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Aliases for CASR Gene

Aliases for CASR Gene

  • Calcium-Sensing Receptor 2 3
  • PCAR1 3 4 6
  • Parathyroid Cell Calcium-Sensing Receptor 1 3 4
  • HYPOC1 3 6
  • GPRC2A 3 4
  • EIG8 3 6
  • HHC1 3 6
  • FIH 3 6
  • Extracellular Calcium-Sensing Receptor 3
  • Parathyroid Ca(2+)-Sensing Receptor 1 3
  • Severe Neonatal Hyperparathyroidism 2
  • Hypocalciuric Hypercalcemia 1 2
  • NSHPT 3
  • CaSR 4
  • CAR 3
  • FHH 3
  • HHC 3

External Ids for CASR Gene

Previous Symbols for CASR Gene

  • HHC
  • HHC1

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 hyperparathyroidism, neonatal and metastatic insulinoma. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and phosphatidylinositol phospholipase C activity.

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

  • Activation of an ERK signaling pathway often involves regulation of cell division, migration and survival; dysregulation of these pathways has been associated with various diseases, including cancer. ERK signaling has also been linked to the positive regulation of synaptic plasticity and long-term potentiation (LTP).

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

Genomic Location for CASR Gene

Start:
122,183,683 bp from pter
End:
122,286,503 bp from pter
Size:
102,821 bases
Orientation:
Plus strand

Genomic View for CASR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CASR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASR Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn90, Asn130, Asn261, Asn287, Asn386, Asn400, Asn446, Asn468, Asn488, Asn541, and Asn594

Other Protein References for CASR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CASR Gene

Domains for CASR Gene

Gene Families for CASR Gene

HGNC:
  • CASR :GPCR / Class C : Calcium-sensing receptors
IUPHAR :

UniProtKB/Swiss-Prot:

CASR_HUMAN
Family:
  • Belongs to the G-protein coupled receptor 3 family.:
    • P41180
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

Gene Ontology (GO) - Molecular Function for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding --
GO:0004435 phosphatidylinositol phospholipase C activity TAS 7874174
GO:0004930 G-protein coupled receptor activity IEA --
GO:0005178 integrin binding --
GO:0005509 calcium ion binding --
genes like me logo Genes that share ontologies with CASR: view
genes like me logo Genes that share phenotypes with CASR: view

Animal Models for CASR Gene

MGI Knock Outs for CASR:

miRNA for CASR Gene

miRTarBase miRNAs that target CASR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
endoplasmic reticulum 2
extracellular 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7759551
GO:0009986 cell surface --
genes like me logo Genes that share ontologies with CASR: view

Pathways for CASR Gene

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

Gene Ontology (GO) - Biological Process for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification TAS 7874174
GO:0002931 response to ischemia --
GO:0005513 detection of calcium ion TAS 7759551
GO:0006816 calcium ion transport --
GO:0006874 cellular calcium ion homeostasis TAS 7874174
genes like me logo Genes that share ontologies with CASR: view

Compounds for CASR Gene

(4) Tocris Compounds for CASR Gene

Compound Action Cas Number
Calhex 231 hydrochloride Negative allosteric modulator of the calcium-sensing receptor [652973-93-8]
NPS 2143 hydrochloride Selective antagonist of the calcium-sensing receptor; orally active calcilytic agent [284035-33-2]
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]

(1) HMDB Compounds for CASR Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for CASR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cinacalcet
226256-56-0 target agonist

(11) IUPHAR Ligand for CASR Gene

Ligand Type Action Affinity Pubmed IDs
AC265347 Allosteric regulator Positive 8.1
NPS 2143 Antagonist Antagonist 7.4
cinacalcet Allosteric regulator Positive 7.3
2-methyl-3-phenethyl-3H-pyrimidin-4-one (cmp 2H) Antagonist Antagonist 7
compound (S)-3h [PMID:15686947] Antagonist Antagonist 6.9
NPS R-568 Allosteric regulator Positive 6.5
calindol Allosteric regulator Positive 6.5
calhex 231 Allosteric regulator Negative 6.4
spermine Channel blocker None 4.43
L-tryptophan Inhibitor Inhibition 2.3
Ca2+ Antagonist Antagonist

(58) Novoseek inferred chemical compound relationships for CASR Gene

Compound -log(P) Hits PubMed IDs
cinacalcet 93.3 27
calcium 84.6 306
vitamin d 79.9 85
calcitriol 71 11
22-oxacalcitriol 68.1 1
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 differential expression in normal tissues according to GTEx for CASR Gene

This gene is overexpressed in Pancreas (24.0) and Kidney - Cortex (20.6).

Integrated Proteomics: protein expression 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 expressions with CASR: view

Orthologs for CASR Gene

This gene was present in the common ancestor of chordates.

Orthologs for CASR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASR 36
  • 99.35 (n)
  • 99.44 (a)
CASR 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CASR 36
  • 89.83 (n)
  • 93.69 (a)
CASR 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASR 36
  • 90.14 (n)
  • 94.29 (a)
CASR 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casr 36
  • 87.38 (n)
  • 93.51 (a)
Casr 16
Casr 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASR 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASR 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casr 36
  • 87.32 (n)
  • 93.32 (a)
chicken
(Gallus gallus)
Aves CASR 36
  • 80.54 (n)
  • 87.89 (a)
CASR 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASR 37
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496505 36
  • 74.05 (n)
  • 78.72 (a)
zebrafish
(Danio rerio)
Actinopterygii CASR 37
  • 76 (a)
OneToOne
LOC560607 36
  • 70.67 (n)
  • 75.98 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5779 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs9740 -- 122,286,206(+) ATGTC(A/G)GAGCT utr-variant-3-prime
rs10190 -- 122,286,389(+) CATTC(C/T)TTCCC utr-variant-3-prime
rs884086 -- 122,252,862(-) AGCAC(C/T)GGACT intron-variant, upstream-variant-2KB
rs937625 -- 122,252,665(+) ATTGT(G/T)TAAAT intron-variant, upstream-variant-2KB
rs937626 -- 122,252,955(+) GGTGC(A/G)GAGTG intron-variant, upstream-variant-2KB

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

Relevant External Links for CASR Gene

HapMap Linkage Disequilibrium report
CASR
Human Gene Mutation Database (HGMD)
CASR
Locus Specific Mutation Databases (LSDB)
CASR

Disorders for CASR Gene

(4) OMIM Diseases for CASR Gene (601199)

UniProtKB/Swiss-Prot

CASR_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.

(85) Novoseek inferred disease relationships for CASR Gene

Disease -log(P) Hits PubMed IDs
hypocalcemia, autosomal dominant 95.9 35
nshpt 95 26
hyperparathyroidism secondary 90.6 33
hypercalcemia 89.8 109
hyperparathyroidism 87.9 59

Relevant External Links for CASR

Genetic Association Database (GAD)
CASR
Human Genome Epidemiology (HuGE) Navigator
CASR
genes like me logo Genes that share disorders with CASR: view

Publications for CASR Gene

  1. Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. (PMID: 11161843) Cole D.E.C. … Rubin L.A. (Mol. Genet. Metab. 2001) 3 4 23 49
  2. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. (PMID: 14985373) Warner J. … Cardinal J. (J. Med. Genet. 2004) 3 4 23 49
  3. 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 49
  4. Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. (PMID: 17698911) Nissen P.H. … Mosekilde L. (J. Clin. Endocrinol. Metab. 2007) 3 4 23 49
  5. Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol. (PMID: 18680227) Muddana V. … Whitcomb D.C. (World J. Gastroenterol. 2008) 3 23 49

Products for CASR Gene

Sources for CASR Gene

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