-B, C, D in plants. Proteins in this family are ubiquitous in eukarotes and their functions are unclear. They are expressed in intracellular organelles membranes. This family ...
      cd04591
      Location:612766
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:161571
      Voltage_CLC; Voltage gated chloride channel
    2. NM_001287.6NP_001278.1  H(+)/Cl(-) exchange transporter 7 isoform a

      See identical proteins and their annotated locations for NP_001278.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AA741117, AL031600, AL031705, BC012737
      Consensus CDS
      CCDS32361.1
      UniProtKB/Swiss-Prot
      P51798
      Related
      ENSP00000372193.4, ENST00000382745.9
      Conserved Domains (2) summary
      cd03685
      Location:95620
      ClC_6_like; ClC-6-like chloride channel proteins. This CD includes ClC-6, ClC-7 and ClC-B, C, D in plants. Proteins in this family are ubiquitous in eukarotes and their functions are unclear. They are expressed in intracellular organelles membranes. This family ...
      cd04591
      Location:626790
      CBS_pair_voltage-gated_CLC_euk_bac; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the voltage gated CLC (chloride channel) in eukaryotes and bacteria

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      1444935..1475028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522354.1XP_011520656.1  H(+)/Cl(-) exchange transporter 7 isoform X1

      Conserved Domains (4) summary
      COG0517
      Location:680737
      CBS; CBS domain [Signal transduction mechanisms]
      cd03685
      Location:37562
      ClC_6_like; ClC-6-like chloride channel proteins. This CD includes ClC-6, ClC-7 and ClC-B, C, D in plants. Proteins in this family are ubiquitous in eukarotes and their functions are unclear. They are expressed in intracellular organelles membranes. This family ...
      cd04591
      Location:578732
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:127537
      Voltage_CLC; Voltage gated chloride channel
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