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CASR Gene

protein-coding   GIFtS: 69
GCID: GC03P121902

Calcium-Sensing Receptor

(Previous name: hypocalciuric hypercalcemia 1)
(Previous symbols: HHC, HHC1)
  See CASR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium-Sensing Receptor1 2     Hypocalciuric Hypercalcemia 11
HHC11 2 5     Severe Neonatal Hyperparathyroidism1
PCAR12 3 5     CAR2
HHC1 2     FHH2
Parathyroid Cell Calcium-Sensing Receptor 12 3     NSHPT2
GPRC2A2 3     Extracellular Calcium-Sensing Receptor2
EIG82 5     Parathyroid Ca(2+)-Sensing Receptor 12
FIH2 5     CaSR3
HYPOC12 5     PCaR13

External Ids:    HGNC: 15141   Entrez Gene: 8462   Ensembl: ENSG000000368287   OMIM: 6011995   UniProtKB: P411803   

Export aliases for CASR gene to outside databases

Previous GC identifers: GC03P118638 GC03P121820 GC03P123183 GC03P123223 GC03P123385 GC03P119276


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CASR Gene:
The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone
(PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small
changes in circulating calcium concentration and couples this information to intracellular signaling pathways
that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining
mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated
hypoparathyroidism, and neonatal severe primary hyperparathyroidism. (provided by RefSeq, Jul 2008)

GeneCards Summary for CASR Gene:
CASR (calcium-sensing receptor) is a protein-coding gene. Diseases associated with CASR include hypercalcemia, and casr-related disorders. GO annotations related to this gene include G-protein coupled receptor activity and phosphatidylinositol phospholipase C activity.

UniProtKB/Swiss-Prot: CASR_HUMAN, P41180
Function: Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is
mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system

summary for CASR Gene:
Activation of an ERK signaling pathway often involves regulation of cell division, migration and survival;
dysregulation of these pathways has been associated with various diseases, including cancer. ERK signaling
has also been linked to the positive regulation of synaptic plasticity and long-term potentiation (LTP).

Gene Wiki entry for CASR (Calcium-sensing receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASR gene promoter:
         AP-1   POU2F1   Pax-5   FOXO4   POU2F1a   HFH-1   Ik-3   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASR promoter sequence
   Search Chromatin IP Primers for CASR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q13   Ensembl cytogenetic band:  3q21.1   HGNC cytogenetic band: 3q21.1

CASR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASR gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P121902:  view genomic region     (about GC identifiers)

Start:
121,902,530 bp from pter      End:
122,005,344 bp from pter
Size:
102,815 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CASR_HUMAN, P41180 (See protein sequence)
Recommended Name: Extracellular calcium-sensing receptor precursor  
Size: 1078 amino acids; 120674 Da
Subunit: Interacts with VCP and RNF19A. Interacts with ARRB1 (By similarity)
Secondary accessions: Q13912 Q16108 Q16109 Q16110 Q16379 Q2M1T0 Q4PJ19
Alternative splicing: 2 isoforms:  P41180-1   P41180-2   

Explore the universe of human proteins at neXtProt for CASR: NX_P41180

Explore proteomics data for CASR at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Ubiquitinated by RNF19A; which induces proteasomal degradation1
  • Glycosylation2 at Asn90, Asn130, Asn261, Asn287, Asn386, Asn400, Asn446, Asn468, Asn488, Asn541,
                                 Asn594
  • Modification sites at PhosphoSitePlus

  • See CASR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000379.2  NP_001171536.1  

    ENSEMBL proteins: 
     ENSP00000418685   ENSP00000420194   ENSP00000296154  
    Reactome Protein details: P41180

    CASR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CASR
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CASR
    GenScript Custom Purified and Recombinant Proteins Services for CASR
    Novus Biologicals CASR Proteins
    Novus Biologicals CASR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASR

     
    Search eBioscience for Proteins for CASR 

    CASR Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CASR
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CASR
    OriGene Custom Antibody Services for CASR
    Novus Biologicals CASR Antibodies
    Abcam antibodies for CASR
    Cloud-Clone Corp. Antibodies for CASR
    ThermoFisher Antibody for CASR
    LSBio Antibodies in human, mouse, rat for CASR

    CASR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CASR
    Browse R&D Systems for biochemical assays
    GenScript CASR-overexpressing Cell Line for Assay
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CASR
    Cloud-Clone Corp. CLIAs for CASR
    Search eBioscience for ELISAs for CASR 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CASR: GPCR / Class C : Calcium-sensing receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: CaS receptor
    Calcium-sensing receptors

    Selected InterPro protein domains (see all 6):
     IPR011500 GPCR_3_9-Cys_dom
     IPR028082 Peripla_BP_I
     IPR000337 GPCR_3
     IPR017979 GPCR_3_CS
     IPR017978 GPCR_3_C

    Graphical View of Domain Structure for InterPro Entry P41180

    ProtoNet protein and cluster: P41180

    3 Blocks protein domains:
    IPB000068 Extracellular calcium-sensing receptor signature
    IPB000337 G-protein coupled receptors family 3 (Metabotropic glutamate receptor-like)
    IPB001828 Extracellular ligand-binding receptor


    UniProtKB/Swiss-Prot: CASR_HUMAN, P41180
    Similarity: Belongs to the G-protein coupled receptor 3 family


    Find genes that share domains with CASR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASR_HUMAN, P41180
    Function: Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is
    mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system

         Genatlas biochemistry entry for CASR:
    extracellular calcium sensing receptor gene 1,bovine homolog,expressed in parathyroid cells,C cells of
    thyroid,also expressed in kidney on the basolateral surface of cells of the thick ascending limbs,and on the
    luminal surface of cells of the papillary collecting duct,also expressed in the brain,in pancreatic islet B cells
    and putatively involved in the regulation of insulin release,G protein coupled receptor superfamily,activating
    phospholipase C

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding ----
    GO:0004435phosphatidylinositol phospholipase C activity TAS7874174
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005178integrin binding ----
    GO:0005509calcium ion binding ----
         
    Find genes that share ontologies with CASR           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Casr) (see all 16):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     muscle  other  pigmentation  renal/urinary system  skeleton 

    Find genes that share phenotypes with CASR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Casrtm1Ces for CASR

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CASR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASR

    miRNA
    Products:
        
    miRTarBase miRNAs that target CASR:
    hsa-mir-31-5p (MIRT004597), hsa-mir-135b-5p (MIRT007298)

    Block miRNA regulation of human, mouse, rat CASR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CASR (see all 16):
    hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-497 hsa-miR-646 hsa-miR-200c hsa-miR-424 hsa-miR-369-3p
    SwitchGear 3'UTR luciferase reporter plasmidCASR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CASR
    Predesigned siRNA for gene silencing in human, mouse, rat CASR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CASR

    Clone
    Products:
         
    OriGene clones in human, mouse for CASR (see all 10)
    OriGene ORF clones in mouse, rat for CASR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CASR (NM_001178065)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASR

    Cell Line
    Products:
         
    GenScript CASR-overexpressing Cell Line for Assay
    Browse ESI BIO Cell Lines and PureStem Progenitors for CASR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASR

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-14095) for CASR 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CASR_HUMAN, P41180: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton3
    endoplasmic reticulum2
    extracellular2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7759551
    GO:0009986cell surface ----

    Find genes that share ontologies with CASR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CASR About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    3Peptide ligand-binding receptors
    GPCR ligand binding0.71
    G alpha (i) signalling events0.44
    4Taste transduction
    Class C/3 (Metabotropic glutamate/pheromone receptors)0.45
    5Proton Pump Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics


    Find genes that share SuperPaths with CASR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for CASR
        GPCRs, Class C Metabotropic glutamate, pheromone
    E-cadherin signaling in keratinocytes

    3 Reactome Pathways for CASR
        G alpha (q) signalling events
    Class C/3 (Metabotropic glutamate/pheromone receptors)
    G alpha (i) signalling events

    1 PharmGKB Pathway for CASR
        Proton Pump Inhibitor Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASR: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CASR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CASR (P411801, 3 ENSP000002961544) via UniProtKB, MINT, STRING, and/or I2D (see all 264)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF19AQ9NV583, ENSP000003426674I2D: score=2 STRING: ENSP00000342667
    CHD8Q9HCK83, ENSP000004062884I2D: score=1 STRING: ENSP00000406288
    PRKCBP057713, ENSP000003053554I2D: score=1 STRING: ENSP00000305355
    PRKCGP051293, ENSP000002634314I2D: score=1 STRING: ENSP00000263431
    VCPP550723, ENSP000003517774I2D: score=1 STRING: ENSP00000351777
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification TAS7874174
    GO:0002931response to ischemia ----
    GO:0005513detection of calcium ion TAS7759551
    GO:0006816calcium ion transport ----
    GO:0006874cellular calcium ion homeostasis TAS7874174

    Find genes that share ontologies with CASR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for CASR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Calhex 231 hydrochlorideNegative allosteric modulator of the calcium-sensing receptor[652973-93-8]
    Strontium chlorideCalcium sensing receptor (CaSR) agonist[10476-85-4]
    NPS 2143 hydrochlorideSelective antagonist of the calcium-sensing receptor; orally active calcilytic agent[284035-33-2]
    R 568 hydrochloridePositive allosteric modulator of the human calcium-sensing receptor[177172-49-5]

    1 HMDB Compound for CASR    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for CASR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cinacalcet-- 226256-56-0targetagonist16030053 19461861 15884662 19181759 15864123 11752352 15794735 19056615 19261825 16109140

    Selected IUPHAR Ligands for CASR (CaS receptor) (see all 11)    About this table
    LigandTypeActionAffinityPubmed IDs
    AC265347
    Allosteric regulatorPositive7.6 - 8.121239511
    NPS 2143
    AntagonistAntagonist7.1 - 7.415686947 11561095
    cinacalcet
    Allosteric regulatorPositive7.314593085
    2-methyl-3-phenethyl-3H-pyrimidin-4-one (cmp 2H)
    AntagonistAntagonist715863312
    compound (S)-3h [PMID:15686947]
    AntagonistAntagonist6.915686947
    NPS R-568
    Allosteric regulatorPositive6.59520489
    calindol
    Allosteric regulatorPositive6.514976203
    calhex 231
    Allosteric regulatorNegative6.414506236
    L-tryptophan
    Allosteric regulatorPositive2.6 - 4.410781086 15234970
    spermine
    AgonistFull agonist3.59357776

    Selected Novoseek inferred chemical compound relationships for CASR gene (see all 58)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cinacalcet 93.3 34 15864123 (2), 15794735 (1), 18634360 (1), 15689407 (1) (see all 26)
    calcium 84.6 1733 16316325 (7), 12815330 (7), 17693759 (7), 17054460 (6) (see all 99)
    vitamin d 79.9 116 19621386 (6), 19706842 (3), 10971456 (3), 16109139 (2) (see all 66)
    calcitriol 71 13 18556746 (2), 10372837 (1), 12386262 (1), 18199601 (1) (see all 10)
    22-oxacalcitriol 68.1 1 11799271 (1)
    prepro-pth 67.6 1 9916869 (1)
    strontium ranelate 65.4 16 19563530 (2), 15985213 (1), 17437947 (1), 18378206 (1)
    neomycin 64.6 18 17537980 (2), 19088423 (2), 18096456 (1), 18577871 (1) (see all 11)
    phosphorus 61.7 11 15794735 (1), 16232374 (1), 19560849 (1), 8076142 (1) (see all 8)
    sevelamer 58.3 1 15669206 (1)



    Find genes that share compounds with CASR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CASR gene (2 alternative transcripts): 
    NM_000388.3  NM_001178065.1  

    Unigene Cluster for CASR:

    Calcium-sensing receptor
    Hs.435615  [show with all ESTs]
    Unigene Representative Sequence: NM_001178065
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490131 ENST00000498619(uc003eev.4 uc003eew.4) ENST00000490186
    ENST00000296154
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CASR (see all 16):
    hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-497 hsa-miR-646 hsa-miR-200c hsa-miR-424 hsa-miR-369-3p
    SwitchGear 3'UTR luciferase reporter plasmidCASR 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CASR
    Predesigned siRNA for gene silencing in human, mouse, rat CASR
    Clone
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    OriGene clones in human, mouse for CASR (see all 10)
    OriGene ORF clones in mouse, rat for CASR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CASR (NM_001178065)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASR
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CASR
    OriGene qSTAR qPCR primer pairs in human, mouse for CASR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASR
      QuantiTect SYBR Green Assays in human, mouse, rat CASR
      QuantiFast Probe-based Assays in human, mouse, rat CASR
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-14095) for CASR 

    Additional mRNA sequence: 

    BC104999.1 BC112236.1 D50855.1 FJ360896.1 S79217.1 S81755.1 S83176.1 U20759.1 
    U20760.1 

    5 DOTS entries:

    DT.91724033  DT.313332  DT.97825513  DT.306656  DT.40259118 

    Selected AceView cDNA sequences (see all 53):

    AA297525 NM_000388 S83176 BM052980 BM052703 W56898 AA782127 BF594614 
    AA937218 BF439436 AA862999 AA844290 AI766210 AA846660 AI079788 AA854191 
    BV183242 CK903923 AA724807 AW194942 AI052051 D50855 S81755 AA781707 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CASR    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
    SP1:                                          
    SP2:                          -               


    ECgene alternative splicing isoforms for CASR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CASR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCGTCAT
    CASR Expression
    About this image


    CASR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Kidney (Urinary System)
    CASR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435615

    UniProtKB/Swiss-Prot: CASR_HUMAN, P41180
    Tissue specificity: Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also
    found in kidney, lung, liver, heart, skeletal muscle, placenta

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CASR gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casr1 , 5 calcium-sensing receptor1, 5 87.38(n)1
    93.51(a)1
      16 (25.57 cM)5
    123741  NM_013803.21  NP_038831.21 
     364936965 
    chicken
    (Gallus gallus)
    Aves CASR1 calcium-sensing receptor 80.54(n)
    87.89(a)
      418266  XM_416491.4  XP_416491.3 
    lizard
    (Anolis carolinensis)
    Reptilia CASR6
    calcium-sensing receptor
    84(a)
    1 ↔ 1
    GL343218.1(261563-303937)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004965051 extracellular calcium-sensing receptor-like 74.05(n)
    78.72(a)
      100496505  XM_004919785.1  XP_004919842.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5606071 extracellular calcium-sensing receptor-like 70.67(n)
    75.98(a)
      560607  XM_684005.3  XP_689097.1 


    ENSEMBL Gene Tree for CASR (if available)
    TreeFam Gene Tree for CASR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CASR gene
    13 SIMAP similar genes for CASR using alignment to 10 protein entries:     CASR_HUMAN (see all proteins):
    GPCR    GRM8    GRM2    GRM7    GPRC6A    TAS1R1
    GRM4    GRM3    GRM5    GRM1    GRM6    TAS1R3
    TAS1R2

    Find genes that share paralogs with CASR           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for CASR (see all 10)
    PGOHUM00000242293 PGOHUM00000234432 PGOHUM00000234434 PGOHUM00000234453 PGOHUM00000238241


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CASR (see all 2521)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366841,2,,4
    CHyperparathyroidism, neonatal severe (NSHPT)4 pathogenic1121948349(+) ATTCCA/G/TAGAGG 6 Q R L mis1 ese30--------
    VAR_0580494
    Hypocalciuric hypercalcemia, familial 1 (HHC1)4--see VAR_0580492 G R mis40--------
    VAR_0580664
    Hypocalciuric hypercalcemia, familial 1 (HHC1)4--see VAR_0580662 G R mis40--------
    VAR_0580764
    Hypocalciuric hypercalcemia, familial 1 (HHC1)4--see VAR_0580762 V F mis40--------
    VAR_0035994
    Hypocalciuric hypercalcemia, familial 1 (HHC1)4--see VAR_0035992 R W mis40--------
    VAR_0602074
    Epilepsy, idiopathic generalized 8 (EIG8)4--see VAR_0602072 I V mis40--------
    VAR_0580824
    Hypocalcemia, autosomal dominant 1 (HYPOC1)4--see VAR_0580822 A E mis40--------
    VAR_0580684
    Hypocalciuric hypercalcemia, familial 1 (HHC1)4--see VAR_0580682 C Y mis40--------
    VAR_0580624
    Hypocalciuric hypercalcemia, familial 1 (HHC1)4--see VAR_0580622 S F mis40--------
    VAR_0035914
    Hypocalciuric hypercalcemia, familial 1 (HHC1)4--see VAR_0035912 G E mis40--------

    HapMap Linkage Disequilibrium report for CASR (121902530 - 122005344 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CASR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677822CNV Deletion23128226
    dgv5237n71CNV Loss21882294
    nsv877389CNV Loss21882294
    esv33139CNV Loss17666407
    nsv517368CNV Loss19592680
    nsv877387CNV Loss21882294
    nsv877390CNV Gain21882294

    Human Gene Mutation Database (HGMD): CASR
    Locus Specific Mutation Databases (LSDB): CASR

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601199   
    OMIM disorders: 145980  239200  601198  612899  
    UniProtKB/Swiss-Prot: CASR_HUMAN, P41180
  • Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]: A form of hypocalciuric hypercalcemia, a
    disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of
    penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is
    associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating
    parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic
    and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]: A disorder characterized by severe
    hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If
    untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without
    parathyroidectomy. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]: A disorder of mineral homeostasis characterized
    by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease
    manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures,
    hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients
    manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic
    alkalosis, hyperreninemia, and hyperaldosteronemia. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]: A disorder characterized by recurring generalized
    seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable,
    but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized
    tonic-clonic seizures. Note=Disease susceptibility is associated with variations affecting the gene represented
    in this entry
  • Note=Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients
    suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations

  • Selected diseases for CASR (see all 36):    
    About MalaCards
    hypercalcemia    casr-related disorders    hypocalcemia, autosomal dominant    familial hypocalciuric hypercalcemia type 1
    hypercalciuric hypercalcemia    casr-associated familial isolated hypoparathyroidism    hyperparathyroidism, neonatal    hypocalciuric hypercalcemia, type i
    hyperparathyroidism, neonatal severe primary    metastatic insulinoma    familial hypocalciuric hypercalcemia    hypoparathyroidism familial isolated
    hypocalcemia, autosomal dominant, with bartter syndrome    casr-related familial isolated hypoparathyroidism    calcium, serum level of    epilepsy, idiopathic generalized, susceptibility to, 8
    hyperparathyroidism-jaw tumor syndrome    hyperparathyroidism    calciphylaxis    autoimmune hypoparathyroidism

    9 diseases from the University of Copenhagen DISEASES database for CASR:
    Hyperparathyroidism     Hypercalcemia     Hypoparathyroidism     Kidney disease
    Hemochromatosis     Hyperphosphatemia     Parathyroid carcinoma     Osteoporosis
    Calcinosis

    Find genes that share disorders with CASR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CASR gene (see all 85)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypocalcemia, autosomal dominant 95.9 48 15551332 (4), 11013439 (2), 17664687 (2), 11289719 (2) (see all 25)
    nshpt 95 31 17555508 (3), 9253359 (3), 9217223 (2), 9109436 (1) (see all 21)
    hyperparathyroidism secondary 90.6 38 11044218 (2), 19839774 (2), 16109139 (1), 15466262 (1) (see all 31)
    hypercalcemia 89.8 155 10468915 (5), 19694204 (3), 15241791 (3), 11857921 (3) (see all 83)
    hyperparathyroidism 87.9 79 8675635 (2), 16596260 (2), 11668634 (2), 12173690 (2) (see all 49)
    hypocalcemia 87.3 52 8813042 (3), 19915295 (3), 9920108 (2), 16596058 (2) (see all 30)
    hypoparathyroidism 86.4 75 14713274 (3), 15356052 (2), 8813042 (2), 16983178 (2) (see all 44)
    hyperparathyroidism primary 82.6 30 19520070 (4), 19567535 (2), 17853337 (1), 20164288 (1) (see all 21)
    hypercalciuria 81.9 44 17332735 (3), 12239240 (2), 15613438 (2), 8813042 (2) (see all 24)
    hyperphosphatemia 78.3 2 15490408 (1), 19580466 (1)

    Genetic Association Database (GAD): CASR
    Human Genome Epidemiology (HuGE) Navigator: CASR (81 documents)

    Export disorders for CASR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CASR gene, integrated from 10 sources (see all 804):
    (articles sorted by number of sources associating them with CASR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. (PubMed id 15531522)1, 2, 4, 9 Scillitani A.... Cole D.E.C. (J. Clin. Endocrinol. Metab. 2004)
    2. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. (PubMed id 14985373)1, 2, 4, 9 Warner J.... Cardinal J. (J. Med. Genet. 2004)
    3. Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. (PubMed id 17698911)1, 2, 4, 9 Nissen P.H....Mosekilde L. (J. Clin. Endocrinol. Metab. 2007)
    4. Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. (PubMed id 11161843)1, 2, 4, 9 Cole D.E.C....Rubin L.A. (Mol. Genet. Metab. 2001)
    5. Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney. (PubMed id 7677761)1, 2, 3 Aida K.... Onaya T. (Biochem. Biophys. Res. Commun. 1995)
    6. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. (PubMed id 7673400)1, 2, 4 Aida K.... Onaya T. (J. Clin. Endocrinol. Metab. 1995)
    7. Evidence supporting a role for the calcium-sensing receptor in Alzheimer disease. (PubMed id 19035514)1, 4, 9 Conley Y.P....Ferrell R.E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. Genetic variation in calcium-sensing receptor and risk for colon cancer. (PubMed id 18843020)1, 4, 9 Dong L.M....Peters U. (amp 2008)
    9. Identification of a novel inactivating R465Q mutation of the calcium- sensing receptor. (PubMed id 16598859)1, 2, 9 Leech C.... Spitzweg C. (Biochem. Biophys. Res. Commun. 2006)
    10. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. (PubMed id 20164288)1, 4, 9 Guarnieri V....Hendy G.N. (J. Clin. Endocrinol. Metab. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 846 HGNC: 1514 AceView: CASR Ensembl:ENSG00000036828 euGenes: HUgn846
    ECgene: CASR H-InvDB: CASR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CASR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CASR[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/casr/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CASR gene:
    Search GeneIP for patents involving CASR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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