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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:36314058-36382503 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 25.57 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1818 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351351
 protein coding gene Chr16:36310947-36382605 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022789
 protein coding gene Chr16:34893146-34961344 (-)
A/J MGP_AJ_G0022754
 protein coding gene Chr16:33174373-33243791 (-)
AKR/J MGP_AKRJ_G0022726
 protein coding gene Chr16:34425332-34503942 (-)
BALB/cJ MGP_BALBcJ_G0022755
 protein coding gene Chr16:33277474-33347620 (-)
C3H/HeJ MGP_C3HHeJ_G0022519
 protein coding gene Chr16:34557304-34627555 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023202
 protein coding gene Chr16:35714589-35789510 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020716
 protein coding gene Chr16:33534691-33607469 (-)
CAST/EiJ MGP_CASTEiJ_G0022045
 protein coding gene Chr16:34669498-34743781 (-)
CBA/J MGP_CBAJ_G0022490
 protein coding gene Chr16:37281393-37359345 (-)
DBA/2J MGP_DBA2J_G0022622
 protein coding gene Chr16:33063218-33132593 (-)
FVB/NJ MGP_FVBNJ_G0022597
 protein coding gene Chr16:33100147-33169115 (-)
LP/J MGP_LPJ_G0022690
 protein coding gene Chr16:34601619-34674101 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022616
 protein coding gene Chr16:36331138-36403137 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023217
 protein coding gene Chr16:34388363-34464683 (-)
PWK/PhJ MGP_PWKPhJ_G0021785
 protein coding gene Chr16:33456482-33529219 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021616
 protein coding gene Chr16:34306362-34375933 (-)
WSB/EiJ MGP_WSBEiJ_G0022089
 protein coding gene Chr16:34439652-34512819 (-)



Homology
more
  • Human Ortholog
    CASR, calcium sensing receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CASR, calcium sensing receptor
  • 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; chr3:122183668-122291629 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Casr mouse models; 10 with human CASR associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 7 models
IDs
 View 6 models
      
IDs
IDs
IDs
IDs
IDs
IDs
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
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  • Phenotype Summary
    63 phenotypes from 10 alleles in 15 genetic backgrounds
    1 images
    71 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
    92
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    836
  • Tissues
    95
  • cDNA Data
    7
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000051980 Ensembl Gene Model | MGI Sequence Detail 68446 C57BL/6J ±  kb
    transcript ENSMUST00000172826 Ensembl | MGI Sequence Detail 3659 Not Applicable  
    polypeptide ENSMUSP00000133500 Ensembl | MGI Sequence Detail 1079 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000005058 extracellular calcium-sensing receptor
      (term hierarchy)
    • InterPro Domains
      IPR000337 GPCR, family 3
      IPR017979 GPCR, family 3, conserved site
      IPR017978 GPCR family 3, C-terminal
      IPR000068 GPCR, family 3, extracellular calcium-sensing receptor-related
      IPR011500 GPCR, family 3, nine cysteines domain
      IPR038550 GPCR, family 3, nine cysteines domain superfamily
      IPR028082 Periplasmic binding protein-like I
      IPR001828 Receptor, ligand binding region
    • GlyGen
      Q9QY96 10 sites, 2 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 2
      cDNA 7
      Primer pair 8
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-28074, MGI:104782
    References
    more
    • Summaries
      All 141
      Developmental Gene Expression 15
      Diseases 3
      Gene Ontology 8
      Phenotypes 71
    • Earliest
      J:43659 Pollak MR, et al., Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993 Dec 31;75(7):1297-303
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory