AAI12237.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
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NCBI Official Full Name
Calcium-sensing receptor
NCBI Official Synonym Full Names
calcium-sensing receptor
NCBI Official Synonym Symbols
CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; GPRC2A; HYPOC1 [Similar Products]
NCBI Protein Information
extracellular calcium-sensing receptor; parathyroid Ca(2+)-sensing receptor 1; parathyroid cell calcium-sensing receptor
UniProt Protein Name
Extracellular calcium-sensing receptor
UniProt Synonym Protein Names
Parathyroid cell calcium-sensing receptor
UniProt Synonym Gene Names
UniProt Entry Name
CASR_HUMAN
NCBI Summary for CASR
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]
UniProt Comments for CASR
Function: 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.
Subunit structure: Interacts with VCP and RNF19A. Interacts with ARRB1
By similarity. Ref.9
Subcellular location: Cell membrane; Multi-pass membrane protein.
Tissue specificity: Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta. Ref.43
Post-translational modification: N-glycosylated. Ref.9Ubiquitinated by RNF19A; which induces proteasomal degradation. Ref.9
Involvement in disease: Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.10 Ref.12 Ref.17 Ref.26 Ref.34 Ref.37 Ref.38 Ref.39 Ref.41 Ref.42 Ref.45Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]: A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.19 Ref.38Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]: A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.15 Ref.16 Ref.18 Ref.20 Ref.22 Ref.23 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.36 Ref.40Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.43Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations.
Sequence similarities: Belongs to the G-protein coupled receptor 3 family.
Research Articles on CASR
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Products associated with anti-CASR antibody
Pathways associated with anti-CASR antibody
Diseases associated with anti-CASR antibody
Organs/Tissues associated with anti-CASR antibody
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