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Gene Symbol |
CASR |
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Aliases |
CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1, hCasR |
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Entrez Gene ID |
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Gene Name |
Calcium sensing receptor |
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Chromosomal Location |
3q13.33-q21.1 |
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HGNC ID |
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Summary |
The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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SNPs
SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
rs1801725 |
TGAGCTTTGATGAGCCTCAGAAGAAC |
G/T |
CCATGGCCCACAGGAATTCTACGCA |
A986S |
21082232 | |
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Gene Ontology (GO)
GO ID |
Ontology |
Function |
Evidence |
Reference |
GO:0005513 |
Biological process |
Detection of calcium ion |
IBA |
21873635 |
GO:0005513 |
Biological process |
Detection of calcium ion |
IDA |
27434672 |
GO:0006874 |
Biological process |
Cellular calcium ion homeostasis |
IBA |
21873635 |
GO:0006874 |
Biological process |
Cellular calcium ion homeostasis |
IDA |
27434672 |
GO:0007186 |
Biological process |
G protein-coupled receptor signaling pathway |
IDA |
27434672 |
GO:0007186 |
Biological process |
G protein-coupled receptor signaling pathway |
IMP |
8636323, 8702647, 8878438, 17555508, 19789209, 21566075, 22789683, 23169696, 23966241, 25104082, 25292184, 25766501, 26386835 |
GO:0007635 |
Biological process |
Chemosensory behavior |
TAS |
7759551 |
GO:0009653 |
Biological process |
Anatomical structure morphogenesis |
TAS |
7916660 |
GO:0051924 |
Biological process |
Regulation of calcium ion transport |
IBA |
21873635 |
GO:0070509 |
Biological process |
Calcium ion import |
IDA |
20846291 |
GO:0005887 |
Cellular component |
Integral component of plasma membrane |
IBA |
21873635 |
GO:0005887 |
Cellular component |
Integral component of plasma membrane |
IDA |
8702647, 16740594, 17555508, 19789209, 22789683, 25104082, 25766501, 26386835 |
GO:0004435 |
Molecular function |
Phosphatidylinositol phospholipase C activity |
TAS |
7874174 |
GO:0004930 |
Molecular function |
G protein-coupled receptor activity |
IBA |
21873635 |
GO:0004930 |
Molecular function |
G protein-coupled receptor activity |
IDA |
27434672 |
GO:0005509 |
Molecular function |
Calcium ion binding |
IBA |
21873635 |
GO:0005509 |
Molecular function |
Calcium ion binding |
IDA |
27434672 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
20361938 |
GO:0016597 |
Molecular function |
Amino acid binding |
IDA |
27434672 |
GO:0038023 |
Molecular function |
Signaling receptor activity |
IBA |
21873635 |
GO:0042803 |
Molecular function |
Protein homodimerization activity |
IDA |
16740594, 27434672 |
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Protein Information |
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Protein Name |
Extracellular calcium-sensing receptor, parathyroid Ca(2+)-sensing receptor 1, parathyroid cell calcium-sensing receptor 1 |
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Function |
G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation |
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UniProt |
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PDB |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000221496 |
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P03971 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Cardiomyopathy |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Genetic Diseases |
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Endocrine System Diseases |
Hyperparathyroidism |
6543841, 8675635, 9253359, 15572418, 7791841, 9011580, 7054696, 11231970, 7916660, 15292296, 17555508, 8878438, 14985373, 27434672, 11589681 |
Hypoparathyroidism |
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PCOS |
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Neoplasms |
Parathyroid Cancer |
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Nutritional and Metabolic Diseases |
Hypocalciuric hypercalcemia |
17473068, 17698911, 7726161, 7673400, 23966241, 16598859, 19789209, 26386835, 19179454, 9298824, 22114145, 25292184, 11762699, 8636323, 8702647, 23169696, 25104082, 7916660, 21643651, 21566075, 15579740, 15879434, 27434672, 8878438, 16740594, 15572418, 19073830 |
Hypercalcemia |
28492532, 18887540, 14089114, 7874174, 11668634, 27666534, 22422767, 11231970, 25091521, 7916660, 6543841, 17473068, 9011580, 17698911, 8702647, 15292296, 19759318, 15879434, 7054696, 7673400, 20972686, 791660, 22798347, 12095982, 15579740, 7791841, 21289269, 10468915, 24203066, 1575, 25741868 |
Hypocalcemia |
8878438, 12915654, 8733126, 8813042, 7874174, 12050233, 9661634, 19179454, 9920108, 12107202, 10487661, 16608894, 12241879, 12574188, 22789683, 15551332, 25766501, 23169696, 8702647, 9253358, 23966241, 15005845, 12191970, 11152759, 17048213, 11134112, 19759318, 12114500, 21289269, 17284438, 26161261, 22422767, 21645025, 24203066, 28492532, 8698326, 26963950, 24297799, 20972686, 25091521, 9011580, 8 |
Milk-Alkali Syndrome |
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Psychiatric/Brain disorders |
Intellectual Disability |
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Renal Disorder |
Kidney Calculi |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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VDR |
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NICHD criteria |
Related
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56 Iranian PCOS women |
This data indicated for the first time that it is possible that the VDR and CASR gene variants through their effects on LH and SHBG levels, and insulin resistance are involved in pathogenesis of PCOS |
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