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Tbio
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: 168.85   (req: < 5)
Gene RIFs: 46   (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: 168.85   (req: >= 5)
Gene RIFs: 46   (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