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Gene : CASR Homo sapiens

Name  ? calcium sensing receptor Cytological Location  3q13.33-q21.1
Brief Description  calcium sensing receptor
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. [provided by RefSeq, Aug 2017]
  • synonyms:
  • EIG8,
  • HGNC:1514,
  • OTTHUMG00000159491,
  • NSHPT,
  • NM_000388,
  • FIH,
  • HHC1,
  • CAR,
  • HHC,
  • HHC,
  • hypocalciuric hypercalcemia 1,
  • CASR,
  • HYPOC1,
  • GPRC2A,
  • U20760,
  • PCAR1,
  • GPRC2A,
  • hCasR,
  • uc003eev.5,
  • calcium-sensing receptor,
  • severe neonatal hyperparathyroidism,
  • FHH,
  • HHC1,
  • FHH,
  • identifiers:
  • 846,
  • ENSG00000036828,
  • CASR

Genome feature

Region: gene ? Length: 107962  
Location: 3:122183668-122291629 Cyto location: 3q13.33-q21.1

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4 Diseases

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16 SNPs

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results