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

CASC3 Gene

protein-coding   GIFtS: 53
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)
About This Section

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

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 gastric cancer, and rheumatoid arthritis, and among its related super-pathways are Metabolism of RNA and Nonsense Mediated Decay Independent of the Exon Junction Complex. GO annotations related to this gene include RNA binding and enzyme binding.

UniProtKB/Swiss-Prot: CASC3_HUMAN, O15234
Function: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction
on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear
and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages
of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby
influences downstream processes of gene expression including mRNA splicing, 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 (By similarity). May play a role in mRNA transport (By similarity). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CASC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: CASC3_HUMAN, O15234 (See protein sequence)
Recommended Name: Protein CASC3  
Size: 703 amino acids; 76278 Da
Subunit: Forms homooligomers (By similarity). Interacts with STAU in an RNA-dependent manner (By similarity). Part
of the EJC core complex that contains CASC3, EIF4A3, MAGOH and RBM8A. Found in a mRNA splicing-dependent exon
junction complex (EJC), at least composed of ACIN1, CASC3, EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and
ALYREF/THOC4. Interacts with EIF4A3, MAGOH, NXF1 and RBM8A
Subcellular location: 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
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:

  • UniProtKB: ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by
    ubiquitination
  • UniProtKB: Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15234

  • CASC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CASC3 Protein Expression
    REFSEQ proteins: NP_031385.2  
    ENSEMBL proteins: 
     ENSP00000264645   ENSP00000467654   ENSP00000462713   ENSP00000464626  
    Reactome Protein details: O15234
    Human Recombinant Protein Products for CASC3: 
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    Cloud-Clone Corp. Proteins for CASC3 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0016607nuclear speck IEA--

    CASC3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR018545 Btz_dom

    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,
    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: CASC3_HUMAN, O15234
    Function: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction
    on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear
    and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
    subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages
    of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby
    influences downstream processes of gene expression including mRNA splicing, 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 (By similarity). May play a role in mRNA transport (By similarity). 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): 5 molecular function terms (GO ID links to tree view):    About this table

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


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    miRNA
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    hsa-mir-125b (MIRT004991)

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    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
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    (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 CASC3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of mRNA
    Metabolism of RNA0.92
    Metabolism of mRNA0.92
    2Viral mRNA Translation
    Nonsense-Mediated Decay0.84
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.84
    3Generic Transcription Pathway
    Gene Expression0.47
    4mRNA surveillance pathway
    mRNA surveillance pathway
    5RNA transport
    RNA transport

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for CASC3
        Nonsense-Mediated Decay
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex
    Metabolism of RNA
    Metabolism of mRNA
    Gene Expression


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


    CASC3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASC3

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

    5/82 Interacting proteins for CASC3 (O152341, 3 ENSP000002646454) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    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): 5/11 biological process terms (GO ID links to tree view) (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 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CASC3

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
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    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 CASC3 gene: 
    NM_007359.4  

    Unigene Cluster for CASC3:

    Cancer susceptibility candidate 3
    Hs.743287  [show with all ESTs]
    Unigene Representative Sequence: NM_007359
    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
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    SwitchGear 3'UTR luciferase reporter plasmidCASC3 3' UTR sequence
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    Additional mRNA sequence: 

    AK292425.1 AK296682.1 AK310635.1 BC030008.1 BC044656.1 BC050526.1 X80199.2 

    13 DOTS entries:

    DT.100790275  DT.92459270  DT.100790269  DT.100790273  DT.100790277  DT.99933836  DT.95227579  DT.120908638 
    DT.100743421  DT.102828187  DT.120908649  DT.120908659  DT.91953170 

    24/442 AceView cDNA sequences (see all 442):

    BQ949014 AI336160 BU508185 BM668052 BU845564 CA435912 Z42160 BF439047 
    Z39589 BU167742 AI088926 BQ058370 BU838570 AI434502 BC044656 BM479192 
    BM456646 AI952617 AA648880 BG566470 AI630587 BQ020980 AI743300 BM505130 

    GeneLoc Exon Structure

    5/9 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™, 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

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


    See CASC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASC3

    SOURCE GeneReport for Unigene cluster: Hs.743287

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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CASC3 gene from 6/14 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 87.82(n)1
    90.97(a)1
      11 (62.68 cM)5
    1921601  NM_138660.21  NP_619601.21 
     988049055 
    chicken
    (Gallus gallus)
    Aves CASC31 cancer susceptibility candidate 3 71.62(n)
    77.65(a)
      426135  XM_423806.3  XP_423806.3 
    lizard
    (Anolis carolinensis)
    Reptilia CASC36
    cancer susceptibility candidate 3
    69(a)
    1 ↔ 1
    6(69422393-69441600)
    zebrafish
    (Danio rerio)
    Actinopterygii casc31 cancer susceptibility candidate 3 60.45(n)
    58.4(a)
      403025  NM_205716.1  NP_991279.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta btz1 barentsz 38.97(n)
    30.96(a)
      43331  NM_079810.4  NP_524534.1 
    worm
    (Caenorhabditis elegans)
    Secernentea W08E3.26
    Protein W08E3.2
    23(a)
    1 ↔ 1
    I(13333356-13336143)


    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
      --

    (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

    10/678 SNPs in CASC3 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    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.)
    About This Section
    OMIM gene information: 606504    OMIM disorders: --

    5 diseases for CASC3:    About MalaCards
    gastric cancer    rheumatoid arthritis    arthritis    breast cancer
    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)
    About This Section

    PubMed articles for CASC3 gene, integrated from 9 sources (see all 43):
    (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. (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. (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. (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. (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. (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. (2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. (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. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 22794 HGNC: 17040 AceView: CASC3 Ensembl:ENSG00000108349 euGenes: HUgn22794
    ECgene: CASC3 Kegg: 22794 H-InvDB: CASC3

    (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 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
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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