Format

Send to:

Choose Destination

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

Gene ID: 1186, updated on 12-Aug-2018

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; Vega:OTTHUMG00000044467
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
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

Genomic context

See CLCN7 in Genome Data Viewer
Location:
16p13.3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (1444933..1475084, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1494934..1525085, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371044 Neighboring gene uncharacterized LOC105371045 Neighboring gene coiled-coil domain containing 154 Neighboring gene ribosomal protein S3A 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
antiporter activity IEA
Inferred from Electronic Annotation
more info
 
chloride channel activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to pH IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    5001..35152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001114331.2NP_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_001287.5NP_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, OTTHUMP00000041762, ENST00000382745.8, OTTHUMT00000103598
    Conserved Domains (4) summary
    COG0517
    Location:738795
    CBS; CBS domain [Signal transduction mechanisms]
    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:636790
    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:185595
    Voltage_CLC; Voltage gated chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    1444933..1475084 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
Support Center