Aliases for CASR Gene
External Ids for CASR Gene
Previous HGNC Symbols for CASR Gene
Previous GeneCards Identifiers for CASR Gene
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, Jul 2008]
GeneCards Summary for CASR Gene
CASR (Calcium Sensing Receptor) is a Protein Coding gene. Diseases associated with CASR include Hypocalcemia, Autosomal Dominant and Hyperparathyroidism, Neonatal. Among its related pathways are Proton Pump Inhibitor Pathway, Pharmacodynamics and RET signaling. GO annotations related to this gene include G-protein coupled receptor activity and protein kinase binding. An important paralog of this gene is GPRC6A.
UniProtKB/Swiss-Prot for CASR Gene
Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.
The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that senses extracellular Ca2+. The CaSR has wide tissue expression being found in the parathyroid gland, thyroid, kidney, intestine, skin, brain, heart, pancreas, bone and lung.