Calcium-Sensing Receptor

Alternative Names

  • CASR
  • Parathyroid Ca(2+)-Sensing Receptor 1
  • PCAR1
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OMIM Number

601199

NCBI Gene ID

846

Uniprot ID

P41180

Length

107,962 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Extracellular calcium-sensing receptor

Molecular Mass

120675 Da

Amino Acid Count

1078

Genomic Location

chr3:122,183,667-122,291,628

Gene Map Locus
3q13.33-q21.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000388.3:c.1861G>AUnited Arab EmiratesNC_000003.12:g.122283815G>AUncertain SignificanceUncertain SignificanceNG_009058.1:g.105133G>A; NM_000388.3:c.1861G>A; NP_000379.2:p.Val621Met751538967660430
NM_000388.3:c.2956G>TUnited Arab EmiratesNC_000003.12:g.122284910G>TBenignNG_009058.1:g.106228G>T; NM_000388.3:c.2956G>T; NP_000379.2:p.Ala986Ser18017258349
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