Human Gene CASR (uc003eew.4) Description and Page Index
Description: Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. RefSeq Summary (NM_001178065): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U20760.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1970526, SAMEA2145774 [ECO:0000350] ##Evidence-Data-END## Transcript (Including UTRs) Position: hg19 chr3:121,903,181-122,005,344 Size: 102,164 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr3:121,973,037-122,004,038 Size: 31,002 Coding Exon Count: 6
albumin bone density calcium fractures, vertebral hyperparathyroidism kidney stone disease Scillitani, A. et al. 2006, Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor, J Clin Endocrinol Metab 2006.
Our data indicate that the CASR SRQ haplotype is significantly associated with PHPT in our population.
bone density Eckstein, M. et al. 2002, Vitamin D and calcium-sensing receptor genotypes in men and premenopausal women with low bone mineral density., The Israel Medical Association journal. 2002 May;4(5):340-4.
In Israeli Jewish men and premenopausal women VDR gene alleles do not seem to be associated with lower lumbar spine or femoral neck BMD. A trend towards heterozygosity for a CaSR polymorphism missense mutation was noted in the LBMD patients. Age at menarche in the LBMD women was found to be an important predictor of BMD. A significant difference was found between LBMD women and healthy control women towards heterozygosity for a CaSR polymorphism, as well as between homozygotes and heterozygotes for a CaSR polymorphism in BMD. The significance of these findings and their applicability to a larger population awaits further studies.
bone density Wang, Y. B. et al. 2006, The Human Calcium-Sensing Receptor and Interleukin-6 Genes are Associated with Bone Mineral Density in Chinese, Yi Chuan Xue Bao 2006 33(10) 870-80.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00003 - 7 transmembrane sweet-taste receptor of 3 GCPR PF01094 - Receptor family ligand binding region PF07562 - Nine Cysteines Domain of family 3 GPCR PF13458 - Periplasmic binding protein
SCOP Domains: 53822 - Periplasmic binding protein-like I
ModBase Predicted Comparative 3D Structure on P41180-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.