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CASC3 Gene(Protein Coding)

Cancer Susceptibility 3

GCID:
GC17P040140
GIFtS:
49
Genes Participants
UDN Logo

Aliases for CASC3 Gene

Aliases for CASC3 Gene

  • Cancer Susceptibility 3 2 3 5
  • Cancer Susceptibility Candidate Gene 3 Protein 3 4
  • Metastatic Lymph Node Gene 51 Protein 3 4
  • Cancer Susceptibility Candidate 3 2 3
  • Protein Barentsz 3 4
  • MLN 51 3 4
  • MLN51 3 4
  • BTZ 3 4
  • Metastatic Lymph Node 51 3
  • Protein CASC3 3
  • Barentsz 3

External Ids for CASC3 Gene

Previous GeneCards Identifiers for CASC3 Gene

  • GC00U914332
  • GC17P038651
  • GC17P035550
  • GC17P038296
  • GC17P034089

Summaries for CASC3 Gene

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 3) is a Protein Coding gene. Among its related pathways are Gene Expression and Viral mRNA Translation. GO annotations related to this gene include poly(A) RNA binding and enzyme binding.

UniProtKB/Swiss-Prot for CASC3 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASC3 Gene

Genomics for CASC3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CASC3 Gene

Enhancers for CASC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G040102 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -30.8 -30788 13.3 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MSL1 ENSG00000266469 MED1 CDK12 CASC3 THRA MED24 CDC6 ENSG00000266208 RARA
GH17G040191 1.3 ENCODE dbSUPER 11.2 +51.6 51550 1.2 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 SLC30A9 GLIS2 ZNF143 MSL1 WIPF2 CDC6 CASC3 THRA RARA MIR6867 RAPGEFL1
GH17G040167 1.1 ENCODE dbSUPER 13.2 +28.2 28196 1.2 ELF3 HDGF PKNOX1 ARID4B SIN3A DNMT3B RAD21 RFX5 SLC30A9 SCRT2 CASC3 MSL1 MED24 RARA ENSG00000266208 TCAP PIR47710 MIR6866
GH17G040175 1.2 ENCODE dbSUPER 12.1 +36.6 36636 2.4 HDGF CBX3 ARNT RB1 AGO1 KLF17 ZNF2 RAD21 ZEB1 GLIS2 CASC3 MSL1 CDC6 ENSG00000266208 RAPGEFL1 PIR47710
GH17G040201 1.1 Ensembl ENCODE 11.4 +61.7 61747 0.4 ARNT ARID4B ZNF2 ZNF48 ZSCAN9 RAD21 RFX5 ZNF121 ZNF143 ZNF391 CDC6 RAPGEFL1 CASC3 MSL1 MED24 TOP2A MIR6867 WIPF2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASC3 on UCSC Golden Path with GeneCards custom track

Promoters for CASC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094037 146 1601 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 ZNF416 ZNF143 ZNF548

Transcription factor binding sites by QIAGEN in the CASC3 gene promoter:

Genomic Location for CASC3 Gene

Chromosome:
17
Start:
40,140,254 bp from pter
End:
40,172,183 bp from pter
Size:
31,930 bases
Orientation:
Plus strand

Genomic View for CASC3 Gene

Genes around CASC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASC3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CASC3 Gene

Proteins for CASC3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CASC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15234-CASC3_HUMAN
    Recommended name:
    Protein CASC3
    Protein Accession:
    O15234
    Secondary Accessions:
    • A8K8R0

    Protein attributes for CASC3 Gene

    Size:
    703 amino acids
    Molecular mass:
    76278 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CASC3 Gene

neXtProt entry for CASC3 Gene

Protein Expression for CASC3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CASC3 Gene

  • ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.
  • Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation.
  • Ubiquitination at Lys177 and posLast=205205
  • Modification sites at PhosphoSitePlus

Other Protein References for CASC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CASC3 Gene

Domains & Families for CASC3 Gene

Gene Families for CASC3 Gene

HGNC:

Protein Domains for CASC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15234

UniProtKB/Swiss-Prot:

CASC3_HUMAN :
  • The coiled coil domain may be involved in oligomerization.
  • Belongs to the CASC3 family.
Domain:
  • The coiled coil domain may be involved in oligomerization.
Family:
  • Belongs to the CASC3 family.
genes like me logo Genes that share domains with CASC3: view

Function for CASC3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CASC3 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for CASC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 22658674
GO:0005515 protein binding IPI 14973490
GO:0019899 enzyme binding IPI 21478859
GO:0031625 ubiquitin protein ligase binding IPI 21478859
GO:0042802 identical protein binding IDA 12080473
genes like me logo Genes that share ontologies with CASC3: view
genes like me logo Genes that share phenotypes with CASC3: view

Animal Models for CASC3 Gene

MGI Knock Outs for CASC3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASC3 Gene

Localization for CASC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASC3 Gene

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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASC3 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CASC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with CASC3: view

Pathways & Interactions for CASC3 Gene

genes like me logo Genes that share pathways with CASC3: view

Gene Ontology (GO) - Biological Process for CASC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
genes like me logo Genes that share ontologies with CASC3: view

No data available for SIGNOR curated interactions for CASC3 Gene

Drugs & Compounds for CASC3 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CASC3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CASC3 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(442) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASC3 Gene

Cancer susceptibility candidate 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASC3 Gene

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:
SP6: -
SP7:
SP8:
SP9: -

ExUns: 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CASC3 Gene

GeneLoc Exon Structure for
CASC3
ECgene alternative splicing isoforms for
CASC3

Expression for CASC3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASC3 Gene

mRNA expression in normal human tissues for CASC3 Gene
mRNA expression by BioGPS for CASC3 GenemRNA expression by GTEx for CASC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CASC3 Gene

This gene is overexpressed in Adipocyte (22.1), Esophagus (15.0), Lung (9.4), and Heart (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CASC3 Gene



NURSA nuclear receptor signaling pathways regulating expression of CASC3 Gene:

CASC3

SOURCE GeneReport for Unigene cluster for CASC3 Gene:

Hs.743287

mRNA Expression by UniProt/SwissProt for CASC3 Gene:

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

Evidence on tissue expression from TISSUES for CASC3 Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Skin(4.3)
  • Liver(4.2)
  • Blood(2.1)
  • Bone marrow(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with CASC3: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASC3 Gene

Orthologs for CASC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CASC3 34 35
  • 99.27 (n)
dog
(Canis familiaris)
 Mammalia CASC3 34 35
  • 93.22 (n)
cow
(Bos Taurus)
 Mammalia CASC3 34 35
  • 92.03 (n)
rat
(Rattus norvegicus)
 Mammalia Casc3 34
  • 87.94 (n)
mouse
(Mus musculus)
 Mammalia Casc3 34 16 35
  • 87.06 (n)
oppossum
(Monodelphis domestica)
 Mammalia CASC3 35
  • 75 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CASC3 35
  • 58 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CASC3 34
  • 71.29 (n)
lizard
(Anolis carolinensis)
 Reptilia CASC3 35
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia casc3 34
  • 63.29 (n)
zebrafish
(Danio rerio)
 Actinopterygii casc3 35
  • 47 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta btz 35
  • 20 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea W08E3.2 35
  • 23 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 36 (a)
 OneToOne
Species where no ortholog for CASC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CASC3 Gene

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

Paralogs for CASC3 Gene

No data available for Paralogs for CASC3 Gene

Variants for CASC3 Gene

Sequence variations from dbSNP and Humsavar for CASC3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000068613 -- 40,160,514(+) AAGAT(A/G)ATTCA intron-variant, upstream-variant-2KB
rs1000085802 -- 40,155,908(+) TAATT(C/T)GGAGC intron-variant
rs1000230553 -- 40,168,956(+) GTTTT(C/T)ACTCT intron-variant
rs1000262927 -- 40,150,312(+) GGCCA(C/G)AGCAA intron-variant
rs1000286190 -- 40,161,184(+) CATGC(C/T)GGCCA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CASC3 Gene

Variant ID Type Subtype PubMed ID
esv2675692 CNV deletion 23128226
esv3554410 CNV deletion 23714750
esv3640552 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv525796 CNV gain 19592680
nsv833444 CNV loss 17160897

Variation tolerance for CASC3 Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASC3 Gene

Disorders for CASC3 Gene

Relevant External Links for CASC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASC3

No disorders were found for CASC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASC3 Gene

Publications for CASC3 Gene

  1. The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly. (PMID: 17652158) Baguet A. … Tomasetto C. (J. Cell Sci. 2007) 3 4 22 64
  2. The crystal structure of the exon junction complex reveals how it maintains a stable grip on mRNA. (PMID: 16923391) Bono F. … Conti E. (Cell 2006) 3 4 22 64
  3. Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module. (PMID: 15166247) Degot S. … Tomasetto C. (J. Biol. Chem. 2004) 3 4 22 64
  4. Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. (PMID: 7490069) Tomasetto C.L. … Rio M.-C. (Genomics 1995) 2 3 4 64
  5. RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling. (PMID: 21478859) Zhang Y. … Cong F. (Nat. Cell Biol. 2011) 3 4 64

Products for CASC3 Gene

Sources for CASC3 Gene

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