Calcium-sensing receptor: Difference between revisions

CASR
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5FBH, 5FBK, 7DTT, 7SIN, 7DD6, 7DTW
Identifiers
Aliases	CASR, CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1, calcium sensing receptor, hCasR, Calcium-sensing receptor+CaSR
External IDs	OMIM: 601199; MGI: 1351351; HomoloGene: 332; GeneCards: CASR; OMA:CASR - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	122,291,629 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	36,382,503 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; body of pancreas; ; human kidney; ; buccal mucosa cell; ; pancreatic ductal cell; ; gallbladder; ; renal medulla; ; kidney tubule; ; duodenum; ; liver;
	Top expressed in
	muscle of thigh; ; sternocleidomastoid muscle; ; right kidney; ; outer renal medulla; ; human kidney; ; distal tubule; ; triceps brachii muscle; ; islet of Langerhans; ; quadriceps femoris muscle; ; vastus lateralis muscle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; signal transducer activity; phosphatidylinositol phospholipase C activity; G protein-coupled receptor activity; amino acid binding; protein homodimerization activity; metal ion binding; magnesium ion binding; calcium ion binding; polyamine binding; integrin binding; protein kinase binding; transmembrane transporter binding; signaling receptor activity;
Cellular component	integral component of membrane; plasma membrane; membrane; integral component of plasma membrane; nucleus; cytoplasm; cell surface; basolateral plasma membrane; apical plasma membrane; axon; neuron projection; soma; axon terminus;
Biological process	chemosensory behavior; calcium ion import; anatomical structure morphogenesis; signal transduction; detection of calcium ion; G protein-coupled receptor signaling pathway; ossification; response to ischemia; calcium ion transport; cellular calcium ion homeostasis; apoptotic process; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; phospholipase C-activating G protein-coupled receptor signaling pathway; JNK cascade; positive regulation of cell population proliferation; response to metal ion; positive regulation of gene expression; response to organic cyclic compound; positive regulation of insulin secretion; positive regulation of ATP-dependent activity; cellular response to hepatocyte growth factor stimulus; vasodilation; positive regulation of vasoconstriction; branching morphogenesis of an epithelial tube; positive regulation of positive chemotaxis; response to calcium ion; regulation of calcium ion transport; fat pad development; cellular response to vitamin D; cellular response to glucose stimulus; cellular response to low-density lipoprotein particle stimulus; cellular response to hypoxia; response to fibroblast growth factor; positive regulation of calcium ion import; cellular response to peptide; bile acid secretion; chloride transmembrane transport; positive regulation of ERK1 and ERK2 cascade;
	Sources:Amigo / QuickGO
Orthologs
	846
	12374
	ENSG00000036828
	ENSMUSG00000051980
	P41180
	Q9QY96
	NM_000388; NM_001178065
	NM_013803
	NP_000379; NP_001171536
	NP_038831
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 23:50, 18 March 2008

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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.^[5]

Pathology

Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia (FHH),^[6] whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia.^[7] An alternatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.^[8]

Therapeutic application

The drug cinacalcet is an allosteric modifier of the calcium-sensing receptor.^[9]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000036828 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000051980 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ "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.

External links

IUPHAR GPCR Database - Calcium-sensing receptors
Receptors,+Calcium-Sensing at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
CASR+protein at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000036828 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000051980 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid17117288-5] 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.

[pmid15879434-6] 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[pmid9719629-7] 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[8] "Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)".

[pmid16825031-9] 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.

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 }}
-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]].<ref name="pmid17117288">{{cite journal | author = D'Souza-Li L | title = The calcium-sensing receptor and related diseases | journal = Arquivos brasileiros de endocrinologia e metabologia | volume = 50 | issue = 4 | pages = 628-39 | year = 2006 | pmid = 17117288 | doi = | issn = | url = http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302006000400008&nrm=iso }}</ref>
+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]].<ref name="pmid17117288">{{cite journal | author = D'Souza-Li L | title = The calcium-sensing receptor and related diseases | journal = Arquivos brasileiros de endocrinologia e metabologia | volume = 50 | issue = 4 | pages = 628-39 | year = 2006 | pmid = 17117288 | doi = 10.1590/S0004-27302006000400008 | issn = }}</ref>
 ==Pathology==
-Mutations that inactivate CASR cause '''familial hypocalciuric [[hypercalcemia]]''' (FHH),<ref name="pmid15879434">{{cite journal | author = Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN | title = Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia | journal = Hum. Mol. Genet. | volume = 14 | issue = 12 | pages = 1679–90 | year = 2005 | pmid = 15879434 | doi = 10.1093/hmg/ddi176 | issn = }}</ref> whereas mutations that activate CASR are the cause of autosomal dominant [[hypocalcemia]].<ref name="pmid9719629">{{cite journal | author = Mancilla EE, De Luca F, Baron J | title = Activating mutations of the Ca2+-sensing receptor | journal = Mol. Genet. Metab. | volume = 64 | issue = 3 | pages = 198–204 | year = 1998 | pmid = 9719629 | doi = 10.1006/mgme.1998.2716 | issn = }}</ref> An [[alternative splicing|alternatively spliced]] transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.<ref>{{cite web | title = Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=846| accessdate = }}</ref>
+Mutations that inactivate CASR cause '''familial hypocalciuric [[hypercalcemia]]''' (FHH),<ref name="pmid15879434">{{cite journal | author = Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN | title = Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia | journal = Hum. Mol. Genet. | volume = 14 | issue = 12 | pages = 1679–90 | year = 2005 | pmid = 15879434 | doi = 10.1093/hmg/ddi176 | issn = }}</ref> whereas mutations that activate CASR are the cause of autosomal dominant [[hypocalcemia]].<ref name="pmid9719629">{{cite journal | author = Mancilla EE, De Luca F, Baron J | title = Activating mutations of the Ca<sup>2+</sup>-sensing receptor | journal = Mol. Genet. Metab. | volume = 64 | issue = 3 | pages = 198–204 | year = 1998 | pmid = 9719629 | doi = 10.1006/mgme.1998.2716 | issn = }}</ref> An [[alternative splicing|alternatively spliced]] transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.<ref>{{cite web | title = Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=846| accessdate = }}</ref>
 ==Therapeutic application==

Revision as of 23:50, 18 March 2008

Pathology

Therapeutic application

References

Further reading

External links