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    CASR calcium sensing receptor [ Homo sapiens (human) ]

    Gene ID: 846, updated on 26-Jul-2021

    Summary

    Official Symbol
    CASRprovided by HGNC
    Official Full Name
    calcium sensing receptorprovided by HGNC
    Primary source
    HGNC:HGNC:1514
    See related
    Ensembl:ENSG00000036828 MIM:601199
    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
    NEW
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    Genomic context

    See CASR in Genome Data Viewer
    Location:
    3q13.33-q21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122183668..122291629)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121902515..122010476)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6303 Neighboring gene immunoglobulin like domain containing receptor 1 Neighboring gene CD86 molecule Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene cystatin A

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    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.
    GeneReviews: Not available
    Common genetic variants associate with serum phosphorus concentration.
    GeneReviews: Not available
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    GeneReviews: Not available
    Epilepsy, idiopathic generalized 8
    MedGen: C2752062 OMIM: 612899 GeneReviews: Not available
    Compare labs
    Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
    GeneReviews: Not available
    Hypocalcemia, autosomal dominant 1
    MedGen: C0342345 OMIM: 601198 GeneReviews: Not available
    Compare labs
    Hypocalciuric hypercalcemia, familial, type 1
    MedGen: C0342637 OMIM: 145980 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    GeneReviews: Not available
    Neonatal severe hyperparathyroidism
    MedGen: C1832615 OMIM: 239200 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-03-02)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-03-02)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular calcium ion homeostasis 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
    PubMed 
    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 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 ATPase activity 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
    PubMed 
    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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_000388.4NP_000379.3  extracellular calcium-sensing receptor isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC068630, AC068754, AC083798
      Consensus CDS
      CCDS3010.1
      Related
      ENSP00000491584.2, ENST00000639785.2
      Conserved Domains (3) summary
      cd15282
      Location:611862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cd06364
      Location:33530
      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
    2. NM_001178065.2NP_001171536.2  extracellular calcium-sensing receptor isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC068630, AC068754, AC083798
      Consensus CDS
      CCDS54632.1
      Related
      ENSP00000420194.1, ENST00000498619.4
      Conserved Domains (3) summary
      cd15282
      Location:621872
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      pfam07562
      Location:548601
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cd06364
      Location:33530
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006713789.3XP_006713852.1  extracellular calcium-sensing receptor isoform X1

      See identical proteins and their annotated locations for XP_006713852.1

      UniProtKB/Swiss-Prot
      P41180
      Related
      ENSP00000492190.1, ENST00000638421.1
      Conserved Domains (3) summary
      cd15282
      Location:611862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cd06364
      Location:33530
      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
    2. XM_017007324.1XP_016862813.1  extracellular calcium-sensing receptor isoform X1

      UniProtKB/Swiss-Prot
      P41180
      Conserved Domains (3) summary
      cd15282
      Location:611862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cd06364
      Location:33530
      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
    3. XM_017007325.1XP_016862814.1  extracellular calcium-sensing receptor isoform X1

      UniProtKB/Swiss-Prot
      P41180
      Related
      ENSP00000418685.2, ENST00000490131.7
      Conserved Domains (3) summary
      cd15282
      Location:611862
      7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cd06364
      Location:33530
      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
    4. XM_005247837.2XP_005247894.1  extracellular calcium-sensing receptor isoform X2

      Conserved Domains (4) summary
      pfam00003
      Location:463698
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:3334
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:379429
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cl10011
      Location:3369
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
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