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CASC3 Gene

protein-coding   GIFtS: 51
GCID: GC17P038296

Cancer Susceptibility Candidate 3

  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)
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Aliases
Cancer Susceptibility Candidate 31 2     BTZ2
MLN512 3 5     barentsz2
Cancer Susceptibility Candidate Gene 3 Protein2 3     Metastatic Lymph Node 512
Metastatic Lymph Node Gene 51 Protein2 3     Protein CASC32
Protein Barentsz2 3     Btz3
MLN 512 3     

External Ids:    HGNC: 170401   Entrez Gene: 227942   Ensembl: ENSG000001083497   OMIM: 6065045   UniProtKB: O152343   

Export aliases for CASC3 gene to outside databases

Previous GC identifers: GC00U914332 GC17P038651 GC17P035550 GC17P034089


(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 CASC3 Gene:
The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is
deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The
encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the
cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. (provided by RefSeq, Jul 2008)

GeneCards Summary for CASC3 Gene:
CASC3 (cancer susceptibility candidate 3) is a protein-coding gene. Diseases associated with CASC3 include rheumatoid arthritis, and arthritis. GO annotations related to this gene include RNA binding and enzyme binding.

UniProtKB/Swiss-Prot: CASC3_HUMAN, O15234
Function: Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice
junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and
cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene
expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA
metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization,
translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities
of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by
favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in
hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24
nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer

Gene Wiki entry for CASC3 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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Regulatory elements:
   Regulatory transcription factor binding sites in the CASC3 gene promoter:
         Pax-2   Olf-1   Lmo2   Pax-2a   POU6F1 (c2)   C/EBPalpha   GATA-1   GATA-2   HNF-4alpha1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CASC3 promoter sequence
   Search Chromatin IP Primers for CASC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASC3


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

Entrez Gene cytogenetic band: 17q21.1   Ensembl cytogenetic band:  17q21.1   HGNC cytogenetic band: 17q21.1

CASC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASC3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P038296:  view genomic region     (about GC identifiers)

Start:
38,296,507 bp from pter      End:
38,328,436 bp from pter
Size:
31,930 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CASC3_HUMAN, O15234 (See protein sequence)
Recommended Name: Protein CASC3  
Size: 703 amino acids; 76278 Da
Subunit: Part of the mRNA splicing-dependent exon junction complex (EJC) complex; the core complex contains CASC3,
EIF4A3, MAGOH and RBM8A. Forms homooligomers. Interacts with STAU in an RNA-dependent manner. Interacts with
EIF4A3, MAGOH, NXF1 and RBM8A
6 PDB 3D structures from and Proteopedia for CASC3:
2HYI (3D)        2J0Q (3D)        2J0S (3D)        2J0U (3D)        2XB2 (3D)        3EX7 (3D)    
Secondary accessions: A8K8R0

Explore the universe of human proteins at neXtProt for CASC3: NX_O15234

Explore proteomics data for CASC3 at MOPED

Post-translational modifications: 

  • ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by
    ubiquitination1
  • Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation1
  • Ubiquitination2 at Lys177, Lys205
  • Modification sites at PhosphoSitePlus

  • See CASC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_031385.2  
    ENSEMBL proteins: 
     ENSP00000264645   ENSP00000467654   ENSP00000462713   ENSP00000464626  
    Reactome Protein details: O15234

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    CASC3 Assay Products:

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    Cloud-Clone Corp. ELISAs for CASC3
    Cloud-Clone Corp. CLIAs for CASC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR018545 Btz_dom
     IPR028544 CASC3

    Graphical View of Domain Structure for InterPro Entry O15234

    ProtoNet protein and cluster: O15234

    UniProtKB/Swiss-Prot: CASC3_HUMAN, O15234
    Domain: The coiled coil domain may be involved in oligomerization
    Similarity: Belongs to the CASC3 family


    CASC3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASC3_HUMAN, O15234
    Function: Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice
    junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and
    cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
    subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene
    expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA
    metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization,
    translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities
    of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by
    favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in
    hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24
    nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI14973490
    GO:0019899enzyme binding IPI--
    GO:0031625ubiquitin protein ligase binding IPI--
    GO:0042802identical protein binding IDA12080473
         
    CASC3 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Casc3 (no phenotypes)

    CASC3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASC3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASC3

    miRNA
    Products:
        
    miRTarBase miRNAs that target CASC3:
    hsa-mir-128-3p (MIRT021901), hsa-mir-222-3p (MIRT046633), hsa-mir-378a-3p (MIRT043879), hsa-mir-877-5p (MIRT037301), hsa-mir-182-5p (MIRT047186), hsa-mir-125b-5p (MIRT004991), hsa-mir-193b-3p (MIRT041327), hsa-mir-484 (MIRT041656)

    Block miRNA regulation of human, mouse, rat CASC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CASC3 (see all 41):
    hsa-miR-549 hsa-miR-323-3p hsa-miR-128 hsa-miR-4314 hsa-miR-3142 hsa-miR-124 hsa-miR-3150b-3p hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidCASC3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat CASC3

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CASC3 (NM_007359)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASC3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CASC3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASC3


    (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
    CASC3_HUMAN, O15234: Cytoplasm, perinuclear region. Nucleus. Nucleus speckle. Note=Predominantly found in the
    perinuclear region (By similarity). Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner.
    Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Shuttles between the cytoplasm
    and the stress granules. More specifically found in nuclear intrachromatin granules clusters (IGC), also called
    nuclear speckles, which are storage compartments for nuclear proteins involved in mRNA processing. Colocalizes in
    nuclear speckles with MAGOH. Under stress condition, colocalizes with FMR1 and TIA1, but not MAGOH and RBM8A EJC
    core factors, in cytoplasmic stress granules, which contain stored mRNAs whose translation is stopped in response
    to stress
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0016607nuclear speck IEA--
    GO:0030529ribonucleoprotein complex IEA--

    CASC3 for ontologies           About GeneDecksing


    (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 CASC3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Influenza Viral RNA Transcription and Replication
    Nonsense-Mediated Decay0.89
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    2Gene Expression
    Gene Expression0.40
    3RNA transport
    RNA transport
    4mRNA surveillance pathway
    mRNA surveillance pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for CASC3
        Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)


    2 Kegg Pathways  (Kegg details for CASC3):
        RNA transport
    mRNA surveillance pathway


    CASC3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CASC3
    Interactions:

        GeneGlobe Interaction Network for CASC3

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

    Selected Interacting proteins for CASC3 (O152341, 3 ENSP000002646454) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGOHP613261, 3, ENSP000003605254EBI-299118,EBI-299134 I2D: score=1 STRING: ENSP00000360525
    EIF4A3P389191, 3, ENSP000002693494EBI-299118,EBI-299104 I2D: score=3 STRING: ENSP00000269349
    RBM8AQ9Y5S93, ENSP000003330014I2D: score=1 STRING: ENSP00000333001
    STAU1O957933, ENSP000003609224I2D: score=3 STRING: ENSP00000360922
    SEPT4O432363I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006397mRNA processing IEA--
    GO:0006417regulation of translation IEA--
    GO:0006950response to stress IEA--
    GO:0008150biological_process ND--

    CASC3 for ontologies           About GeneDecksing



    (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 

    Browse Tocris compounds for CASC3



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CASC3 gene: 
    NM_007359.4  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418132(uc010cws.1) ENST00000264645(uc010cwt.1 uc002hue.3)
    ENST00000581849 ENST00000583649 ENST00000584997 ENST00000474190 ENST00000577605
    ENST00000579238 ENST00000583902 ENST00000394114
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CASC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CASC3 (see all 41):
    hsa-miR-549 hsa-miR-323-3p hsa-miR-128 hsa-miR-4314 hsa-miR-3142 hsa-miR-124 hsa-miR-3150b-3p hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidCASC3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CASC3
    Predesigned siRNA for gene silencing in human, mouse, rat CASC3
    Clone
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    OriGene clones in human, mouse for CASC3 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CASC3 (NM_007359)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASC3
    Primer
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    OriGene qPCR primer pairs and template standards for CASC3
    OriGene qSTAR qPCR primer pairs in human, mouse for CASC3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASC3
      QuantiTect SYBR Green Assays in human, mouse, rat CASC3
      QuantiFast Probe-based Assays in human, mouse, rat CASC3

    Selected AceView cDNA sequences (see all 442):

    BE350517 BM697021 BM556902 BG566470 BI258764 AI754680 AI630587 BP357598 
    AU128000 BE221556 AI078832 AI609588 AI434502 CF619069 BQ549662 AI499052 
    AI743300 BF940913 BQ958833 BM479192 BU737993 BC050526 BM831432 BU543045 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CASC3 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a ·
    SP1:        -                                                                       -     -                                         -                           
    SP2:                                                                                -     -                                         -                           
    SP3:                                                                                                                                                            
    SP4:                                                                          -     -     -     -                                                               
    SP5:                                                                                                                                                            

    ExUns: 13b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CASC3

    (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)
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    CASC3 expression in normal human tissues (normalized intensities)      CASC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGGTGGTG
    CASC3 Expression
    About this image


    CASC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
     
     Uterus (Reproductive System)
    CASC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASC3 Protein Expression

    UniProtKB/Swiss-Prot: CASC3_HUMAN, O15234
    Tissue specificity: Widely expressed. Overexpressed in breast cancers and metastasis, as well as in gastric
    cancers

        Custom PCR Arrays for CASC3
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CASC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASC3

    (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 animals.

    Orthologs for CASC3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casc31 , 5 cancer susceptibility candidate 31, 5 87.06(n)1
    89.83(a)1
      11 (62.68 cM)5
    1921601  NM_138660.21  NP_619601.21 
     988049055 
    chicken
    (Gallus gallus)
    Aves CASC31 cancer susceptibility candidate 3 71.29(n)
    76.18(a)
      426135  XM_423806.4  XP_423806.4 
    lizard
    (Anolis carolinensis)
    Reptilia CASC36
    cancer susceptibility candidate 3
    66(a)
    1 ↔ 1
    6(69422393-69441600)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia casc31 cancer susceptibility candidate 3 63.29(n)
    62.67(a)
      503560  NM_001012652.1  NP_001012670.1 
    zebrafish
    (Danio rerio)
    Actinopterygii casc36
    cancer susceptibility candidate 3
    47(a)
    1 ↔ 1
    3(23720194-23753195) ENSDARG00000029911
    fruit fly
    (Drosophila melanogaster)
    Insecta btz6
    barentsz
    20(a)
    1 ↔ 1
    3R(23526083-23529167)
    worm
    (Caenorhabditis elegans)
    Secernentea W08E3.26
    Protein W08E3.2 (W08E3.2) mRNA, complete cds
    23(a)
    1 ↔ 1
    I(13333356-13336143) WBGene00012343


    ENSEMBL Gene Tree for CASC3 (if available)
    TreeFam Gene Tree for CASC3 (if available)

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

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    (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 CASC3 (see all 678)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139825791,2
    C,F--34087852(+) CCACTG/CCACTC 1 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs1117928301,2
    C--34087910(+) AAAAAC/TTGGAC 1 -- us2k12Minor allele frequency- T:0.21CSA WA 119
    rs1858146921,2
    --38294520(+) CTAAAC/TAACTG 1 -- us2k10--------
    rs1897397631,2
    --38294701(+) GACTTA/TTAAGT 1 -- us2k10--------
    rs1810261571,2
    --38294789(+) TTTGTC/TTCCCA 1 -- us2k10--------
    rs1856500051,2
    --38294810(+) CAGTGG/TCGCGA 1 -- us2k10--------
    rs1904534711,2
    --38294844(+) CTACCA/GGGTTC 1 -- us2k10--------
    rs1143281201,2
    F--38295106(+) ATCTAT/AAAATT 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs769625251,2
    C,F--38295111(+) TAAATT/CTGATA 1 -- us2k12Minor allele frequency- C:0.06WA 120
    rs1835853411,2
    --38295223(+) ACGGCA/GGATCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CASC3 (38296507 - 38328436 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CASC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675692CNV Deletion23128226
    nsv833444CNV Loss17160897
    nsv525796CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CASC3
    DNA2.0 Custom Variant and Variant Library Synthesis for CASC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606504    OMIM disorders: --

    5 diseases for CASC3:    About MalaCards
    rheumatoid arthritis    arthritis    breast cancer    malaria
    neuronitis


    CASC3 for disorders           About GeneDecksing


    Export disorders for CASC3 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 CASC3 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with CASC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. (PubMed id 7490069)1, 2, 3 Tomasetto C.L.... Rio M.-C. (Genomics 1995)
    2. Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module. (PubMed id 15166247)1, 2, 9 Degot S.... Tomasetto C. (J. Biol. Chem. 2004)
    3. The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly. (PubMed id 17652158)1, 2, 9 Baguet A.... Tomasetto C. (J. Cell Sci. 2007)
    4. The crystal structure of the exon junction complex reveals how it maintains a stable grip on mRNA. (PubMed id 16923391)1, 2, 9 Bono F.... Conti E. (Cell 2006)
    5. Genomic analysis of the HER2/TOP2A amplicon in breast cancer and breast cancer cell lines. (PubMed id 18332872)1, 3 Arriola E....Reis-Filho J.S. ( a journal of technical methods and pathology 2008)
    6. Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA. (PubMed id 16931718)1, 2 Andersen C.B.... Andersen G.R. (Science 2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. (PubMed id 16314458)1, 2 Tange T.O.... Moore M.J. (RNA 2005)
    9. The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity. (PubMed id 16170325)1, 2 Ballut L....Le Hir H. (Nat. Struct. Mol. Biol. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 22794 HGNC: 17040 AceView: CASC3 Ensembl:ENSG00000108349 euGenes: HUgn22794
    ECgene: CASC3 Kegg: 22794 H-InvDB: CASC3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CASC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASC3 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

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    Patent Information for CASC3 gene:
    Search GeneIP for patents involving CASC3

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



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