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Aliases for CASR Gene

Aliases for CASR Gene

  • Calcium Sensing Receptor 2 3
  • Calcium-Sensing Receptor 2 3 5
  • Parathyroid Cell Calcium-Sensing Receptor 1 3 4
  • GPRC2A 3 4
  • PCAR1 3 4
  • Parathyroid Ca(2+)-Sensing Receptor 1 3
  • Severe Neonatal Hyperparathyroidism 2
  • Hypocalciuric Hypercalcemia 1 2
  • HYPOC1 3
  • NSHPT 3
  • EIG8 3
  • HHC1 3
  • CaSR 4
  • CAR 3
  • FHH 3
  • FIH 3
  • HHC 3

External Ids for CASR Gene

Previous HGNC Symbols for CASR Gene

  • HHC
  • HHC1

Previous GeneCards Identifiers for CASR Gene

  • GC03P118638
  • GC03P121820
  • GC03P123183
  • GC03P123223
  • GC03P123385
  • GC03P119276
  • GC03P121902

Summaries for CASR Gene

Entrez Gene Summary for CASR Gene

  • The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]

GeneCards Summary for CASR Gene

CASR (Calcium Sensing Receptor) is a Protein Coding gene. Diseases associated with CASR include hypocalcemia, autosomal dominant and hyperparathyroidism, neonatal. Among its related pathways are Proton Pump Inhibitor Pathway, Pharmacodynamics and Taste transduction. GO annotations related to this gene include G-protein coupled receptor activity and protein kinase binding.

UniProtKB/Swiss-Prot for CASR Gene

  • Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.

Tocris Summary for CASR Gene

  • The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that senses extracellular Ca2+. The CaSR has wide tissue expression being found in the parathyroid gland, thyroid, kidney, intestine, skin, brain, heart, pancreas, bone and lung.

Gene Wiki entry for CASR Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASR Gene

Genomics for CASR Gene

Regulatory Elements for CASR Gene

Enhancers for CASR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CASR on UCSC Golden Path with GeneCards custom track

Genomic Location for CASR Gene

Chromosome:
3
Start:
122,183,667 bp from pter
End:
122,286,503 bp from pter
Size:
102,837 bases
Orientation:
Plus strand

Genomic View for CASR Gene

Genes around CASR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASR Gene

Proteins for CASR Gene

  • Protein details for CASR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41180-CASR_HUMAN
    Recommended name:
    Extracellular calcium-sensing receptor
    Protein Accession:
    P41180
    Secondary Accessions:
    • Q13912
    • Q16108
    • Q16109
    • Q16110
    • Q16379
    • Q2M1T0
    • Q4PJ19

    Protein attributes for CASR Gene

    Size:
    1078 amino acids
    Molecular mass:
    120674 Da
    Quaternary structure:
    • Interacts with VCP and RNF19A. Interacts with ARRB1 (By similarity).

    Alternative splice isoforms for CASR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASR Gene

Proteomics data for CASR Gene at MOPED

Post-translational modifications for CASR Gene

  • N-glycosylated.
  • Ubiquitinated by RNF19A; which induces proteasomal degradation.
  • Glycosylation at Asn 90, Asn 130, Asn 261, Asn 287, Asn 386, Asn 400, Asn 446, Asn 468, Asn 488, Asn 541, and Asn 594
  • Modification sites at PhosphoSitePlus

Other Protein References for CASR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CASR Gene

Domains & Families for CASR Gene

Gene Families for CASR Gene

Graphical View of Domain Structure for InterPro Entry

P41180

UniProtKB/Swiss-Prot:

CASR_HUMAN :
  • Belongs to the G-protein coupled receptor 3 family.
Family:
  • Belongs to the G-protein coupled receptor 3 family.
genes like me logo Genes that share domains with CASR: view

Function for CASR Gene

Molecular function for CASR Gene

GENATLAS Biochemistry:
extracellular calcium sensing receptor gene 1,bovine homolog,expressed in parathyroid cells,C cells of thyroid,also expressed in kidney on the basolateral surface of cells of the thick ascending limbs,and on the luminal surface of cells of the papillary collecting duct,also expressed in the brain,in pancreatic islet B cells and putatively involved in the regulation of insulin release,G protein coupled receptor superfamily,activating phospholipase C
UniProtKB/Swiss-Prot Function:
Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.
genes like me logo Genes that share phenotypes with CASR: view

Human Phenotype Ontology for CASR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CASR Gene

MGI Knock Outs for CASR:

Animal Model Products

miRNA for CASR Gene

miRTarBase miRNAs that target CASR

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CASR Gene

Localization for CASR Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASR Gene COMPARTMENTS Subcellular localization image for CASR gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
cytosol 2
endoplasmic reticulum 2
extracellular 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with CASR: view

Pathways & Interactions for CASR Gene

genes like me logo Genes that share pathways with CASR: view

SIGNOR curated interactions for CASR Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0005513 detection of calcium ion TAS 7759551
GO:0006915 apoptotic process IEA --
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway IEA --
GO:0007254 JNK cascade IEA --
genes like me logo Genes that share ontologies with CASR: view

Drugs & Compounds for CASR Gene

(44) Drugs for CASR Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cinacalcet Approved Pharma Positive, Allosteric regulator, agonist, Target 0
spermine Approved Nutra Full agonist, Agonist 0
L-Tryptophan Approved Nutra Positive, Allosteric regulator, binder 0
Sensipar Approved March 2004 Pharma 0
751689 Investigational Pharma Target 0

(35) Additional Compounds for CASR Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-methyl-3-phenethyl-3H-pyrimidin-4-one (cmp 2H)
Antagonist
NPS R-568
Positive, Allosteric regulator
Calhex 231 hydrochloride
652973-93-8
Gadolinium chloride
10138-52-0
NPS 2143 hydrochloride
324523-20-8

(5) Tocris Compounds for CASR Gene

Compound Action Cas Number
Calhex 231 hydrochloride Negative allosteric modulator of the calcium-sensing receptor 652973-93-8
Gadolinium chloride Stretch-activated calcium channel blocker; calcium-sensing receptor agonist 10138-52-0
NPS 2143 hydrochloride Selective antagonist of the calcium-sensing receptor; orally active calcilytic agent 324523-20-8
R 568 hydrochloride Positive allosteric modulator of the human calcium-sensing receptor 177172-49-5
Strontium chloride Calcium sensing receptor (CaSR) agonist 10476-85-4

(3) ApexBio Compounds for CASR Gene

Compound Action Cas Number
Cinacalcet 226256-56-0
Cinacalcet HCl Calcium-sensing receptor (CaR) agonist 364782-34-3
NPS-2143 CaSR antagonist 284035-33-2
genes like me logo Genes that share compounds with CASR: view

Transcripts for CASR Gene

Unigene Clusters for CASR Gene

Calcium-sensing receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1:
SP2: -

Relevant External Links for CASR Gene

GeneLoc Exon Structure for
CASR
ECgene alternative splicing isoforms for
CASR

Expression for CASR Gene

mRNA expression in normal human tissues for CASR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASR Gene

This gene is overexpressed in Pancreas (x24.0) and Kidney - Cortex (x20.6).

Protein differential expression in normal tissues from HIPED for CASR Gene

This gene is overexpressed in Liver, secretome (27.7), Platelet (18.2), and Pancreas (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CASR Gene



SOURCE GeneReport for Unigene cluster for CASR Gene Hs.435615

mRNA Expression by UniProt/SwissProt for CASR Gene

P41180-CASR_HUMAN
Tissue specificity: Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta.
genes like me logo Genes that share expression patterns with CASR: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CASR Gene

Orthologs for CASR Gene

This gene was present in the common ancestor of chordates.

Orthologs for CASR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CASR 35
  • 89.83 (n)
  • 93.69 (a)
CASR 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASR 35
  • 90.14 (n)
  • 94.29 (a)
CASR 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casr 35
  • 87.38 (n)
  • 93.51 (a)
Casr 16
Casr 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CASR 35
  • 99.35 (n)
  • 99.44 (a)
CASR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casr 35
  • 87.32 (n)
  • 93.32 (a)
oppossum
(Monodelphis domestica)
Mammalia CASR 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASR 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASR 35
  • 80.54 (n)
  • 87.89 (a)
CASR 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASR 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496505 35
  • 74.05 (n)
  • 78.72 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC560607 35
  • 70.67 (n)
  • 75.98 (a)
CASR 36
  • 76 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5779 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for CASR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASR Gene

ENSEMBL:
Gene Tree for CASR (if available)
TreeFam:
Gene Tree for CASR (if available)

Paralogs for CASR Gene

genes like me logo Genes that share paralogs with CASR: view

No data available for Paralogs for CASR Gene

Variants for CASR Gene

Sequence variations from dbSNP and Humsavar for CASR Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_003585 Hypocalciuric hypercalcemia, familial 1 (HHC1)
VAR_003586 Hyperparathyroidism, neonatal severe (NSHPT)
VAR_003586 Hypocalciuric hypercalcemia, familial 1 (HHC1)
VAR_003587 Hypocalciuric hypercalcemia, familial 1 (HHC1)
VAR_003588 Hypocalcemia, autosomal dominant 1 (HYPOC1)

Structural Variations from Database of Genomic Variants (DGV) for CASR Gene

Variant ID Type Subtype PubMed ID
esv33139 CNV Loss 17666407
dgv5237n71 CNV Loss 21882294
nsv877387 CNV Loss 21882294
nsv877389 CNV Loss 21882294
esv2677822 CNV Deletion 23128226
nsv877390 CNV Gain 21882294
nsv517368 CNV Loss 19592680

Variation tolerance for CASR Gene

Residual Variation Intolerance Score: 3.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.58; 89.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASR Gene

HapMap Linkage Disequilibrium report
CASR
Human Gene Mutation Database (HGMD)
CASR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASR Gene

Disorders for CASR Gene

MalaCards: The human disease database

(41) MalaCards diseases for CASR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypocalcemia, autosomal dominant
  • hypocalcemia, autosomal dominant, with bartter syndrome
hyperparathyroidism, neonatal
  • neonatal severe hyperparathyroidism
hypocalciuric hypercalcemia, type i
  • familial hypocalciuric hypercalcemia type 1
epilepsy idiopathic generalized 8
  • epilepsy, idiopathic generalized, susceptibility to, 8
familial hypocalciuric hypercalcemia
  • familial benign hypercalcemia
- elite association - COSMIC cancer census association via MalaCards
Search CASR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CASR_HUMAN
  • Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. {ECO:0000269 PubMed:18756473}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]: A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. {ECO:0000269 PubMed:8675635, ECO:0000269 PubMed:9253359}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]: A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. {ECO:0000269 PubMed:10487661, ECO:0000269 PubMed:12050233, ECO:0000269 PubMed:12107202, ECO:0000269 PubMed:12241879, ECO:0000269 PubMed:12574188, ECO:0000269 PubMed:12915654, ECO:0000269 PubMed:15551332, ECO:0000269 PubMed:16608894, ECO:0000269 PubMed:7874174, ECO:0000269 PubMed:8733126, ECO:0000269 PubMed:8813042, ECO:0000269 PubMed:9253358, ECO:0000269 PubMed:9661634, ECO:0000269 PubMed:9920108}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269 PubMed:11762699, ECO:0000269 PubMed:15572418, ECO:0000269 PubMed:15579740, ECO:0000269 PubMed:15879434, ECO:0000269 PubMed:16598859, ECO:0000269 PubMed:17473068, ECO:0000269 PubMed:17698911, ECO:0000269 PubMed:21643651, ECO:0000269 PubMed:7673400, ECO:0000269 PubMed:7726161, ECO:0000269 PubMed:7916660, ECO:0000269 PubMed:9298824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations.

Relevant External Links for CASR

Genetic Association Database (GAD)
CASR
Human Genome Epidemiology (HuGE) Navigator
CASR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASR
genes like me logo Genes that share disorders with CASR: view

No data available for Genatlas for CASR Gene

Publications for CASR Gene

  1. Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. (PMID: 15531522) Scillitani A. … Cole D.E.C. (J. Clin. Endocrinol. Metab. 2004) 3 4 23 48 67
  2. Calcium-sensing receptor gene polymorphism Arg990Gly and its possible effect on response to cinacalcet HCl. (PMID: 15864123) Rothe H.M. … Chou S.Y. (Pharmacogenet. Genomics 2005) 3 23 25 26
  3. Cinacalcet HCl: a novel therapeutic for hyperparathyroidism. (PMID: 15794735) de Francisco A.L. (Expert Opin Pharmacother 2005) 23 25 26
  4. Management of secondary hyperparathyroidism. (PMID: 16109140) Cunningham J. (Ther Apher Dial 2005) 23 25 26
  5. Management of renal osteodystrophy in children. (PMID: 15884662) Tasic V. (Turk. J. Pediatr. 2005) 23 25 26

Products for CASR Gene

Sources for CASR Gene

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