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

CAST Gene

protein-coding   GIFtS: 63
GCID: GC05P095865

calpastatin

 Explore 40 diseases affiliated with
CAST via our new
 Human Malady Compendium 
Biological research products
for CAST
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Calpastatin1
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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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:
95,865,525 bp from pter      End:
96,115,299 bp from pter
Size:
249,775 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 O95360 Q05DE8 Q7Z4K0 Q96D08 Q9H1Z5
Alternative splicing: 8 isoforms:  P20810-1   P20810-2   P20810-3   P20810-4   P20810-5   P20810-6   P20810-7   P20810-8   
(No experimental confirmation available)

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

Post-translational modifications:

  • The N-terminus is blocked1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20810

  • CAST Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035905.1  NP_001177371.1  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: 
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    OriGene Purified Proteins (see all 2): CAST
    OriGene Protein Over-expression Lysate (see all 4): CAST
    OriGene Custom Protein Services for CAST 
    GenScript Custom Purified and Recombinant Proteins Services for CAST
    Novus Biologicals CAST Proteins
    Novus Biologicals CAST Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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:0005624membrane fraction ----


    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)
    OriGene Antibodies: CAST
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    Novus Biologicals CAST Antibodies
    Search for Antibodies for CAST at Abcam  
    Uscn Antibodies for CAST
    ThermoFisher Antibody for CAST

    Assay Products for CAST: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CAST
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CAST


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CAST for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001259 Prot_inh_calpain
     IPR026998 Calpastatin

    Graphical View of Domain Structure for InterPro Entry P20810

    ProtoNet protein and cluster: P20810

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

    miRNA
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    OriGene 3'-UTR Clone (see all 11): CAST
    Browse MicroRNA Expression Plasmids
    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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAST (see all 6)
    OriGene shRNA RFP: CAST
    OriGene siRNA: CAST
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAST

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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): CAST (NM_173060)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAST 

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    Search LifeMap BioReagents cell lines for CAST

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAST

    Gene Ontology (GO): 4 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
    GO:0010859calcium-dependent cysteine-type endopeptidase inhibitor activity ----


    CAST for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Casttm1Tcs for CAST
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cast):
     cardiovascular system  cellular  homeostasis/metabolism  mortality/aging  nervous system 

    CAST for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neuroscience
    Neuroscience1.00
    2DREAM Repression and Dynorphin Expression
    Calpain Protease Regulates Cellular Mechanics0.22

    Pathway sources
    See GeneCards unified pathways
    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-3448658 I2D: score=1 STRING: ENSP00000288986
    CAPN1P073843, ENSP000002792474I2D: score=2 STRING: ENSP00000279247
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010951negative regulation of endopeptidase activity TAS7638179


    CAST for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CAST gene (13 alternative transcripts): 
    NM_001042440.2  NM_001190442.1  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
    18/44 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 44):
    ENST00000505143 ENST00000338252 ENST00000508830 ENST00000511097(uc021ybr.1)
    ENST00000395812(uc003klx.3) ENST00000515160 ENST00000507487 ENST00000421689
    ENST00000510756 ENST00000507836 ENST00000512620 ENST00000514845 ENST00000510245
    ENST00000506811 ENST00000514055 ENST00000508608 ENST00000341926 ENST00000505402


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAST (see all 6)
    OriGene shRNA RFP: CAST
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAST
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAST

    Additional cDNA 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):

    CF529541 BU675457 BM927815 AL047581 C00310 AI272301 AI040170 BU688633 
    BF589311 U38525 AA742216 AL522227 AI866558 BQ720231 BI828654 AA563749 
    AY189741 BU620336 BM749380 BU685934 CB127850 BQ646427 NM_173060 BG235991 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTCATTAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CAST expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    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
    --
    45(a)
    1 ↔ 1
    2(26451329-26485096)
    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, UniProtKB, 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

    10/2132 NCBI SNPs in CAST are shown (see all 2132    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs761488531,2
    C,F,--91186526(+) TTTCAA/GTATCC 2 -- us2k11Minor allele frequency- G:0.06WA 118
    rs765902691,2
    C,F,--91186889(+) TCACCC/TCTACA 2 -- us2k11Minor allele frequency- T:0.05NA 120
    rs131882191,2
    C--91187407(+) CCAGTC/TTGACC 2 -- us2k12Minor allele frequency- T:0.25NA 4
    rs117445571,2
    C,F,A,H--91187695(+) TCCCAG/AAATGA 2 -- us2k13Minor allele frequency- A:0.01NS NA 354
    rs559599161,2
    C,--91187795(+) ACGTAG/AGGCTT 2 -- us2k12Minor allele frequency- A:0.14WA 120
    rs2010411611,2
    C--91188045(+) CGCACA/GCACAC 2 -- us2k10--------
    rs802474831,2
    F,--91188181(+) CCGGAT/GTGTTG 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs14570841,2
    C,F,--91188846(-) CCTGCA/TGCCAC 2 -- int12Minor allele frequency- T:0.12WA EA 238
    rs1116200241,2
    C,F,--91188870(+) CCGGCC/TGGGTC 2 -- int11Minor allele frequency- T:0.05NA 120
    rs737743571,2
    C,--91188951(+) GACGTG/AGGTGA 2 -- int12Minor allele frequency- A:0.14WA 120

    HapMap Linkage Disequilibrium report for CAST (95865525 - 96115299 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CAST
         1 Indel: 59279
    Human Gene Mutation Database (HGMD): CAST

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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.)
    About This Section

    CAST for disorders           About GeneDecksing

    OMIM gene information: 114090    OMIM disorders: --

    20/40 diseases for CAST (see all 40):    About MalaCards
    connective tissue disease    lupus erythematosus    muscular dystrophy    toxic encephalopathy
    essential hypertension    atrial fibrillation    systemic lupus erythematosus    sjogren's syndrome
    alcohol dependence    rheumatoid arthritis    acute lymphoblastic leukemia    neurodegenerative disease
    lymphoblastic leukemia    scrapie    parkinson's disease    cystic fibrosis
    thrombosis    alzheimer's disease    uremia    neurodegeneration

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

    10/24 Novoseek 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 274):
    (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. 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)
    6. 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)
    7. Four promoters direct expression of the calpastatin g ene. (PubMed id 15820218)1, 3, 9 Raynaud P....Amarger V. (2005)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Cloning and characterization of a novel isoform of calpastatin in human adult testis. (PubMed id 11978196)1, 2 Zhu H.... Sha J.H. (2002)

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

      Query String
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      (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



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