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Clcn7 chloride channel, voltage-sensitive 7 [ Mus musculus (house mouse) ]

Gene ID: 26373, updated on 21-Apr-2024

Summary

Official Symbol
Clcn7provided by MGI
Official Full Name
chloride channel, voltage-sensitive 7provided by MGI
Primary source
MGI:MGI:1347048
See related
Ensembl:ENSMUSG00000036636 AllianceGenome:MGI:1347048
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
ClC-7; D17Wsu51e
Summary
Predicted to enable chloride transmembrane transporter activity. Predicted to be involved in response to pH. Predicted to act upstream of or within ion transport. Predicted to be located in cytoplasmic vesicle and nucleoplasm. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in several structures, including early conceptus; heart and pericardium; nervous system; oocyte; and submandibular gland primordium. Used to study autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Human ortholog(s) of this gene implicated in autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Orthologous to human CLCN7 (chloride voltage-gated channel 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in genital fat pad adult (RPKM 32.4), kidney adult (RPKM 17.7) and 28 other tissues See more
Orthologs
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Genomic context

Location:
17 A3.3; 17 12.53 cM
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (25352353..25381077)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25133378..25162103)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene telomere maintenance 2 Neighboring gene pentraxin 4 Neighboring gene microRNA 12188 Neighboring gene coiled-coil domain containing 154 Neighboring gene intestine-critical region regulatory element Neighboring gene proline and glutamate rich with coiled coil 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:25321285-25321526 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 4

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)
  • Gene trapped (1) 
  • Targeted (11)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
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 transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in response to pH ISO
Inferred from Sequence Orthology
more info
 
involved_in transepithelial chloride transport ISO
Inferred from Sequence Orthology
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of chloride channel complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
H(+)/Cl(-) exchange transporter 7
Names
chloride channel 7 alpha subunit
chloride channel protein 7

NCBI Reference Sequences (RefSeq)

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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_001317404.1NP_001304333.1  H(+)/Cl(-) exchange transporter 7 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' structure, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC130711, AK150395, BB769566
    Consensus CDS
    CCDS84282.1
    UniProtKB/TrEMBL
    E9PYL4, F6SUM2
    Related
    ENSMUSP00000124194.2, ENSMUST00000160961.8
    Conserved Domains (4) summary
    COG0517
    Location:716773
    CBS; CBS domain [Signal transduction mechanisms]
    cd03685
    Location:73598
    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:614768
    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:163573
    Voltage_CLC; Voltage gated chloride channel
  2. NM_011930.4NP_036060.1  H(+)/Cl(-) exchange transporter 7 isoform 1

    See identical proteins and their annotated locations for NP_036060.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK030444, BB769566, BY124882
    Consensus CDS
    CCDS28509.1
    UniProtKB/Swiss-Prot
    O70496
    UniProtKB/TrEMBL
    F6SUM2, Q6RUT9
    Related
    ENSMUSP00000035964.3, ENSMUST00000040729.9
    Conserved Domains (2) summary
    cd03685
    Location:93618
    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:624788
    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: 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
    25352353..25381077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001782075.3 RNA Sequence

  2. XR_385328.5 RNA Sequence

    Related
    ENSMUST00000233633.2