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Tchem
CLCN7
H(+)/Cl(-) exchange transporter 7

Protein Summary
Description
Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000382745
  • ENSP00000372193
  • ENSG00000103249
  • ENST00000448525
  • ENSP00000410907

Symbol
  • CLC7
  • CLC-7
  • OPTA2
  • OPTB4
  • PPP1R63
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
1
histone modification site profile
0.78
disease perturbation
0.74
transcription factor perturbation
0.74
interacting protein
0.71


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 152.74   (req: < 5)
Gene RIFs: 33   (req: <= 3)
Antibodies: 186   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 152.74   (req: >= 5)
Gene RIFs: 33   (req: > 3)
Antibodies: 186   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 3
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Protein-Protein Interactions (76)
OSTM1
Tbio
Novelty:  0.03033192
p_int:  0.999999963
p_ni:  3.7e-8
Score:  0.996
Data Source:  BioPlex,Reactome,STRINGDB
MBLAC2
Tdark
Family:  Enzyme
Novelty:  0.47407992
p_int:  0.999999154
p_ni:  8.46e-7
Score:  0.16
Data Source:  BioPlex,STRINGDB
MANSC1
Tdark
Novelty:  0.91681036
p_int:  0.9999871
p_ni:  0.0000129
Data Source:  BioPlex
FAM177A1
Tdark
Novelty:  0.31314275
p_int:  0.999848897
p_ni:  0.000151103
Data Source:  BioPlex
LGALS8
Tchem
Novelty:  0.00623836
p_int:  0.999507237
p_ni:  0.000492751
p_wrong:  1.2e-8
Data Source:  BioPlex
CYB5B
Tbio
Novelty:  0.09395308
p_int:  0.998434074
p_ni:  0.001565696
p_wrong:  2.3e-7
Data Source:  BioPlex
RXFP1
Tchem
Family:  GPCR
Novelty:  0.00580827
p_int:  0.997889361
p_ni:  0.002108475
p_wrong:  0.000002164
Data Source:  BioPlex
MCOLN3
Tchem
Family:  IC
Novelty:  0.03209262
p_int:  0.996337008
p_ni:  0.003662986
p_wrong:  6e-9
Score:  0.364
Data Source:  BioPlex,STRINGDB
LYPD3
Tbio
Novelty:  0.03248533
p_int:  0.992870113
p_ni:  0.007129743
p_wrong:  1.44e-7
Data Source:  BioPlex
CD44
Tbio
Novelty:  0.00011321
p_int:  0.98995442
p_ni:  0.010005308
p_wrong:  0.000040272
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (3)
Ion channel transport (R-HSA-983712)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Ion channel transport
Reactome
Stimuli-sensing channels
Reactome
Transport of small molecules
Name
Explore in Pharos
Explore in Source
Ion channel transport
Stimuli-sensing channels
Transport of small molecules
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
IGF-1 measurement
1
2
2
74.7
heel bone mineral density
2
2
2
58.9
inflammatory biomarker measurement
1
1
0
50.6
56.4
femoral neck bone mineral density
1
1
1
24.3
1
1
1
17.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
IGF-1 measurement
2
74.7
heel bone mineral density
2
58.9
inflammatory biomarker measurement
0
50.6
56.4
femoral neck bone mineral density
1
24.3
1
17.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
chloride voltage-gated channel 7
VGNC:8967
453817
Macaque
chloride voltage-gated channel 7
100429296
Mouse
MGI:1347048
26373
Rat
RGD:61836
29233
Dog
chloride voltage-gated channel 7
VGNC:39307
479889
Species
Name
OMA
EggNOG
Inparanoid
Chimp
chloride voltage-gated channel 7
Macaque
chloride voltage-gated channel 7
Mouse
Rat
Dog
chloride voltage-gated channel 7
Publication Statistics
PubMed Score 152.74
PubMed score by year
PubTator Score 87.33
PubTator score by year
Patents
Patents by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title