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Aliases for CLCN7 Gene

Aliases for CLCN7 Gene

  • Chloride Channel, Voltage-Sensitive 7 2 3
  • Chloride Channel 7 Alpha Subunit 3 4
  • Chloride Channel Protein 7 3 4
  • CLC-7 3 4
  • OPTA2 3 6
  • OPTB4 3 6
  • CLC7 3 6
  • Protein Phosphatase 1, Regulatory Subunit 63 3
  • H(+)/Cl(-) Exchange Transporter 7 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 63 2
  • Chloride Channel 7 2
  • PPP1R63 3

External Ids for CLCN7 Gene

Previous GeneCards Identifiers for CLCN7 Gene

  • GC16M001512
  • GC16M001435
  • GC16M001494
  • GC16M001421

Summaries for CLCN7 Gene

Entrez Gene Summary for CLCN7 Gene

  • 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]

GeneCards Summary for CLCN7 Gene

CLCN7 (Chloride Channel, Voltage-Sensitive 7) is a Protein Coding gene. Diseases associated with CLCN7 include osteopetrosis, autosomal dominant 2 and osteopetrosis, autosomal recessive 4. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include chloride channel activity and antiporter activity. An important paralog of this gene is CLCN2.

UniProtKB/Swiss-Prot for CLCN7 Gene

  • Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.

Gene Wiki entry for CLCN7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLCN7 Gene

Genomics for CLCN7 Gene

Regulatory Elements for CLCN7 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CLCN7 Gene

Start:
1,444,933 bp from pter
End:
1,475,580 bp from pter
Size:
30,648 bases
Orientation:
Minus strand

Genomic View for CLCN7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLCN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCN7 Gene

Proteins for CLCN7 Gene

  • Protein details for CLCN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51798-CLCN7_HUMAN
    Recommended name:
    H(+)/Cl(-) exchange transporter 7
    Protein Accession:
    P51798
    Secondary Accessions:
    • A6NEJ7
    • A8K5T9
    • A8K7X1
    • B3KPN3
    • E9PDB9
    • Q9NYX5

    Protein attributes for CLCN7 Gene

    Size:
    805 amino acids
    Molecular mass:
    88679 Da
    Quaternary structure:
    • Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.
    Miscellaneous:
    • The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity).

    Alternative splice isoforms for CLCN7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLCN7 Gene

Proteomics data for CLCN7 Gene at MOPED

Post-translational modifications for CLCN7 Gene

  • Ubiquitination at Lys88 and Lys274
  • Modification sites at PhosphoSitePlus

Other Protein References for CLCN7 Gene

No data available for DME Specific Peptides for CLCN7 Gene

Domains for CLCN7 Gene

Gene Families for CLCN7 Gene

HGNC:
  • CLCN :Ion channels / Chloride channels : Voltage-sensitive
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P51798

UniProtKB/Swiss-Prot:

CLCN7_HUMAN :
  • P51798
Domain:
  • Contains 2 CBS domains.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily.
genes like me logo Genes that share domains with CLCN7: view

Function for CLCN7 Gene

Molecular function for CLCN7 Gene

GENATLAS Biochemistry: chloride voltage-gated channel 7,89kDa,widely expressed
UniProtKB/Swiss-Prot Function: Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.

Gene Ontology (GO) - Molecular Function for CLCN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005247 voltage-gated chloride channel activity IEA --
GO:0005254 chloride channel activity TAS 8543009
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CLCN7: view
genes like me logo Genes that share phenotypes with CLCN7: view

Animal Models for CLCN7 Gene

MGI Knock Outs for CLCN7:

Animal Model Products

CRISPR Products

miRNA for CLCN7 Gene

miRTarBase miRNAs that target CLCN7

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLCN7

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CLCN7 Gene

Localization for CLCN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCN7 Gene

Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLCN7 Gene COMPARTMENTS Subcellular localization image for CLCN7 gene
Compartment Confidence
lysosome 5
vacuole 5
nucleus 3
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CLCN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with CLCN7: view

Pathways for CLCN7 Gene

genes like me logo Genes that share pathways with CLCN7: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CLCN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8543009
GO:0006821 chloride transport --
GO:0009268 response to pH IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0044070 regulation of anion transport --
genes like me logo Genes that share ontologies with CLCN7: view

Compounds for CLCN7 Gene

(1) HMDB Compounds for CLCN7 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6

(3) IUPHAR Ligand for CLCN7 Gene

Ligand Type Action Affinity Pubmed IDs
NPPB Activator Activation 6.49
NS5818 Channel blocker None 4.3
DIDS Channel blocker None

(3) Novoseek inferred chemical compound relationships for CLCN7 Gene

Compound -log(P) Hits PubMed IDs
chloride 70.9 13
valine 36.4 2
methionine 24.2 1
genes like me logo Genes that share compounds with CLCN7: view

Transcripts for CLCN7 Gene

Unigene Clusters for CLCN7 Gene

Chloride channel, voltage-sensitive 7:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLCN7

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLCN7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3:
SP4:
SP5:
SP6: - - -
SP7: - -
SP8: -
SP9: - - - -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15: - -

ExUns: 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CLCN7 Gene

GeneLoc Exon Structure for
CLCN7
ECgene alternative splicing isoforms for
CLCN7

Expression for CLCN7 Gene

mRNA expression in normal human tissues for CLCN7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CLCN7 Gene

SOURCE GeneReport for Unigene cluster for CLCN7 Gene Hs.459649

mRNA Expression by UniProt/SwissProt for CLCN7 Gene

P51798-CLCN7_HUMAN
Tissue specificity: Brain, testis, muscle and kidney
genes like me logo Genes that share expressions with CLCN7: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CLCN7 Gene

Orthologs for CLCN7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLCN7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLCN7 35
  • 99.17 (n)
  • 99.63 (a)
CLCN7 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLCN7 35
  • 88.57 (n)
  • 93.17 (a)
CLCN7 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLCN7 35
  • 88.65 (n)
  • 94.78 (a)
CLCN7 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clcn7 35
  • 87.34 (n)
  • 96.64 (a)
Clcn7 16
Clcn7 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLCN7 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLCN7 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clcn7 35
  • 87.59 (n)
  • 96.51 (a)
chicken
(Gallus gallus)
Aves CLCN7 35
  • 80.97 (n)
  • 87.83 (a)
CLCN7 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLCN7 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clcn7 35
  • 73.86 (n)
  • 81.06 (a)
zebrafish
(Danio rerio)
Actinopterygii clcn7 35
  • 71.13 (n)
  • 77.62 (a)
clcn7 36
  • 77 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007499 35
  • 58.32 (n)
  • 52.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta ClC-b 35
  • 55.54 (n)
  • 51.52 (a)
ClC-b 36
  • 47 (a)
OneToOne
CG8594 37
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea clh-6 35
  • 50.7 (n)
  • 50.34 (a)
clh-6 36
  • 46 (a)
OneToOne
clh-6 37
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEF1 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CLC-C 35
  • 45.94 (n)
  • 37.24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToOne
Species with no ortholog for CLCN7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLCN7 Gene

ENSEMBL:
Gene Tree for CLCN7 (if available)
TreeFam:
Gene Tree for CLCN7 (if available)

Paralogs for CLCN7 Gene

Paralogs for CLCN7 Gene

Selected SIMAP similar genes for CLCN7 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CLCN7: view

Variants for CLCN7 Gene

Sequence variations from dbSNP and Humsavar for CLCN7 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs742408 -- 1,449,376(+) CCAAA(C/T)CCACC intron-variant
rs742409 -- 1,449,616(+) CACCG(C/T)CCAGC intron-variant
rs742410 -- 1,449,703(+) GAGGC(C/T)GCAGA intron-variant
rs960467 -- 1,475,178(+) CCCGC(C/T)CTAGA upstream-variant-2KB
rs970831 -- 1,475,437(+) AGGCC(C/T)TTCCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CLCN7 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv471066 CNV Loss 18288195
dgv2505n71 CNV Loss 21882294
dgv2525n71 CNV Loss 21882294
nsv904950 CNV Loss 21882294
nsv904954 CNV Loss 21882294
dgv2527n71 CNV Loss 21882294
dgv2528n71 CNV Loss 21882294
dgv2529n71 CNV Loss 21882294
dgv2530n71 CNV Loss 21882294
dgv2531n71 CNV Loss 21882294
nsv904991 CNV Loss 21882294
nsv457331 CNV Loss 19166990
nsv904993 CNV Gain 21882294
nsv819844 CNV Gain 19587683
nsv819259 CNV Gain 19587683
dgv2532n71 CNV Loss 21882294
dgv2533n71 CNV Loss 21882294
dgv2534n71 CNV Loss 21882294
nsv817713 CNV Loss 17921354
nsv905003 CNV Loss 21882294
nsv905004 CNV Loss 21882294
nsv471068 CNV Gain 18288195
esv1010408 CNV Insertion 20482838
esv2676983 CNV Deletion 23128226
esv2750343 CNV Deletion 23290073
dgv2535n71 CNV Loss 21882294
esv28902 CNV Loss 19812545
esv2750344 CNV Deletion 23290073
esv1712114 CNV Deletion 17803354
esv2740712 CNV Deletion 23290073
esv2743238 CNV Deletion 23290073
nsv525102 CNV Loss 19592680
nsv905007 CNV Gain 21882294
nsv827494 CNV Gain 20364138
nsv827495 CNV Gain 20364138

Relevant External Links for CLCN7 Gene

HapMap Linkage Disequilibrium report
CLCN7
Human Gene Mutation Database (HGMD)
CLCN7
Locus Specific Mutation Databases (LSDB)
CLCN7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN7 Gene

Disorders for CLCN7 Gene

(2) OMIM Diseases for CLCN7 Gene (602727)

UniProtKB/Swiss-Prot

CLCN7_HUMAN
  • Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269 PubMed:11207362, ECO:0000269 PubMed:11741829, ECO:0000269 PubMed:14584882, ECO:0000269 PubMed:17033731, ECO:0000269 PubMed:19953639}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. {ECO:0000269 PubMed:11741829, ECO:0000269 PubMed:14584882, ECO:0000269 PubMed:19953639}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CLCN7 Gene

(5) Novoseek inferred disease relationships for CLCN7 Gene

Disease -log(P) Hits PubMed IDs
osteopetrosis, autosomal dominant, type ii 98.3 5
osteopetrosis 93.1 15
osteopetrosis, autosomal recessive 89.5 1
bone diseases 61.6 2
neurodegeneration 26.9 1

Relevant External Links for CLCN7

GeneTests
CLCN7
GeneReviews
CLCN7
Genetic Association Database (GAD)
CLCN7
Human Genome Epidemiology (HuGE) Navigator
CLCN7
genes like me logo Genes that share disorders with CLCN7: view

Publications for CLCN7 Gene

  1. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. (PMID: 11741829) Cleiren E. … Van Hul W. (Hum. Mol. Genet. 2001) 3 4 23
  2. Polymorphisms of the CLCN7 gene are associated with BMD in women. (PMID: 16234969) Pettersson U. … Ralston S.H. (J. Bone Miner. Res. 2005) 3 23 48
  3. Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. (PMID: 16368748) Kornak U. … de Vernejoul M.C. (J. Clin. Endocrinol. Metab. 2006) 3 23 48
  4. CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. (PMID: 18755304) Chu K. … Econs M.J. (Bone 2008) 3 23 48
  5. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. (PMID: 19953639) Pangrazio A. … Sobacchi C. (Hum. Mutat. 2010) 3 4 23

Products for CLCN7 Gene

Sources for CLCN7 Gene

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