Casr
Gene Detail

Symbol Name ID

Casr calcium-sensing receptor MGI:1351351

Synonyms

CaR, cation sensing receptor, Gprc2a

Feature Type

protein coding gene

Genetic Map

Chromosome 16

25.57 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr16:36493696-36562141 bp, - strand From VEGA annotation of GRCm38   68446 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:332  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Casr

Human homologs

Human Homolog		CASR, calcium-sensing receptor
NCBI Gene ID		846
neXtProt AC		NX_P41180
Human Synonyms		CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1
Human Chr (Location)		3q13; chr3:121902530-122005344 (+)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human CASR

Alleles and phenotypes

All alleles(11) : Targeted(4) Chemically induced(7)
 

Homozygotes for a targeted null mutation exhibit high levels of serum calcium and parathyroid hormone, parathyroid hyperplasia, bone defects, reduced growth, and early death. Carriers have elevated serum calcium, magnesium, and parathyroid hormone levels.

 
Human Diseases Modeled Using Mouse Casr (3)    Alleles Annotated to Human Diseases(7)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (43 annotations)

Process	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway, branching morphogenesis of an epithelial tube, ...
Component	apical plasma membrane, axon, ...
Function	calcium ion binding, drug binding, ...

External Resources: FuncBase

Expression

Literature Summary: (9 records)
Data Summary: Results (68)    Tissues (41)    Images (22)
Theiler Stages: 17, 18, 19, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	52
Western blot	3
RT-PCR	13

cDNA source data(5)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(13) Genomic(2) cDNA(5) Primer pair(5) Other(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000037977 (Evidence)
Ensembl Gene Model	ENSMUSG00000051980 (Evidence)
Entrez Gene	12374 (Evidence)
UniGene	103619
DFCI	TC1587853
DoTS	DT.101358530, DT.87049703
NIA Mouse Gene Index	U159133
Consensus CDS Project	CCDS28154.1
International Mouse Knockout Project Status	Casr

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037977	VEGA Gene Model | MGI Sequence Detail	68446	C57BL/6J
transcript	OTTMUST00000097874	VEGA | MGI Sequence Detail	4534	Not Applicable
polypeptide	OTTMUSP00000054890	VEGA | MGI Sequence Detail	1079	Not Applicable

All sequences(36) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs within 2kb(445 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR001828	Extracellular ligand-binding receptor
InterPro	IPR000337	GPCR, family 3
InterPro	IPR017979	GPCR, family 3, conserved site
InterPro	IPR017978	GPCR, family 3, C-terminal
InterPro	IPR011500	GPCR, family 3, nine cysteines domain
Protein Ontology	PR:000005058	extracellular calcium-sensing receptor

References

(Earliest) J:43659 Pollak MR, et al., Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism [see comments]. Cell. 1993 Dec 31;75(7):1297-303
(Latest) J:202283 Mamillapalli R, et al., Mammary-specific ablation of the calcium-sensing receptor during lactation alters maternal calcium metabolism, milk calcium transport, and neonatal calcium accrual. Endocrinology. 2013 Sep;154(9):3031-42
All references(85)

Other accession IDs

MGD-MRK-28074, MGI:104782