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CASR calcium sensing receptor [ Homo sapiens (human) ]

Gene ID: 846, updated on 1-Jun-2020

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

Genomic context

See CASR in Genome Data Viewer
Location:
3q13.33-q21.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122183668..122291629)
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 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
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: C0342637 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

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
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding 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 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
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
 
bile acid secretion 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 IBA
Inferred from Biological aspect of Ancestor
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 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
detection of calcium ion IBA
Inferred from Biological aspect of Ancestor
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 ERK1 and ERK2 cascade 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
 
regulation of calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 terminus IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

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)

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
    ENSP00000491584.1, ENST00000639785.1
  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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    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
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