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 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:121,903,181-122,005,344)mRNA (may differ from genome)Protein (1088 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMGIOMIMPubMedReactome
Stanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CASR
CDC HuGE Published Literature: CASR
Positive Disease Associations: albumin bone density calcium fractures, vertebral hyperparathyroidism kidney stone disease , bone density , calcium , calcium cardiac death heart disease, ischemic myocardial infarct phosphate , colorectal cancer , electrolyte levels , Familial hypocalciuric hypercalcemia , hypercalciuria , hyperparathyroidism , hyperparathyroidism, primary , primary hyperparathyroidism , total serum calcium
Related Studies:
  1. 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. [PubMed 17018660]
    Our data indicate that the CASR SRQ haplotype is significantly associated with PHPT in our population.
  2. 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. [PubMed 12040821]
    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.
  3. 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. [PubMed 17046587]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CASR
Diseases sorted by gene-association score: hypocalcemia, autosomal dominant* (1710), hyperparathyroidism, neonatal* (1691), hypocalciuric hypercalcemia, type i* (1676), epilepsy idiopathic generalized 8* (1005), familial hypocalciuric hypercalcemia* (440), casr-related disorders* (100), casr-associated familial isolated hypoparathyroidism* (100), casr-related familial isolated hypoparathyroidism* (100), hyperparathyroidism (91), parathyroid carcinoma (30), mineral metabolism disease (27), secondary hyperparathyroidism of renal origin (21), parathyroid gland disease (20), autoimmune hypoparathyroidism (18), hyperphosphatemia (18), uremia (18), autoimmune polyendocrine syndrome (17), hypercalciuria, absorptive (16), calciphylaxis (16), parathyroid adenoma (15), nephrolithiasis, calcium oxalate (15), hypoparathyroidism (14), renal osteodystrophy (14), autoimmune polyendocrine syndrome type 1 (14), hyperparathyroidism, familial primary (13), hypercalcemia, infantile, 1 (12), osteitis fibrosa (12), pancreatitis, hereditary* (12), hyperparathyroidism-jaw tumor syndrome (11), kidney disease (11), gitelman syndrome (11), pancreatitis (11), pulmonary hypertension, neonatal (10), bartter disease (10), hypocalciuric hypercalcemia, type iii (10), hypocalciuric hypercalcemia, type ii (10), chondrocalcinosis (9), nephrolithiasis (9), idiopathic hypercalciuria (9), osteomalacia (9), hypokalemia (7), fanconi-like syndrome (7), multiple endocrine neoplasia 1 (6), diabetes insipidus, nephrogenic (6), phosphorus metabolism disease (6), bartter syndrome, type 2 (5), sialolithiasis (5), xanthinuria, type i (3), osteoporosis (3), colorectal cancer (3), chronic kidney failure (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.36 RPKM in Kidney - Cortex
Total median expression: 9.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -184.11438-0.420 Picture PostScript Text
3' UTR -359.391306-0.275 Picture PostScript Text

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
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  U20759 - Human parathyroid cell calcium-sensing receptor mRNA, complete cds.
U20760 - Human extracellular calcium-sensing receptor mRNA, complete cds.
JD086642 - Sequence 67666 from Patent EP1572962.
JD464000 - Sequence 445024 from Patent EP1572962.
JD251087 - Sequence 232111 from Patent EP1572962.
JD277186 - Sequence 258210 from Patent EP1572962.
JD130685 - Sequence 111709 from Patent EP1572962.
D50855 - Homo sapiens mRNA for Ca-sensing receptor, complete cds.
BC104999 - Homo sapiens calcium-sensing receptor, mRNA (cDNA clone MGC:132659 IMAGE:8144002), complete cds.
BC112236 - Homo sapiens calcium-sensing receptor, mRNA (cDNA clone MGC:138441 IMAGE:8327704), complete cds.
S79217 - Homo sapiens Ca(2+)-sensing receptor mRNA, partial cds.
S83176 - Homo sapiens calcium-sensing receptor long isoform (CASR) mRNA, partial cds.
FJ360896 - Homo sapiens extracellular calcium-sensing receptor (CASR) mRNA, partial cds.
S81755 - calcium receptor|CaR [human, neonatal foreskin, keratinocytes, mRNA Partial, 798 nt].
JD313835 - Sequence 294859 from Patent EP1572962.
JD440428 - Sequence 421452 from Patent EP1572962.
JD043390 - Sequence 24414 from Patent EP1572962.
JD330283 - Sequence 311307 from Patent EP1572962.
JD490272 - Sequence 471296 from Patent EP1572962.
JD305158 - Sequence 286182 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P41180 (Reactome details) participates in the following event(s):

R-HSA-420724 Calcium-sensing receptor binds calcium
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors)
R-HSA-418594 G alpha (i) signalling events
R-HSA-416476 G alpha (q) signalling events
R-HSA-500792 GPCR ligand binding
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: GPRC2A, NM_001178065, NP_001171536, P41180-2, PCAR1
UCSC ID: uc003eew.4
RefSeq Accession: NM_001178065
Protein: P41180-2, splice isoform of P41180 CCDS: CCDS3010.1, CCDS54632.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CASR:
pancreatitis-ov (Pancreatitis Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001178065.1
exon count: 7CDS single in 3' UTR: no RNA size: 5011
ORF size: 3267CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 6509.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.