CASR

Gene Information
 
Gene Symbol
CASR
 
Aliases
CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1, hCasR
 
Entrez Gene ID
846
 
Gene Name
Calcium sensing receptor
 
Chromosomal Location
3q13.33-q21.1
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs1801725 TGAGCTTTGATGAGCCTCAGAAGAAC
G/T
CCATGGCCCACAGGAATTCTACGCA A986S 21082232

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
Protein Information
 
Protein Name
Extracellular calcium-sensing receptor, parathyroid Ca(2+)-sensing receptor 1, parathyroid cell calcium-sensing receptor 1
 
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
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00003 7tm_3
PF01094 ANF_receptor
PF07562 NCD3G
Pathways
 
KEGG
 
Reactome
 

NOD-like receptor signaling pathway
Parathyroid hormone synthesis, secretion and action

 

G alpha (q) signalling events
G alpha (i) signalling events
Class C/3 (Metabotropic glutamate/pheromone receptors)

Interactions
 
STRING MINT IntAct
ENSP00000221496 P03971
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Cardiomyopathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases
Endocrine System Diseases
Hyperparathyroidism
Hypoparathyroidism
PCOS
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
VDR 
 
 
NICHD criteria 
Related 
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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