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Description for Protein CLCN7

chloride channel 7
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
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] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CBS: Domain in cystathionine beta-synthase and other proteins.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05016
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    CLC7; ClC 7; OPTA2; Chloride channel protein 7
    Approved Symbol:
    CLCN7
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Osteopetrosis, autosomal dominant, type II(Pd);
  • Osteopetrosis, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
    04103_2(11)
    04103_1(11)
    Additional Identifiers:

    HPRD: 04103 Entrez Gene ID: 1186 OMIM ID: 602727 Swissprot Accession: B3KVJ8; P51798; B3KXZ3;