About   Help   FAQ
Casr Gene Detail
Summary
  • Symbol
    Casr
  • Name
    calcium-sensing receptor
  • Synonyms
    CaR, cation sensing receptor, Gprc2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351351
    NCBI Gene: 12374
  • Gene Overview
    MyGene.info: CASR
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr16:36493696-36562141 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      68446 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 25.57 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CASR, calcium sensing receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CASR, calcium sensing receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAR, EIG8, FHH, FIH, GPRC2A, hCasR, HHC, HHC1, HYPOC1, NSHPT, PCAR1
  • Links
    NCBI Gene ID: 846
    neXtProt AC: NX_P41180
    UniProt: P41180

  • Chr Location
    3q13.33-q21.1; chr3:122183683-122286503 (+)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 332
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CASR
  • Gene Tree
    Casr
Human Diseases
more
  • Diseases
    3 with Casr mouse models; 3 with human CASR associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 7 models
      
IDs
 View 6 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    58 phenotypes from 9 alleles in 14 genetic backgrounds
    1 images
    51 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    122
  • Tissues
    92
  • cDNA Data
    6
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      445 from dbSNP Build 142
    • RFLP
      1
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 2
      cDNA 6
      Primer pair 6
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-28074, MGI:104782
    References
    more
    • Summaries
      All 109
      Developmental Gene Expression 12
      Diseases 3
      Gene Ontology 6
      Phenotypes 51
    • 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:261413 Fan Y, et al., Interrelated role of Klotho and calcium-sensing receptor in parathyroid hormone synthesis and parathyroid hyperplasia. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):E3749-E3758
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    06/05/2018
    MGI 6.12     		The Jackson Laboratory