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14-September-2008 18:02:41 - Calcium-sensing receptor Calcium-sensing receptor hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism Identifiers Symbols CASR; CAR; FHH; FIH; GPRC2A; HHC; HHC1; MGC138441; NSHPT; PCAR1 External IDs OMIM: 601199 MGI: 1351351 HomoloGene: 332 Gene ontology Molecular function: phosphoinositide phospholipase C activity receptor activity metabotropic glutamate, GABA-B-like receptor activity Cellular component: plasma membrane integral to plasma membrane Biological process: ossification detection of calcium ion cellular calcium ion homeostasis signal transduction G-protein coupled receptor protein signaling pathway chemosensory behavior anatomical structure morphogenesis RNA expression pattern More reference expression data Orthologs Human Mouse Entrez 846 12374 Ensembl ENSG00000036828 ENSMUSG00000051980 Uniprot P41180 O88982 Refseq NM_000388 mRNA NP_000379 protein NM_013803 mRNA NP_038831 protein Location Chr 3: 123.39 - 123.49 Mb Chr 16: 36.41 - 36.48 Mb Pubmed search 1 2 The calcium-sensing receptor CaSR is a G-protein coupled receptor which senses extracellular levels of calcium ion. In the parathyroid gland, the calcium-sensing receptor controls calcium homeostasis by regulating the release of parathyroid hormone.1 Contents 1 Pathology 2 Therapeutic application 3 References 4 Further reading 5 External links Pathology Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia FHH,2 whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia.3 An alternatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.4 Therapeutic application The drug cinacalcet is an allosteric modifier of the calcium-sensing receptor.5 References ^ D'Souza-Li L 2006. The calcium-sensing receptor and related diseases. Arquivos brasileiros de endocrinologia e metabologia 50 4: 628-39. doi:10.1590/S0004-27302006000400008. PMID 17117288. ^ Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN 2005. Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. Hum. Mol. Genet. 14 12: 1679-90. doi:10.1093/hmg/ddi176. PMID 15879434. ^ Mancilla EE, De Luca F, Baron J 1998. Activating mutations of the Ca2+-sensing receptor. Mol. Genet. Metab. 64 3: 198-204. doi:10.1006/mgme.1998.2716. PMID 9719629. ^ Entrez Gene: CASR calcium-sensing receptor hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism. ^ Torres PU 2006. Cinacalcet HCl: a novel treatment for secondary hyperparathyroidism caused by chronic kidney disease. Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation 16 3: 253-8. doi:10.1053/j.jrn.2006.04.010. PMID 16825031. Further reading Hendy GN, D'Souza-Li L, Yang B, et al. 2000. Mutations of the calcium-sensing receptor CASR in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.. Hum. Mutat. 16 4: 281-96. doi:10.1002/1098-100420001016:4281::AID-HUMU13.0.CO;2-A. PMID 11013439. Fukumoto S 2002. Calcium-sensing receptor in bone cells. Nippon Rinsho 60 Suppl 3: 57-63. PMID 11979955. Tfelt-Hansen J, Schwarz P, Brown EM, Chattopadhyay N 2004. The calcium-sensing receptor in human disease.. Front. Biosci. 8: s377-90. PMID 12700051. Hu J, Spiegel AM 2004. Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function.. Trends Endocrinol. Metab. 14 6: 282-8. PMID 12890593. Aida K, Koishi S, Inoue M, et al. 1995. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca2+-sensing receptor gene.. J. Clin. Endocrinol. Metab. 80 9: 2594-8. PMID 7673400. Aida K, Koishi S, Tawata M, Onaya T 1995. Molecular cloning of a putative Ca2+-sensing receptor cDNA from human kidney.. Biochem. Biophys. Res. Commun. 214 2: 524-9. doi:10.1006/bbrc.1995.2318. PMID 7677761. Chou YH, Pollak MR, Brandi ML, et al. 1995. Mutations in the human Ca2+-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.. Am. J. Hum. Genet. 56 5: 1075-9. PMID 7726161. Garrett JE, Capuano IV, Hammerland LG, et al. 1995. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.. J. Biol. Chem. 270 21: 12919-25. PMID 7759551. Pollak MR, Brown EM, Estep HL, et al. 1995. Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation.. Nat. Genet. 8 3: 303-7. doi:10.1038/ng1194-303. PMID 7874174. Pollak MR, Brown EM, Chou YH, et al. 1994. Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.. Cell 75 7: 1297-303. PMID 7916660. Janicic N, Soliman E, Pausova Z, et al. 1996. Mapping of the calcium-sensing receptor gene CASR to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.. Mamm. Genome 6 11: 798-801. PMID 8597637. Bikle DD, Ratnam A, Mauro T, et al. 1996. Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor.. J. Clin. Invest. 97 4: 1085-93. PMID 8613532. Pearce SH, Trump D, Wooding C, et al. 1996. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.. J. Clin. Invest. 96 6: 2683-92. PMID 8675635. Bai M, Quinn S, Trivedi S, et al. 1996. Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.. J. Biol. Chem. 271 32: 19537-45. PMID 8702647. Baron J, Winer KK, Yanovski JA, et al. 1997. Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.. Hum. Mol. Genet. 5 5: 601-6. PMID 8733126. Freichel M, Zink-Lorenz A, Holloschi A, et al. 1996. Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion.. Endocrinology 137 9: 3842-8. PMID 8756555. Chattopadhyay N, Ye C, Singh DP, et al. 1997. Expression of extracellular calcium-sensing receptor by human lens epithelial cells.. Biochem. Biophys. Res. Commun. 233 3: 801-5. doi:10.1006/bbrc.1997.6553. PMID 9168937. Cole DE, Janicic N, Salisbury SR, Hendy GN 1997. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.. Am. J. Med. Genet. 71 2: 202-10. PMID 9217223. Ward BK, Stuckey BG, Gutteridge DH, et al. 1997. A novel mutation L174R in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.. Hum. Mutat. 10 3: 233-5. doi:10.1002/SICI1098-1004199710:3233::AID-HUMU93.0.CO;2-J. PMID 9298824. Quinn SJ, Kifor O, Trivedi S, et al. 1998. Sodium and ionic strength sensing by the calcium receptor.. J. Biol. Chem. 273 31: 19579-86. PMID 9677383. External links IUPHAR GPCR Database - Calcium-sensing receptors MeSH Receptors,+Calcium-Sensing MeSH CASR+protein This transmembrane receptor-related article is a stub. v d e Transmembrane receptor: G protein-coupled receptors Class A: Rhodopsin like Adrenergic α1 A, B, D, α2 A, B, C, β1, β2, β3 Eicosanoid CysLT 1, 2, LTB4 1, 2, FPRL1, OXE, Prostaglandin DP, EP 1, 2, 3, 4, PGF, Prostacyclin, Thromboxane Neuropeptide B/W 1, 2, FF 1, 2, S, Y 1, 2, 4, 5 Orphan GPR 1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 79, 82, 83, 84, 85, 87, 88, 92, 101, 103, 119, 120, 132, 135, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 172, 173, 174, 176, 177, 182 Purinergics Adenosine A1, A2a, A2b, A3, P2Y, 1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14 Serotonin all but 5-HT3 5-HT1 A, B, D, E, F, 5-HT2 A, B, C, 5-HT 4, 5A, 6, 7 Other Acetylcholine M1, M2, M3, M4, M5 - Adrenomedullin - Anaphylatoxin C3a, C5a - Angiotensin 1, 2 - Apelin - Bile acid - Bombesin BRS3, GRPR, NMBR - Bradykinin B1, B2 - Cannabinoid CB1, CB2 - Chemokine - Cholecystokinin A, B - Dopamine D1, D2, D3, D4, D5 - EBI2 - Endothelin A, B - Estrogen - Formyl peptide 1, L1, L2 - Free fatty acid 1, 2, 3, 4 - FSH - Galanin 1, 2, 3 - Gonadotropin-releasing hormone 1, 2 - Ghrelin - Histamine H1, H2, H3, H4 - Kisspeptin - Luteinizing hormone/choriogonadotropin - Lysophospholipid 1, 2, 3, 4, 5, 6, 7, 8 - MAS 1, 1L, D, E, F, G, X1, X2, X3, X4 - Melanocortin 1, 2, 3, 4, 5 - MCHR 1, 2 - Melatonin 1A, 1B- Motilin - neuromedin B, U 1, 2 - Neurotensin 1, 2 - Opioid Delta, Kappa, Mu, Nociceptin, but not Sigma - Olfactory - Opsin 3, 4, 5, 1LW, 1MW, 1SW, RGR, RRH - Orexin 1, 2 - Oxytocin - Oxoglutarate - PAF - Prokineticin 1, 2 - Prolactin-releasing peptide - Protease-activated 1, 2, 3, 4 - Relaxin 1, 2, 3, 4 - Somatostatin 1, 2, 3, 4, 5 - SREB - Succinate - TAAR 1, 2, 3, 5, 6, 8, 9 - Tachykinin 1, 2, 3 - Thyrotropin - Thyrotropin-releasing hormone - Urotensin-II - Vasopressin 1A, 1B, 2 Class B: Secretin like Brain-specific angiogenesis inhibitor 1, 2, 3 - Cadherin 1, 2, 3 - Calcitonin - CD97 - Corticotropin-releasing hormone 1, 2 - EMR 1, 2, 3 - Glucagon GR, GIPR, GLP1R, GLP2R - Growth hormone releasing hormone - PACAPR1- GPR 56, 64, 97, 98, 110, 111, 112, 113, 114, 115, 116, 123, 124, 125, 126, 128, 133, 143, 144, 157 - Latrophilin 1, 2, 3, ELTD1 - Parathyroid hormone 1, 2 - Secretin - Vasoactive intestinal peptide 1, 2 Class C: Metabotropic glutamate / pheromone Calcium-sensing receptor - GABA B 1, 2 - Glutamate receptor Metabotropic glutamate 1, 2, 3, 4, 5, 6, 7, 8 - GPRC6A - GPR 156, 158, 179 - RAIG 1, 2, 3, 4 - Taste receptors TAS1R 1, 2, 3 TAS2R 1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 38, 39, 40, 41, 43, 44, 45, 46, 47, 48, 49, 50 Frizzled / Smoothened Frizzled 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 - Smoothened Retrieved from http://en..org/wiki/Calcium-sensing_receptor Categories: Genes on chromosome 3 | Human proteins | Transmembrane receptor stubs | G protein coupled receptorsHidden category: Protein pages needing a picture Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages 日本語 This page was last modified on 30 July 2008, at 23:54
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