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 hyperparathyroidism, neonatal and hypocalcemia, autosomal dominant. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and phosphatidylinositol phospholipase C activity.
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
Activation of an ERK signaling pathway often involves regulation of cell division, migration and survival; dysregulation of these pathways has been associated with various diseases, including cancer. ERK signaling has also been linked to the positive regulation of synaptic plasticity and long-term potentiation (LTP).