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

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; 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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

[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].
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.
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.
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.
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.
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.
Promiscuous G-protein activation by the calcium-sensing receptor.
Title: Promiscuous G-protein activation by the calcium-sensing receptor.
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.
Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.
Title: Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.
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 EBI GWAS CatalogPubMed
Common genetic variants associate with serum phosphorus concentration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103474 (e-PCR)
- UniSTS:97799

SHGC-35350 (e-PCR)
- UniSTS:11541

RH99210 (e-PCR)
- UniSTS:91222

SHGC-77256 (e-PCR)
- UniSTS:7521

D3S3193 (e-PCR)
- UniSTS:153516

SHGC-84714 (e-PCR)
- UniSTS:104110

RH121068 (e-PCR)
- UniSTS:132289

SHGC-147441 (e-PCR)
- UniSTS:175811

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

NG_009058.2 RefSeqGene

Range

5001..112962

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

122183668..122291629

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060927.1 Alternate T2T-CHM13v2.0

Range

124903258..125011238

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054348094.1 → XP_054204069.1 extracellular calcium-sensing receptor isoform X1
XM_054348097.1 → XP_054204072.1 extracellular calcium-sensing receptor isoform X2
XM_054348095.1 → XP_054204070.1 extracellular calcium-sensing receptor isoform X1
XM_054348096.1 → XP_054204071.1 extracellular calcium-sensing receptor isoform X1