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CASR calcium sensing receptor [ Homo sapiens (human) ]

Gene ID: 846, updated on 17-Sep-2017
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]
Orthologs
Location:
3q13.33-q21.1
Exon count:
11
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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

  • 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 Jun 15 11:32:44 2016

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.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • 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...
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • 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 IDA
Inferred from Direct Assay
more info
PubMed 
amino acid binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
drug binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
polyamine binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
G-protein coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
JNK cascade IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
branching morphogenesis of an epithelial tube IEA
Inferred from Electronic Annotation
more info
 
calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hepatocyte growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to low-density lipoprotein particle stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to peptide IEA
Inferred from Electronic Annotation
more info
 
cellular response to vitamin D IEA
Inferred from Electronic Annotation
more info
 
chemosensory behavior TAS
Traceable Author Statement
more info
PubMed 
detection of calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
fat pad development IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
phospholipase C-activating G-protein coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ATPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of calcium ion import IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
response to fibroblast growth factor IEA
Inferred from Electronic Annotation
more info
 
response to ischemia IEA
Inferred from Electronic Annotation
more info
 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
axon terminus IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
extracellular calcium-sensing receptor
Names
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
    ENSP00000491584.1, ENST00000639785.1
    Conserved Domains (4) 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:624859
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:69495
    ANF_receptor; Receptor family ligand binding region
    pfam07562
    Location:540590
    NCD3G; Nine Cysteines Domain of family 3 GPCR
  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
    ENSP00000420194.1, ENST00000498619.4
    Conserved Domains (4) 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:634869
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:69495
    ANF_receptor; Receptor family ligand binding region
    pfam07562
    Location:550600
    NCD3G; Nine Cysteines Domain of family 3 GPCR

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

    Range
    122183683..122286503
    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
    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
    pfam07562
    Location:540591
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cd15282
    Location:611862
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
  2. XM_017007324.1XP_016862813.1  extracellular calcium-sensing receptor isoform X1

    UniProtKB/Swiss-Prot
    P41180
    Conserved Domains (3) 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
    pfam07562
    Location:540591
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cd15282
    Location:611862
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
  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
    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
    pfam07562
    Location:540591
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cd15282
    Location:611862
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
  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

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

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