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    CASR calcium sensing receptor [ Homo sapiens (human) ]

    Gene ID: 846, updated on 29-Oct-2024

    Summary

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    Official Symbol
    CASRprovided by HGNC
    Official Full Name
    calcium sensing receptorprovided by HGNC
    Primary source
    HGNC:HGNC:1514
    See related
    Ensembl:ENSG00000036828 MIM:601199; AllianceGenome:HGNC:1514
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; hCasR; GPRC2A; HYPOC1
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 8.6), gall bladder (RPKM 2.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CASR in Genome Data Viewer
    Location:
    3q13.33-q21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122183668..122291629)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124903258..125011238)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121902515..122010476)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:121711615-121712116 Neighboring gene Sharpr-MPRA regulatory region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20352 Neighboring gene NANOG hESC enhancer GRCh37_chr3:121724759-121725260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14638 Neighboring gene immunoglobulin like domain containing receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20363 Neighboring gene CD86 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20365 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:121983934-121984035 Neighboring gene NANOG hESC enhancer GRCh37_chr3:122026434-122026982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20366 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene cystatin A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. Guarnieri V, et al. J Clin Endocrinol Metab, 2010 Apr. PMID 20164288
    2. Extracellular calcium promotes the migration of breast cancer cells through the activation of the calcium sensing receptor. Saidak Z, et al. Exp Cell Res, 2009 Jul 15. PMID 19285978
    3. Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. Brown EM. Endocrinol Metab Clin North Am, 2009 Jun. PMID 19328421, Free PMC Article
    4. Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. White E, et al. Mol Endocrinol, 2009 Jul. PMID 19389809, Free PMC Article
    5. Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager. Brachet C, et al. Eur J Endocrinol, 2009 Jul. PMID 19423559

    See all (524) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].
      Title: [Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].
    2. Association of single nucleotide genetic polymorphisms of vitamin D receptor and calcium-sensitive receptor with calcium-containing kidney stones in Chinese Dai populations: a prospective multi-center study.
      Title: Association of single nucleotide genetic polymorphisms of vitamin D receptor and calcium-sensitive receptor with calcium-containing kidney stones in Chinese Dai populations: a prospective multi-center study.
    3. The calcium-sensing-receptor (CaSR) in adipocytes contributes to sex-differences in the susceptibility to high fat diet induced obesity and atherosclerosis.
      Title: The calcium-sensing-receptor (CaSR) in adipocytes contributes to sex-differences in the susceptibility to high fat diet induced obesity and atherosclerosis.
    4. Calcium-sensing Receptor, a Potential Biomarker Revealed by Large-scale Public Databases and Experimental Verification in Metastatic Breast Cancer.
      Title: Calcium-sensing Receptor, a Potential Biomarker Revealed by Large-scale Public Databases and Experimental Verification in Metastatic Breast Cancer.
    5. Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids.
      Title: Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids.
    6. Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
      Title: Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
    7. Promiscuous G-protein activation by the calcium-sensing receptor.
      Title: Promiscuous G-protein activation by the calcium-sensing receptor.
    8. Allosteric modulation and G-protein selectivity of the Ca[2+]-sensing receptor.
      Title: Allosteric modulation and G-protein selectivity of the Ca(2+)-sensing receptor.
    9. Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.
      Title: Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.
    10. Expression of the Calcium-Sensing Receptor on Normal and Abnormal Parathyroid and Thyroid Tissue.
      Title: Expression of the Calcium-Sensing Receptor on Normal and Abnormal Parathyroid and Thyroid Tissue.
    Submit: New GeneRIF Correction See all GeneRIFs (432)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant hypocalcemia 1
    MedGen: C0342345 OMIM: 601198 GeneReviews: Not available
    		Compare labs
    Epilepsy, idiopathic generalized, susceptibility to, 8
    MedGen: C2752062 OMIM: 612899 GeneReviews: Not available
    		Compare labs
    Familial hypocalciuric hypercalcemia 1
    MedGen: C0342637 OMIM: 145980 GeneReviews: Not available
    		Compare labs
    Neonatal severe primary hyperparathyroidism
    MedGen: C1832615 OMIM: 239200 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    EBI GWAS Catalog
    Common genetic variants associate with serum phosphorus concentration.
    EBI GWAS Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    EBI GWAS Catalog
    Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amino acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables integrin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol phospholipase C activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in JNK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in bile acid secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion import IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hepatocyte growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to low-density lipoprotein particle stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to peptide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemosensory behavior TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in detection of calcium ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fat pad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of calcium ion import IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of positive chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to fibroblast growth factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    extracellular calcium-sensing receptor
    Names
    parathyroid Ca(2+)-sensing receptor 1
    parathyroid cell calcium-sensing receptor 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009058.2 RefSeqGene

      Range
      5001..112962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000388.4 → NP_000379.3  extracellular calcium-sensing receptor isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC068630, AC068754, AC083798
      Consensus CDS
      CCDS3010.1
      UniProtKB/Swiss-Prot
      P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
      UniProtKB/TrEMBL
      A0A1X7SBX3
      Related
      ENSP00000491584.2, ENST00000639785.2
      Conserved Domains (3) summary
      cd15282
      Location:611 → 862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      cd06364
      Location:33 → 530
      PBP1_CaSR; ligand-binding domain of the CaSR calcium-sensing receptor, a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam07562
      Location:538 → 591
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    2. NM_001178065.2 → NP_001171536.2  extracellular calcium-sensing receptor isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC068630, AC068754, AC083798
      Consensus CDS
      CCDS54632.1
      UniProtKB/TrEMBL
      A0A1X7SBX3
      Related
      ENSP00000420194.1, ENST00000498619.4
      Conserved Domains (3) summary
      cd15282
      Location:621 → 872
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      pfam07562
      Location:548 → 601
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cd06364
      Location:33 → 530
      PBP1_CaSR; ligand-binding domain of the CaSR calcium-sensing receptor, a member of the family C receptors within the G-protein coupled receptor superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      122183668..122291629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713789.4 → XP_006713852.1  extracellular calcium-sensing receptor isoform X1

      See identical proteins and their annotated locations for XP_006713852.1

      UniProtKB/Swiss-Prot
      P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
      UniProtKB/TrEMBL
      A0A1X7SBX3
      Related
      ENSP00000492190.1, ENST00000638421.1
      Conserved Domains (3) summary
      cd15282
      Location:611 → 862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      cd06364
      Location:33 → 530
      PBP1_CaSR; ligand-binding domain of the CaSR calcium-sensing receptor, a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam07562
      Location:538 → 591
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    2. XM_047449065.1 → XP_047305021.1  extracellular calcium-sensing receptor isoform X2

    3. XM_017007324.2 → XP_016862813.1  extracellular calcium-sensing receptor isoform X1

      UniProtKB/Swiss-Prot
      P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
      UniProtKB/TrEMBL
      A0A1X7SBX3
      Conserved Domains (3) summary
      cd15282
      Location:611 → 862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      cd06364
      Location:33 → 530
      PBP1_CaSR; ligand-binding domain of the CaSR calcium-sensing receptor, a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam07562
      Location:538 → 591
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    4. XM_017007325.2 → XP_016862814.1  extracellular calcium-sensing receptor isoform X1

      UniProtKB/Swiss-Prot
      P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
      UniProtKB/TrEMBL
      A0A1X7SBX3
      Related
      ENSP00000418685.2, ENST00000490131.7
      Conserved Domains (3) summary
      cd15282
      Location:611 → 862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      cd06364
      Location:33 → 530
      PBP1_CaSR; ligand-binding domain of the CaSR calcium-sensing receptor, a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam07562
      Location:538 → 591
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      124903258..125011238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348094.1 → XP_054204069.1  extracellular calcium-sensing receptor isoform X1

    2. XM_054348097.1 → XP_054204072.1  extracellular calcium-sensing receptor isoform X2

    3. XM_054348095.1 → XP_054204070.1  extracellular calcium-sensing receptor isoform X1

    4. XM_054348096.1 → XP_054204071.1  extracellular calcium-sensing receptor isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41180.3 GenPept UniProtKB/Swiss-Prot:P41180

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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