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

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: human all
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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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl[-]/H[+] Exchanger ClC-7.
Title: Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl(-)/H(+) Exchanger ClC-7.
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
Title: The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.
Title: CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.
H(+)/Cl() exchange transporter 7 promotes lysosomal acidificationmediated autophagy in mouse cardiomyocytes.
Title: H(+)/Cl(‑) exchange transporter 7 promotes lysosomal acidification‑mediated autophagy in mouse cardiomyocytes.
NHE6 and ClC-7 are both expressed in the choroid plexus epithelial cells, and are potentially involved in pH regulation of the CSF.
Title: The murine choroid plexus epithelium expresses the 2Cl(-)/H(+) exchanger ClC-7 and Na(+)/H(+) exchanger NHE6 in the luminal membrane domain.
a mouse with a different osteopetrosis-causing mutation (Clcn7(F318L)), is defined.
Title: Clcn7(F318L/+) as a new mouse model of Albers-Schönberg disease.
ClC-7 may affect tooth development by directly targeting tooth cells, and regulate tooth eruption through DFC mediated osteoclast pathway.
Title: ClC-7 Deficiency Impairs Tooth Development and Eruption.
ClC-7 is essential for osteoclasts to resorb craniofacial bones to enable tooth eruption and root development.
Title: Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralization.
ClC-7 deficiency impacts the development of the dentition and calvaria, but does not significantly disrupt amelogenesis.
Title: Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7.
ClC-7 does not appear to be crucially involved in gastric acid secretion, which explains the absence of an osteopetrorickets phenotype in CLCN7-related osteopetrosis.
Title: ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125850 (e-PCR)
- UniSTS:142176

RH124883 (e-PCR)
- UniSTS:161705

AW538136 (e-PCR)
- UniSTS:180977

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

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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)

NM_001317404.1 → NP_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:716 → 773

CBS; CBS domain [Signal transduction mechanisms]

cd03685
Location:73 → 598

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:614 → 768

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:163 → 573

Voltage_CLC; Voltage gated chloride channel
NM_011930.4 → NP_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:93 → 618

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:624 → 788

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