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CASR calcium sensing receptor [ Homo sapiens (human) ]

Gene ID: 846, updated on 12-Nov-2024

Summary

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

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See CASR in Genome Data Viewer
Location:
3q13.33-q21.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122183668..122291629)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124903258..125011238)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121902515..122010476)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:121711615-121712116 Neighboring gene Sharpr-MPRA regulatory region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20352 Neighboring gene NANOG hESC enhancer GRCh37_chr3:121724759-121725260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14638 Neighboring gene immunoglobulin like domain containing receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20363 Neighboring gene CD86 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20365 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:121983934-121984035 Neighboring gene NANOG hESC enhancer GRCh37_chr3:122026434-122026982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20366 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene cystatin A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].
    Title: [Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].
  2. Association of single nucleotide genetic polymorphisms of vitamin D receptor and calcium-sensitive receptor with calcium-containing kidney stones in Chinese Dai populations: a prospective multi-center study.
    Title: Association of single nucleotide genetic polymorphisms of vitamin D receptor and calcium-sensitive receptor with calcium-containing kidney stones in Chinese Dai populations: a prospective multi-center study.
  3. The calcium-sensing-receptor (CaSR) in adipocytes contributes to sex-differences in the susceptibility to high fat diet induced obesity and atherosclerosis.
    Title: The calcium-sensing-receptor (CaSR) in adipocytes contributes to sex-differences in the susceptibility to high fat diet induced obesity and atherosclerosis.
  4. Calcium-sensing Receptor, a Potential Biomarker Revealed by Large-scale Public Databases and Experimental Verification in Metastatic Breast Cancer.
    Title: Calcium-sensing Receptor, a Potential Biomarker Revealed by Large-scale Public Databases and Experimental Verification in Metastatic Breast Cancer.
  5. Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids.
    Title: Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids.
  6. Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
    Title: Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
  7. Promiscuous G-protein activation by the calcium-sensing receptor.
    Title: Promiscuous G-protein activation by the calcium-sensing receptor.
  8. Allosteric modulation and G-protein selectivity of the Ca[2+]-sensing receptor.
    Title: Allosteric modulation and G-protein selectivity of the Ca(2+)-sensing receptor.
  9. Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.
    Title: Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.
  10. Expression of the Calcium-Sensing Receptor on Normal and Abnormal Parathyroid and Thyroid Tissue.
    Title: Expression of the Calcium-Sensing Receptor on Normal and Abnormal Parathyroid and Thyroid Tissue.
Submit: New GeneRIF Correction See all GeneRIFs (432)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal dominant hypocalcemia 1
MedGen: C0342345 OMIM: 601198 GeneReviews: Not available
not available
Epilepsy, idiopathic generalized, susceptibility to, 8
MedGen: C2752062 OMIM: 612899 GeneReviews: Not available
not available
Familial hypocalciuric hypercalcemia 1
MedGen: C0342637 OMIM: 145980 GeneReviews: Not available
not available
Neonatal severe primary hyperparathyroidism
MedGen: C1832615 OMIM: 239200 GeneReviews: Not available
not available

EBI 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.
EBI GWAS Catalog
Common genetic variants associate with serum phosphorus concentration.
EBI GWAS Catalog
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
EBI GWAS Catalog
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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
  
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
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 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 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
  
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 intracellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
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 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
  
involved_in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
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 glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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

    Status: REVIEWED

    Source sequence(s)
    AC068630, AC068754, AC083798
    Consensus CDS
    CCDS3010.1
    UniProtKB/Swiss-Prot
    P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
    UniProtKB/TrEMBL
    A0A1X7SBX3
    Related
    ENSP00000491584.2, ENST00000639785.2
    Conserved Domains (3) summary
    cd15282
    Location:611 → 862
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
    cd06364
    Location:33 → 530
    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
    pfam07562
    Location:538 → 591
    NCD3G; Nine Cysteines Domain of family 3 GPCR

  2. NM_001178065.2 → NP_001171536.2  extracellular calcium-sensing receptor isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC068630, AC068754, AC083798
    Consensus CDS
    CCDS54632.1
    UniProtKB/TrEMBL
    A0A1X7SBX3
    Related
    ENSP00000420194.1, ENST00000498619.4
    Conserved Domains (3) summary
    cd15282
    Location:621 → 872
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
    pfam07562
    Location:548 → 601
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cd06364
    Location:33 → 530
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006713789.4 → XP_006713852.1  extracellular calcium-sensing receptor isoform X1

    See identical proteins and their annotated locations for XP_006713852.1

    UniProtKB/Swiss-Prot
    P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
    UniProtKB/TrEMBL
    A0A1X7SBX3
    Related
    ENSP00000492190.1, ENST00000638421.1
    Conserved Domains (3) summary
    cd15282
    Location:611 → 862
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
    cd06364
    Location:33 → 530
    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
    pfam07562
    Location:538 → 591
    NCD3G; Nine Cysteines Domain of family 3 GPCR

  2. XM_047449065.1 → XP_047305021.1  extracellular calcium-sensing receptor isoform X2

  3. XM_017007324.2 → XP_016862813.1  extracellular calcium-sensing receptor isoform X1

    UniProtKB/Swiss-Prot
    P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
    UniProtKB/TrEMBL
    A0A1X7SBX3
    Conserved Domains (3) summary
    cd15282
    Location:611 → 862
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
    cd06364
    Location:33 → 530
    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
    pfam07562
    Location:538 → 591
    NCD3G; Nine Cysteines Domain of family 3 GPCR

  4. XM_017007325.2 → XP_016862814.1  extracellular calcium-sensing receptor isoform X1

    UniProtKB/Swiss-Prot
    P41180, Q13912, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
    UniProtKB/TrEMBL
    A0A1X7SBX3
    Related
    ENSP00000418685.2, ENST00000490131.7
    Conserved Domains (3) summary
    cd15282
    Location:611 → 862
    7tmC_CaSR; calcium-sensing receptor, member of the class C of seven-transmembrane G protein-coupled receptors
    cd06364
    Location:33 → 530
    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
    pfam07562
    Location:538 → 591
    NCD3G; Nine Cysteines Domain of family 3 GPCR

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    124903258..125011238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348094.1 → XP_054204069.1  extracellular calcium-sensing receptor isoform X1

  2. XM_054348097.1 → XP_054204072.1  extracellular calcium-sensing receptor isoform X2

  3. XM_054348095.1 → XP_054204070.1  extracellular calcium-sensing receptor isoform X1

  4. XM_054348096.1 → XP_054204071.1  extracellular calcium-sensing receptor isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P41180.3 GenPept UniProtKB/Swiss-Prot:P41180

Gene LinkOut

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