Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    CASR calcium sensing receptor [ Homo sapiens (human) ]

    Gene ID: 846, updated on 24-Apr-2016
    Official Symbol
    CASRprovided by HGNC
    Official Full Name
    calcium sensing receptorprovided by HGNC
    Primary source
    HGNC:HGNC:1514
    See related
    Ensembl:ENSG00000036828 HPRD:03122; MIM:601199; Vega:OTTHUMG00000159491
    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; GPRC2A; HYPOC1
    Summary
    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]
    Orthologs
    Location:
    3q13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (122183667..122286503)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121902530..122005350)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927010 Neighboring gene immunoglobulin like domain containing receptor 1 Neighboring gene CD86 molecule Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene cystatin A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Epilepsy, idiopathic generalized 8
    MedGen: C2752062 OMIM: 612899 GeneReviews: Not available
    Compare labs
    Hypocalcemia, autosomal dominant 1
    MedGen: C0342345 OMIM: 601198 GeneReviews: Not available
    Compare labs
    Hypocalciuric hypercalcemia, familial, type 1
    MedGen: C1809471 OMIM: 145980 GeneReviews: Not available
    Compare labs
    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

    NHGRI 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.
    NHGRI GWA Catalog
    Common genetic variants associate with serum phosphorus concentration.
    NHGRI GWA Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    NHGRI GWA Catalog
    Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    NHGRI GWA Catalog
    • Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystem (from REACTOME)
      Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystemThe class C G-protein-coupled receptors are a class of G-protein coupled receptors that include the metabotropic glutamate receptors and several additional receptors (Brauner-Osborne H et al, 2007). ...
    • E-cadherin signaling in keratinocytes, organism-specific biosystem (from Pathway Interaction Database)
      E-cadherin signaling in keratinocytes, organism-specific biosystem
      E-cadherin signaling in keratinocytes
    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystem (from WikiPathways)
      GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
      Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol phospholipase C activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular calcium ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    chemosensory behavior TAS
    Traceable Author Statement
    more info
    PubMed 
    detection of calcium ion TAS
    Traceable Author Statement
    more info
    PubMed 
    ossification TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    extracellular calcium-sensing receptor
    Names
    calcium-sensing receptor
    parathyroid Ca(2+)-sensing receptor 1
    parathyroid cell calcium-sensing receptor 1

    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_009058.1 RefSeqGene

      Range
      5001..107815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000379.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon and lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) is shorter and lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC068630, AC068754, BP388878, U20759, U20760
      Consensus CDS
      CCDS3010.1
      UniProtKB/Swiss-Prot
      P41180
      Related
      ENSP00000418685, OTTHUMP00000215576, ENST00000490131, OTTHUMT00000355761
      Conserved Domains (5) summary
      cd06364
      Location:20530
      PBP1_CaSR; Ligand-binding domain of the CaSR calcium-sensing receptor, which is a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam00003
      Location:622860
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:69495
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:682854
      ABC2_membrane_3; ABC-2 family transporter protein
    2. NM_001178065.1NP_001171536.1  extracellular calcium-sensing receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_001171536.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC068754, BC104999, U20760
      Consensus CDS
      CCDS54632.1
      UniProtKB/Swiss-Prot
      P41180
      Related
      ENSP00000420194, OTTHUMP00000215577, ENST00000498619, OTTHUMT00000355762
      Conserved Domains (5) summary
      cd06364
      Location:20530
      PBP1_CaSR; Ligand-binding domain of the CaSR calcium-sensing receptor, which is a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam00003
      Location:632870
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:69495
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:548601
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:692864
      ABC2_membrane_3; ABC-2 family transporter protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      122183667..122286503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513238.1XP_011511540.1  

      See identical proteins and their annotated locations for XP_011511540.1

      Conserved Domains (5) summary
      cd06364
      Location:20530
      PBP1_CaSR; Ligand-binding domain of the CaSR calcium-sensing receptor, which is a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam00003
      Location:622860
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:69495
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:682854
      ABC2_membrane_3; ABC-2 family transporter protein
    2. XM_005247836.2XP_005247893.1  

      See identical proteins and their annotated locations for XP_005247893.1

      Conserved Domains (5) summary
      cd06364
      Location:20530
      PBP1_CaSR; Ligand-binding domain of the CaSR calcium-sensing receptor, which is a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam00003
      Location:622860
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:69495
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:682854
      ABC2_membrane_3; ABC-2 family transporter protein
    3. XM_011513237.1XP_011511539.1  

      See identical proteins and their annotated locations for XP_011511539.1

      Conserved Domains (5) summary
      cd06364
      Location:20530
      PBP1_CaSR; Ligand-binding domain of the CaSR calcium-sensing receptor, which is a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam00003
      Location:622860
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:69495
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:682854
      ABC2_membrane_3; ABC-2 family transporter protein
    4. XM_006713789.2XP_006713852.1  

      See identical proteins and their annotated locations for XP_006713852.1

      Conserved Domains (5) summary
      cd06364
      Location:20530
      PBP1_CaSR; Ligand-binding domain of the CaSR calcium-sensing receptor, which is a member of the family C receptors within the G-protein coupled receptor superfamily
      pfam00003
      Location:622860
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:69495
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:538591
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:682854
      ABC2_membrane_3; ABC-2 family transporter protein
    5. XM_005247837.2XP_005247894.1  

      Conserved Domains (5) summary
      pfam00003
      Location:461699
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:3334
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:377430
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:521693
      ABC2_membrane_3; ABC-2 family transporter protein
      cl10011
      Location:3369
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    6. XM_011513239.1XP_011511541.1  

      Conserved Domains (5) summary
      pfam00003
      Location:426664
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:1299
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:342395
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      pfam12698
      Location:486658
      ABC2_membrane_3; ABC-2 family transporter protein
      cl10011
      Location:1334
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      121866087..121968904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)