CASR calcium sensing receptor
Gene ID: 846, updated on 11-Apr-2024Gene type: protein coding
Also known as: CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; hCasR; GPRC2A; HYPOC1
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- Go to complete Gene record for CASR
- Go to Variation Viewer for CASR variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. GeneReviews: Not available | |
| Autosomal dominant hypocalcemia 1 | See labs |
| Common genetic variants associate with serum phosphorus concentration. GeneReviews: Not available | |
| Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. GeneReviews: Not available | |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | See labs |
| Familial hypocalciuric hypercalcemia 1 | See labs |
| Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. GeneReviews: Not available | |
| Neonatal severe primary hyperparathyroidism | See labs |
Genomic context
- Location:
- 3q13.33-q21.1
- Sequence:
- Chromosome: 3; NC_000003.12 (122183668..122291629)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CASR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CASR database
- CASRdb Calcium Sensing Receptor Locus Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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