Gene:
CASR
calcium-sensing receptor

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs1042636 106240A>G, 122003769A>G, 28498915A>G, 2968A>G, 2998A>G, Arg1000Gly, Arg990Gly, CASR: R990G
A > G
Missense
Arg1000Gly
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  severe neonatal hyperparathyroidism
Alternate Symbols:  FHH; GPRC2A; NSHPT
PharmGKB Accession Id: PA26097

Details

Cytogenetic Location: chr3 : q21.1 - q21.1
GP mRNA Boundary: chr3 : 121903181 - 122005344
GP Gene Boundary: chr3 : 121893181 - 122008344
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Proton Pump Inhibitor Pathway, Pharmacodynamics
    Genes involved in the proton pump activation and trafficking.

External Pathways

Links to non-PharmGKB pathways.

  1. E-cadherin signaling in keratinocytes - (Pathway Interaction Database NCI-Nature Curated)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
cinacalcet
No related diseases are available

Publications related to CASR: 4

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly. European journal of endocrinology / European Federation of Endocrine Societies. 2012. Filopanti Marcello, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cinacalcet treatment of primary hyperparathyroidism. International journal of endocrinology. 2011. Rothe H M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of osteoporosis-related bone fractures: moving towards the harmonization and validation of polymorphism diagnostic tools. Pharmacogenomics. 2010. Rojo Venegas Karen, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Estimating coverage and power for genetic association studies using near-complete variation data. Nature genetics. 2008. Bhangale Tushar R, et al. PubMed

LinkOuts

UniProtKB:
CASR_HUMAN (P41180)
Ensembl:
ENSG00000036828
GenAtlas:
CASR
GeneCard:
CASR
MutDB:
CASR
ALFRED:
LO023526S
HuGE:
CASR
Comparative Toxicogenomics Database:
846
ModBase:
P41180
HumanCyc Gene:
HS00520
IUPHAR Receptor:
CaS (54)
HGNC:
1514

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