Gene Facts External Data Attribution

HGNC Symbol
CASR (HGNC:1514) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
calcium sensing receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HHC, HHC1
Alias symbols
FHH, NSHPT, GPRC2A
%HI
3.37(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.05(Read more about gnomAD pLI score)
LOEUF
0.45(Read more about gnomAD LOEUF score)
Cytoband
3q13.33-q21.1
Genomic Coordinates
GRCh37/hg19: chr3:121902515-122010476 NCBI Ensembl UCSC
GRCh38/hg38: chr3:122183668-122291629 NCBI Ensembl UCSC
MANE Select Transcript
NM_000388.4 ENST00000639785.2 (Read more about MANE Select)
Function
G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:7759551, PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:23966241, PubMed:25292184, PubMed:25104082, PubMed:26386835, PubMed:25766501, PubMed:22789683). Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormo... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3384
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)