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CASR calcium-sensing receptor [ Homo sapiens (human) ]

Gene ID: 846, updated on 7-Dec-2014
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]
See CASR in Epigenomics, MapViewer
Location:
3q13
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (122183683..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 (stefin 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
Familial benign hypercalcemia
MedGen: C1809471 OMIM: 145980 GeneReviews: Not available
Compare labs
Hyperparathyroidism, neonatal severe primary
MedGen: C1832645 OMIM: 239200 GeneReviews: Not available
Compare labs
Hypocalcemia, autosomal dominant 1
MedGen: C0342345 OMIM: 601198 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 
metabolic process 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
extracellular 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 

    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 proteins identical to 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
    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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    122183683..122286503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247836.1XP_005247893.1  

    See proteins identical to 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
  2. XM_006713789.1XP_006713852.1  

    See proteins identical to 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
  3. XM_006713790.1XP_006713853.1  

    See proteins identical to XP_006713853.1

    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_005247837.1XP_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

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    119276062..119378878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)