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Description for Protein CASR

calcium-sensing receptor
10 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • AAA: ATPases associated with a variety of cellular activities
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04612
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Parathyroid Ca(2+) sensing receptor 1; Extracellular calcium sensing receptor; Parathyroid cell calcium sensing receptor; GPRC2A; PCAR1; HHC1; FHH; NSHPT; CaR
    Approved Symbol:
    CASR
    (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):

  • Cinacalcet(db)

    Associated Genetic Diseases:

  • Calcium, serum levels of(Pd);
  • Hypercalciuric hypercalcemia(Pd);
  • Hypercalciuric hypocalcemia, familial(Pd);
  • Hyperparathyroidism, neonatal severe primary(Pd);
  • Hypocalcemia, autosomal dominant, with Bartter syndrome(Pd);
  • Hypocalciuric hypercalcemia(Pd);
  • Hypocalciuric hypercalcemia, familial(Pd);
  • Hypoparathyroidism, familial(Pd);
  • Hypoparathyroidism, familial isolated(Pd);
  • Hypoparathyroidism, sporadic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 7
    • Additional Identifiers:

    HPRD: 03122 Entrez Gene ID: 846 OMIM ID: 601199 Swissprot Accession: P41180;