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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CASC3
CASC3 exon junction complex subunit
Chromosome 17 · 17q21.1
NCBI Gene: 22794Ensembl: ENSG00000108349.19HGNC: HGNC:17040UniProt: O15234
100PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingDEAD/H-box RNA helicase bindingenzyme bindingubiquitin protein ligase bindingneurodegenerative diseaseplacental retentionMiyoshi myopathysecondary malignant neoplasm
✦AI Summary

CASC3 is a core component of the exon junction complex (EJC) that plays critical roles in post-transcriptional gene regulation. As a spliceosome component, CASC3 is deposited at exon-exon junctions during pre-mRNA splicing 12. However, CASC3 functions distinctly from other EJC core proteins as a peripheral EJC protein 3. The EJC undergoes compositional remodeling during mRNA metabolism, transitioning from RNPS1-containing to CASC3-containing complexes, which alters mRNP structure and specifies distinct phases of EJC-dependent nonsense-mediated mRNA decay (NMD) 4. CASC3 promotes transcriptome-wide activation of NMD by equipping the EJC with persistent ability to communicate with cytoplasmic NMD machinery, stimulating endonucleolytic cleavage at termination codons 3. Beyond splicing, CASC3 influences mRNA export, localization, and translation efficiency. In the central nervous system, EJC components including CASC3 control mitosis and symmetric/asymmetric cell divisions; reduced EJC levels cause microcephaly 5. Dysregulation of CASC3 is implicated in hepatocellular carcinoma, where CASC3 overexpression promotes cell proliferation, migration, invasion, and glycolysis via miR-124-1 and miR-490-5p regulatory axes 67. Additionally, AKT signaling can modulate NMD through CASC3-containing EJCs in contexts like Fragile X syndrome 8.

Sources cited
1
CASC3 required for pre-mRNA splicing as spliceosome component
PMID: 28502770
2
CASC3 required for pre-mRNA splicing as spliceosome component
PMID: 29301961
3
CASC3 is peripheral EJC protein that promotes NMD by enabling EJC-NMD machinery communication
PMID: 32621609
4
EJC undergoes compositional switch from RNPS1-containing to CASC3-containing complex that alters NMD activity
PMID: 30466796
5
EJC components control mitosis and cell divisions in CNS; reduced levels cause microcephaly
PMID: 29791316
6
miR-124-1 suppresses HCC tumorigenesis by targeting CASC3
PMID: 27029030
7
CASC3 upregulation via circ_0091579/miR-490-5p axis promotes HCC cell proliferation, migration, invasion, and glycolysis
PMID: 32673066
8
AKT signaling regulates NMD through CASC3-containing EJCs; relevant in Fragile X syndrome
PMID: 35675814
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
placental retentionOpen Targets
0.12Weak
Miyoshi myopathyOpen Targets
0.11Weak
secondary malignant neoplasmOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.09Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
asthmaOpen Targets
0.07Suggestive
Mantle cell lymphomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
multiple myelomaOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
sign or symptomOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPIEProtein interaction100%XAB2Protein interaction100%RBM22Protein interaction100%CDC5LProtein interaction100%PRPF19Protein interaction100%CDC40Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
82%
Lung
77%
Bone Marrow
56%
Heart
44%
Liver
39%
Gene Interaction Network
Click a node to explore
CASC3PPIEXAB2RBM22CDC5LPRPF19CDC40
PROTEIN STRUCTURE
Preparing viewer…
PDB2J0S · 2.21 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.34 [0.24–0.47]
RankingsWhere CASC3 stands among ~20K protein-coding genes
  • #4,767of 20,598
    Most Researched100 · top quartile
  • #2,650of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedCASC3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex.
PMID: 32621609
Nucleic Acids Res · 2020
1.00
2
The Exon Junction Complex Undergoes a Compositional Switch that Alters mRNP Structure and Nonsense-Mediated mRNA Decay Activity.
PMID: 30466796
Cell Rep · 2018
0.90
3
Prenatal per- and polyfluoroalkyl substance exposures and DNA methylation among newborns in the Environmental influences on Child Health Outcomes program.
PMID: 40401168
Environ Epigenet · 2025
0.80
4
Cell-Penetrating Peptides Predicted From CASC3, AKIP1, and AHRR Proteins.
PMID: 34504427
Front Pharmacol · 2021
0.70
5
Circular RNA circ_0091579 Promotes Hepatocellular Carcinoma Proliferation, Migration, Invasion, and Glycolysis Through miR-490-5p/CASC3 Axis.
PMID: 32673066
Cancer Biother Radiopharm · 2021
0.60