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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CAST Gene

protein-coding   GIFtS: 63
GCID: GC05P095865

Calpastatin

Alzheimer's & Parkinson's Diseases Congress
  See 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)
About This Section

Aliases
calpastatin1 2
Calpain Inhibitor2 3
Sperm BS-17 Component2 3
BS-172

External Ids:    HGNC: 15151   Entrez Gene: 8312   Ensembl: ENSG000001531137   OMIM: 1140905   UniProtKB: P208103   

Export aliases for CAST gene to outside databases

Previous GC identifers: GC05P095228 GC05P096462 GC05P096026 GC05P096085 GC05P096105 GC05P096036 GC05P091188


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CAST Gene:
The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It
consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is
involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous
membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded
protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins.
Alternatively spliced transcript variants encoding different isoforms have been described. (provided by RefSeq,
Jun 2010)

GeneCards Summary for CAST Gene: 
CAST (calpastatin) is a protein-coding gene. Diseases associated with CAST include rheumatic disease, and scrapie, and among its related super-pathways are nNOS Signaling in Skeletal Muscle. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: ICAL_HUMAN, P20810
Function: Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem
tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue

Gene Wiki entry for CAST (Calpastatin) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAST gene promoter:
         PPAR-gamma1   p53   SREBP-1a   SREBP-1c   MyoD   SREBP-1b   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAST promoter sequence
   Search SABiosciences Chromatin IP Primers for CAST

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAST


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

Entrez Gene cytogenetic band: 5q15   Ensembl cytogenetic band:  5q15   HGNC cytogenetic band: 5q15

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P095865:  view genomic region     (about GC identifiers)

Start:
95,860,971 bp from pter      End:
96,115,299 bp from pter
Size:
254,329 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ICAL_HUMAN, P20810 (See protein sequence)
Recommended Name: Calpastatin  
Size: 708 amino acids; 76573 Da
Sequence caution: Sequence=AAH16066.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: G5E946 G5E9D3 O95360 Q05DE8 Q7Z4K0 Q96D08 Q9H1Z5
Alternative splicing: 9 isoforms:  P20810-1   P20810-2   P20810-3   P20810-4   P20810-5   P20810-6   P20810-7   P20810-8   
P20810-9   (Gene prediction based on EST data. Contains a phosphoserine at position 11)

Explore the universe of human proteins at neXtProt for CAST: NX_P20810

Explore proteomics data for CAST at MOPED 

Post-translational modifications:

  • UniProtKB: The N-terminus is blocked
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20810

  • CAST Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CAST Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001035905.1  NP_001177371.1  NP_001271141.1  NP_001271142.1  NP_775083.1  

    ENSEMBL proteins: 
     ENSP00000422957   ENSP00000343421   ENSP00000425721   ENSP00000422951   ENSP00000379157  
     ENSP00000396558   ENSP00000422176   ENSP00000426422   ENSP00000422612   ENSP00000427092  
     ENSP00000421230   ENSP00000422677   ENSP00000339914   ENSP00000421130   ENSP00000312523  
     ENSP00000422325   ENSP00000422466   ENSP00000426946   ENSP00000423638   ENSP00000425670  
     ENSP00000422831   ENSP00000424160   ENSP00000412374   ENSP00000425787   ENSP00000423846  
     ENSP00000422807   ENSP00000422929   ENSP00000432878   ENSP00000427195   ENSP00000379158  
     ENSP00000352098   ENSP00000320319  

    Human Recombinant Protein Products for CAST: 
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    OriGene Protein Over-expression Lysate for CAST
    OriGene MassSpec for CAST 
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    GenScript Custom Purified and Recombinant Proteins Services for CAST
    Novus Biologicals CAST Proteins
    Novus Biologicals CAST Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAST 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane IEA--

    CAST for ontologies           About GeneDecksing



    CAST Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CAST
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CAST  (calpastatin)
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    Novus Biologicals CAST Antibodies
    Abcam antibodies for CAST
    Cloud-Clone Corp. Antibodies for CAST 
    ThermoFisher Antibody for CAST
    LSBio Antibodies in human, mouse, rat for CAST 

    Assay Products for CAST: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CAST
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CAST
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CAST 
    Cloud-Clone Corp. CLIAs for CAST


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001259 Prot_inh_calpain
     IPR026998 Calpastatin

    Graphical View of Domain Structure for InterPro Entry P20810

    ProtoNet protein and cluster: P20810

    1 Blocks protein domain: IPB001259 Calpain inhibitor repeat

    UniProtKB/Swiss-Prot: ICAL_HUMAN, P20810
    Domain: Each of the four flexible inhibitory domains can inhibit one calcium-bound calpain molecule by occupying
    both sides of the active site (By similarity)
    Similarity: Belongs to the protease inhibitor I27 (calpastatin) family


    CAST for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ICAL_HUMAN, P20810
    Function: Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem
    tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue

         Genatlas biochemistry entry for CAST:
    calpastatin,calcium dependent cysteine endopeptidase,calpain inhibitor

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS7638179
    GO:0004869cysteine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding IPI17474147
         
    CAST for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CAST:
     Increased cell death HMECs cel 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cast):
     cardiovascular system  cellular  homeostasis/metabolism  mortality/aging  nervous system 

    CAST for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CAST: Casttm1Tcs Casttm1.1(KOMP)Vlcg

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAST 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CAST

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAST
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate CAST (see all 35):
    hsa-miR-142-5p hsa-miR-4328 hsa-miR-3653 hsa-miR-374a* hsa-miR-3622b-3p hsa-miR-3658 hsa-miR-186 hsa-miR-374b*
    SwitchGear 3'UTR luciferase reporter plasmidCAST 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CAST
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAST

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CAST

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): CAST (NM_173060)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAST
    Sirion Biotech Customized lentivirus for stable overexpression of CAST 
                         Customized lentivirus expression plasmids for stable overexpression of CAST 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CAST
    Search LifeMap BioReagents cell lines for CAST
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAST


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CAST About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    Calpain Protease Regulates Cellular Mechanics0.31
    2Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CAST
        Calpain Protease Regulates Cellular Mechanics

    1 Cell Signaling Technology (CST) Pathway for CAST
        Neuroscience



    CAST for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CAST

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

    5/28 Interacting proteins for CAST (P208101, 2, 3 ENSP000003791584) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN2P176552, 3, ENSP000002950064MINT-6549073 I2D: score=1 STRING: ENSP00000295006
    CAPNS1P046322, 3, ENSP000002465334MINT-6549073 I2D: score=1 STRING: ENSP00000246533
    NCK1P163331, 3, ENSP000002889864EBI-1268770,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    CAPN1P073843, ENSP000002792474I2D: score=2 STRING: ENSP00000279247
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010466negative regulation of peptidase activity ----
    GO:0010951negative regulation of endopeptidase activity TAS7638179
    GO:2000675negative regulation of type B pancreatic cell apoptotic process IDA15044459

    CAST for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CAST for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CAST (ICAL)

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

    1 DrugBank Compound for CAST    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Calcium-- --target--17570336 17543955

    10/29 Novoseek inferred chemical compound relationships for CAST gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calpeptin 82.4 8 12494459 (2), 9268316 (1), 17650508 (1), 12588762 (1) (see all 7)
    e 64d 70.4 2 9268316 (1), 12631067 (1)
    cysteine 67.1 18 1743294 (1), 11943592 (1), 8393284 (1), 16472152 (1) (see all 17)
    mdl 28170 64.8 1 12588762 (1)
    cimaterol 61 4 7906151 (3), 1355730 (1)
    n-acetylleucylleucylnorleucinal 54.3 1 12670502 (1)
    calcium 53.5 55 7617440 (5), 19020623 (4), 9426287 (3), 12183659 (2) (see all 34)
    leupeptin 52 3 9268316 (1), 9917325 (1), 15746171 (1)
    lactacystin 49.7 4 10217432 (1), 12670502 (1), 9204885 (1), 9894609 (1)
    deae 39.5 1 9213221 (1)

    Search CenterWatch for drugs/clinical trials and news about CAST / ICAL

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CAST gene (15 alternative transcripts): 
    NM_001042440.3  NM_001190442.1  NM_001284212.1  NM_001284213.1  NM_173060.3  NM_001042441.1  NM_001042442.1  NM_001042443.1  
    NM_001042444.1  NM_001042445.1  NM_001042446.1  NM_001750.5  NM_173061.2  NM_173062.1  NM_173063.1  

    Unigene Cluster for CAST:

    Calpastatin
    Hs.436186  [show with all ESTs]
    Unigene Representative Sequence: NM_001042440
    18/45 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 45):
    ENST00000509602 ENST00000505143 ENST00000338252 ENST00000508830 ENST00000511097(uc021ybr.1)
    ENST00000395812(uc003klx.3) ENST00000515160 ENST00000507487 ENST00000421689
    ENST00000510756 ENST00000507836 ENST00000512620 ENST00000514845 ENST00000510245
    ENST00000506811 ENST00000514055 ENST00000508608 ENST00000341926

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAST
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate CAST (see all 35):
    hsa-miR-142-5p hsa-miR-4328 hsa-miR-3653 hsa-miR-374a* hsa-miR-3622b-3p hsa-miR-3658 hsa-miR-186 hsa-miR-374b*
    SwitchGear 3'UTR luciferase reporter plasmidCAST 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for CAST
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAST
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAST
    Sirion Biotech Customized lentivirus for stable overexpression of CAST 
                         Customized lentivirus expression plasmids for stable overexpression of CAST 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAST

    Additional mRNA sequence: 

    AB026049.1 AB208816.1 AF327443.1 AK026822.1 AK292289.1 AK292356.1 AK296919.1 AK297879.1 
    AK298541.1 AK299384.1 AK299402.1 AK300624.1 AK302206.1 AK303836.1 AK303900.1 AK311585.1 
    AK311598.1 AK314290.1 AK315146.1 AK315673.1 AL832174.1 AL832349.1 AY189741.1 BC013579.1 
    BC016066.1 BC078149.1 BT009783.1 BX647858.1 BX648397.1 D16217.1 D50827.1 M33328.1 
    M86258.1 NR_033798.1 S73329.1 U26724.2 U31345.1 U31346.1 U38525.1 

    24/52 DOTS entries (see all 52):

    DT.65284304  DT.98131800  DT.91782120  DT.100773028  DT.100850135  DT.120833725  DT.100850136  DT.99957007 
    DT.95087424  DT.95240498  DT.40291535  DT.100850141  DT.120833793  DT.100041161  DT.95361681  DT.91782123 
    DT.120833832  DT.95201006  DT.95242871  DT.120833665  DT.40116625  DT.95242866  DT.100850133  DT.120833764 

    24/454 AceView cDNA sequences (see all 454):

    AY189741 H01915 BQ646427 BG681089 AL600928 AI272301 BM453656 AI160041 
    AI866558 AL045308 BM978484 AI371459 AL047581 BU685934 BF431492 BM749380 
    AA563749 BM675238 BV178135 CB127850 BQ940454 BV178679 BC013579 AW103819 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    CAST expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See CAST Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAST

    SOURCE GeneReport for Unigene cluster: Hs.436186
        SABiosciences Expression via Pathway-Focused PCR Arrays including CAST: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CAST
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAST
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAST

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CAST gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cast1 , 5 calpastatin1, 5 78.79(n)1
    70.63(a)1
      13 (40.52 cM)5
    123801  NM_009817.31  NP_033947.11 
     746942865 
    chicken
    (Gallus gallus)
    Aves CAST1 calpastatin 60.01(n)
    47.68(a)
      427121  NM_001137650.1  NP_001131122.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAST6
    calpastatin
    42(a)
    1 ↔ 1
    2(26404018-26485096)
    African clawed frog
    (Xenopus laevis)
    Amphibia calp32 calpastatin 76.26(n)    AJ249276.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cast1 calpastatin 46.22(n)
    33.88(a)
      563084  NM_001130591.2  NP_001124063.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2475 SNPs in CAST are shown (see all 2475)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0052984
    ----see VAR_0052982 E G mis40--------
    rs2009530561,2
    --91188056(+) CACAC-/ACAG  
            
    AGACC
    2 -- us2k10--------
    rs718188431,2
    C--91188058(+) ACACA-/AC/CA 
    /CAGA/GA
    GACCA
    2 -- us2k11CSA 2
    rs30487771,2
    C--91190123(-) TTTTT-/TTTT  
            
    GGAAA
    2 -- int10--------
    rs105346551,2
    C--91194338(+) GCGTG-/CACACAC 2 -- int10--------
    rs340799861,2
    C--91194997(+) CAGGT-/AAAAAA 2 -- int10--------
    rs1997792251,2
    C--91195008(+) AAAAAA/GGGCTG 2 -- int10--------
    rs354279641,2
    C--91198894(+) GTCTC-/A/AA  
            
    AAAAA
    2 -- int10--------
    rs114272881,2
    C--91198917(+) AAAAA-/A/GGAACT 2 -- int1 trp31NA 2
    rs347617611,2
    C--91208147(+) ATTTT-/GAGAGAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for CAST (95860971 - 96110971 bp, first 250kb of CAST)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CAST:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv819693CNV Loss19587683
    nsv830411CNV Loss17160897
    nsv436983CNV Loss16327808
    nsv509982CNV Loss20534489
    nsv516293CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): CAST
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CAST
    DNA2.0 Custom Variant and Variant Library Synthesis for CAST

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 114090    OMIM disorders: --

    20/39 diseases for CAST (see all 39):    About MalaCards
    rheumatic disease    scrapie    connective tissue disease    toxic encephalopathy
    uremia    sjogren's syndrome    essential hypertension    thrombosis
    vasculitis    traumatic brain injury    osteoarthritis    parkinson's disease
    alcohol dependence    hypertension    rheumatoid arthritis    muscular dystrophy
    arthritis    brain injury    lupus erythematosus    vascular disease

    2 diseases from the University of Copenhagen DISEASES database for CAST:
    Vascular disease     Alzheimer's disease

    CAST for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/24 Novoseek inferred disease relationships for CAST gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 39 1 2279616 (1)
    muscle necrosis 34.4 1 12958164 (1)
    rheumatoid arthritis 33.9 10 9256029 (3), 9851263 (2), 11600742 (2), 14705213 (1) (see all 6)
    alzheimers disease 31.3 11 2072120 (3), 11849768 (2), 8737608 (1), 19020018 (1) (see all 5)
    pathological processes 31.2 1 18572013 (1)
    connective tissue diseases 29.2 2 12367559 (1), 11600742 (1)
    neurodegeneration 26.2 5 19020018 (2), 2072120 (1)
    rheumatic diseases 25.1 6 9793376 (2), 12367559 (1), 7638179 (1), 7706496 (1)
    sjogrens syndrome 13.5 1 12367559 (1)
    arthritis 8.2 4 8697585 (1), 11600742 (1), 12510348 (1)

    Genetic Association Database (GAD): CAST
    Human Genome Epidemiology (HuGE) Navigator: CAST (35 documents)

    Export disorders for CAST 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)
    About This Section

    PubMed articles for CAST gene, integrated from 9 sources (see all 285):
    (articles sorted by number of sources associating them with CAST)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphorylation and subcellular distribution of calpastatin in human hematopoietic system cells. (PubMed id 1995645)1, 2, 9 Adachi Y....Hatanaka M. (1991)
    2. Calpastatin gene in human testis. (PubMed id 7951045)1, 2, 9 Wang L.F.... Koide S.S. (1994)
    3. Mutation analysis of the calpastatin gene (CAST) in patients with Alzheimer's disease. (PubMed id 11849768)1, 4, 9 Nakayama J....Arinami T. (2002)
    4. Requirement of different subdomains of calpastatin for calpain inhibition and for binding to calmodulin-like domains. (PubMed id 8340353)1, 3, 9 Ma H....Maki M. (1993)
    5. SNPs in CAST are associated with Parkinson disease: a confirmation study. (PubMed id 20127884)1, 4, 9 Allen A.S. and Satten G.A. (2010)
    6. Changes in calpastatin localization and expression du ring calpain activation: a new mechanism for the regulation of intracellular Ca (2+)-dependent proteolysis. (PubMed id 14685690)1, 3, 9 Averna M....Melloni E. (2003)
    7. Detection and expression of a cDNA clone that encodes a polypeptide containing two inhibitory domains of human calpastatin and its recognition by rheumatoid arthritis sera. (PubMed id 7706496)1, 2, 9 Despres N.... Menard H.A. (1995)
    8. A novel haplotype-sharing approach for genome-wide case-control association studies implicates the calpastatin gene in Parkinson's disease. (PubMed id 19365859)1, 4, 9 Allen A.S. and Satten G.A. (2009)
    9. Sex differences in environmental and genetic factors for hypertension. (PubMed id 18724972)1, 4, 9 Ruixing Y....Yuming C. (2008)
    10. Four promoters direct expression of the calpastatin g ene. (PubMed id 15820218)1, 3, 9 Raynaud P....Amarger V. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 831 HGNC: 1515 AceView: CAST Ensembl:ENSG00000153113 euGenes: HUgn831
    ECgene: CAST H-InvDB: CAST

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CAST Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CAST Genetics and Cytogenetics in Oncology and Haematology

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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