CASR |
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)