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 local... See more...

Aliases for CASC3 Gene

Aliases for CASC3 Gene

  • CASC3 Exon Junction Complex Subunit 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
  • Cancer Susceptibility 3 2 3
  • Protein Barentsz 3 4
  • Protein CASC3 3 4
  • MLN 51 3 4
  • MLN51 3 4
  • Metastatic Lymph Node 51 3
  • Barentsz 3
  • BTZ 3
  • Btz 4

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 (CASC3 Exon Junction Complex Subunit) is a Protein Coding gene. Diseases associated with CASC3 include Chronic Polyneuropathy and Spherocytosis, Type 5. Among its related pathways are Gene Expression and Transport of Mature Transcript to Cytoplasm. Gene Ontology (GO) annotations related to this gene include enzyme binding.

UniProtKB/Swiss-Prot Summary for CASC3 Gene

  • Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). 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

Additional gene information for CASC3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASC3 Gene

Genomics for CASC3 Gene

GeneHancer (GH) Regulatory Elements for CASC3 Gene

Promoters and enhancers for CASC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J040138 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 507.2 +0.1 85 3.2 HNRNPK EP300 ZSCAN5C SIN3A NRF1 TCF12 ZNF300 POLR2G BCLAF1 RBAK CASC3 lnc-NR1D1-2 MED1 SMARCE1 CDK12 SNORD124 MED24 MSL1 RPL19 IGFBP4
GH17J040102 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -30.8 -30812 13.4 EP300 FOXK2 ZNF217 CTCF SIN3A NRF1 TCF12 MYC POLR2G USF1 NR1D1 MED1 SMARCE1 CDK12 MSL1 MED24 CASC3 THRA IGFBP4 RPL19
GH17J040175 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +38.5 38490 6.1 ZNF217 NRF1 MYC ZIC2 REST ZBTB26 KLF4 CTBP1 ZEB1 HDAC2 RAPGEFL1 CASC3 MSL1 CDC6 ENSG00000266208 KRTAP4-6 HSALNG0116331
GH17J040190 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +51.1 51135 2 CTCF NRF1 POLR2G ZIC2 ZBTB10 ZNF423 ZBTB26 TARDBP SAP30 REST HSALNG0116331 MSL1 WIPF2 CDC6 CASC3 THRA RARA RAPGEFL1
GH17J040167 Enhancer 1.1 Ensembl ENCODE dbSUPER 13.2 +28.2 28195 1.2 CTCF TEAD4 ZNF10 REST TGIF2 RAD21 SKI TRIM22 TEAD1 SMC3 NONHSAG021736.2 CASC3 MSL1 MED24 RARA ENSG00000266208 TCAP HSALNG0116328
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASC3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASC3

Top Transcription factor binding sites by QIAGEN in the CASC3 gene promoter:
  • C/EBPalpha
  • GATA-1
  • GATA-2
  • HNF-4alpha1
  • HOXA5
  • Lmo2
  • Olf-1
  • Pax-2
  • Pax-2a
  • POU6F1 (c2)

Genomic Locations for CASC3 Gene

Genomic Locations for CASC3 Gene
chr17:40,140,254-40,172,178
(GRCh38/hg38)
Size:
31,925 bases
Orientation:
Plus strand
chr17:38,296,507-38,328,436
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for CASC3 Gene

Proteins for CASC3 Gene

  • 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:
    • Identified in the spliceosome C complex (PubMed:28502770, PubMed:29301961). Component of the mRNA splicing-dependent exon junction complex (EJC), which contains at least CASC3, EIF4A3, MAGOH, NXF1 and RBM8A/Y14 (PubMed:15166247, PubMed:16170325, PubMed:16314458, PubMed:16923391, PubMed:16931718, PubMed:19033377, PubMed:20479275). Identified in a complex composed of the EJC core, UPF3B and UPF2. The EJC core can also interact with UPF3A (in vitro) (PubMed:20479275). Forms homooligomers (By similarity). Interacts with STAU in an RNA-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for CASC3 Gene

neXtProt entry for CASC3 Gene

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 Lys205
  • Modification sites at PhosphoSitePlus

Other Protein References for CASC3 Gene

No data available for DME Specific Peptides for CASC3 Gene

Domains & Families for CASC3 Gene

Gene Families for CASC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CASC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASC3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60283, highly similar to Protein CASC3 (B4DKR6_HUMAN)
  • Protein barentsz (CASC3_HUMAN)

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

Molecular function for CASC3 Gene

UniProtKB/Swiss-Prot Function:
Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). 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.

Phenotypes From GWAS Catalog for CASC3 Gene

Gene Ontology (GO) - Molecular Function for CASC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,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:
  • Casc3 Casc3<tm1.1(KOMP)Vlcg>
  • Casc3 Casc3<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASC3

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. Cytoplasm, perinuclear region. Nucleus. Nucleus speckle. Cytoplasm, Stress granule. Cytoplasm, Cytoplasmic ribonucleoprotein granule. Cell projection, dendrite. Note=Shuttles between the nucleus and the cytoplasm in a XPO1/CRM1-dependent manner. Transported to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA (PubMed:15166247). In nuclear speckles, colocalizes with MAGOH. Under stress conditions, colocalizes with FMR1 and TIA1, but not MAGOH and RBM8A EJC core factors, in cytoplasmic stress granules (PubMed:17652158). In the dendrites of hippocampal neurons, localizes to dendritic ribonucleoprotein granules (By similarity). {ECO:0000250 UniProtKB:Q8K3X0, ECO:0000269 PubMed:15166247, ECO:0000269 PubMed:17652158}.

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
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
extracellular 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 29301961
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
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:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA 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

No Compound Related Data Available

Transcripts for CASC3 Gene

mRNA/cDNA for CASC3 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASC3

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

Expression for CASC3 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.2)
  • Bone marrow(2.2)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with CASC3: view

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 31 30
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CASC3 31 30
  • 93.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CASC3 31 30
  • 92.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casc3 30
  • 87.94 (n)
mouse
(Mus musculus)
Mammalia Casc3 17 31 30
  • 87.06 (n)
oppossum
(Monodelphis domestica)
Mammalia CASC3 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASC3 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASC3 30
  • 71.29 (n)
lizard
(Anolis carolinensis)
Reptilia CASC3 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casc3 30
  • 63.29 (n)
zebrafish
(Danio rerio)
Actinopterygii casc3 31
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta btz 31
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W08E3.2 31
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CASC3: view image

Paralogs for CASC3 Gene

No data available for Paralogs for CASC3 Gene

Variants for CASC3 Gene

Additional dbSNP identifiers (rs#s) for CASC3 Gene

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)

Additional Variant Information for CASC3 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASC3 Gene

Disorders for CASC3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CASC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chronic polyneuropathy
spherocytosis, type 5
  • sph5
kabuki syndrome 1
  • kms
bone marrow cancer
  • bone marrow neoplasm
myeloma, multiple
  • multiple myeloma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search CASC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CASC3

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

No data available for 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 (Journal of cell science 2007) 3 4 23 54
  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 23 54
  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 (The Journal of biological chemistry 2004) 3 4 23 54
  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 … Rio MC (Genomics 1995) 2 3 4 54
  5. Structure of a human catalytic step I spliceosome. (PMID: 29301961) Zhan X … Shi Y (Science (New York, N.Y.) 2018) 3 4 54

Products for CASC3 Gene

Sources for CASC3 Gene