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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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CASR
Gene Tree: Casr

Human
homologs
CASR, calcium-sensing receptor
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 846
neXtProt AC: NX_P41180

Human Synonyms: CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1

Human Chr (Location): 3q13; chr3:122183667-122286503 (+)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human CASR

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(6) Chemically induced (other)(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Casr (3)    Mutations Annotated to Human Diseases (7)    Phenotype Images(1)
Interactions
Casr interacts with 131 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (11 records)
Data Summary: Results (98)    Tissues (71)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 82
Western blot 3
RT-PCR 13
cDNA source data(6)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA CASR    NEW 
Molecular
reagents
All nucleic(14) Genomic(2) cDNA(6) 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)
DFCI TC1587853
DoTS DT.101358530, DT.87049703, DT.91416309
NIA Mouse Gene Index U159133, U201545
Consensus CDS Project CCDS28154.1
International Mouse Phenotyping Consortium Status Casr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037977 VEGA Gene Model | MGI Sequence Detail 68446 C57BL/6J ±  kb
transcript OTTMUST00000097874 VEGA | MGI Sequence Detail 4534 Not Applicable 
polypeptide OTTMUSP00000054890 VEGA | MGI Sequence Detail 1079 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(16) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(445 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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
InterPro IPR028082 Periplasmic binding protein-like I
InterPro IPR001828 Receptor, ligand binding region
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:215936 Cheng SX, et al., Epithelial CaSR deficiency alters intestinal integrity and promotes proinflammatory immune responses. FEBS Lett. 2014 Nov 17;588(22):4158-66
All references(87)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-28074, MGI:104782

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory