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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
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
  • 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: HGNC, HomoloGene
  • Synonyms
    CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1
  • Links
    NCBI Gene ID: 846
    neXtProt AC: NX_P41180

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

  • HomoloGene
    Vertebrate Homology Class 332
    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
Human Diseases
more
  • Diseases
    4 with Casr mouse models; 5 with human CASR associations

Human Disease Mouse Models
       Hyperparathyroidism, Neonatal Severe; NSHPT   OMIM: 239200 View 1 model
Hypocalcemia, Autosomal Dominant 1; HYPOC1   OMIM: 601198 View 2 models
Hypocalciuric Hypercalcemia, Familial, Type I; HHC1   OMIM: 145980 View 7 models
       Hyperparathyroidism 1; HRPT1   OMIM: 145000 View 6 models
       Calcium-Sensing Receptor; CASR   OMIM: 601199
Epilepsy, Idiopathic Generalized, Susceptibility to, 8; EIG8   OMIM: 612899
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    58 phenotypes from 9 alleles in 14 genetic backgrounds
    1 images
    44 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.
  • All Mutations and Alleles
    14
  • Chemically induced (ENU)
    6
  • Chemically induced (other)
    1
  • Targeted
    7
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    445 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005058 extracellular calcium-sensing receptor
  • InterPro Domains
    IPR000337 GPCR, family 3
    IPR017979 GPCR, family 3, conserved site
    IPR017978 GPCR family 3, C-terminal
    IPR011500 GPCR, family 3, nine cysteines domain
    IPR028082 Periplasmic binding protein-like I
    IPR001828 Receptor, ligand binding region
Molecular
Reagents
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  • All nucleic 14
    Genomic 2
    cDNA 6
    Primer pair 5
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-28074, MGI:104782
References
more
  • Summaries
    All 87
    Developmental Gene Expression 11
    Diseases 4
    Gene Ontology 6
    Phenotypes 44
  • 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:226949 Hannan FM, et al., The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1). Endocrinology. 2015 Sep;156(9):3114-21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory