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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CWC22
CWC22 spliceosome associated protein
Chromosome 2 · 2q31.3
NCBI Gene: 57703Ensembl: ENSG00000163510.15HGNC: HGNC:29322UniProt: Q9HCG8
90PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingmRNA splicing, via spliceosomeU2-type catalytic step 1 spliceosomeneurodegenerative diseasedengue diseasemathematical abilitylagophthalmos
✦AI Summary

CWC22 is a critical spliceosome-associated protein that performs dual functions in pre-mRNA splicing and exon junction complex (EJC) assembly. As an integral component of the spliceosome, CWC22 is required for efficient pre-mRNA splicing and directly interacts with the core EJC component eIF4AIII 1. The protein prevents eIF4AIII from non-specifically binding RNA and escorts it to the splicing machinery, where it facilitates EJC assembly on mature mRNAs 12. CWC22 depletion causes global splicing defects and downregulation of diverse gene expression pathways 2. Through its role in EJC assembly, CWC22 is essential for nonsense-mediated mRNA decay (NMD) pathway function 3. Structural studies reveal that CWC22 forms a heterodimer with CWC27 and creates an intermediate platform for eIF4AIII recruitment to the spliceosome 45. Clinically, CWC22 dysfunction has been implicated in retinal degeneration and inflammatory processes, with disrupted CWC22 nuclear localization observed in atherosclerotic macrophages leading to impaired splicing regulation 64. The protein's expression levels may serve as prognostic markers in colon cancer 7.

Sources cited
1
CWC22 directly contacts eIF4AIII, prevents non-specific RNA binding, and escorts it to spliceosomes for EJC assembly
PMID: 22961380
2
CWC22 depletion causes global pre-mRNA splicing defects and downregulation of gene expression pathways
PMID: 25870412
3
CWC22 plays essential role in coupling splicing to EJC deposition and nonsense-mediated decay
PMID: 23236153
4
CWC22 forms heterodimer with CWC27 and is linked to retinal degeneration when mutated
PMID: 32329775
5
Structural evidence of CWC22 in human spliceosome C* complex
PMID: 28502770
6
Disrupted CWC22 nuclear localization in atherosclerotic macrophages leads to impaired splicing regulation
PMID: 27525442
7
CWC22 expression levels associated with survival in colon cancer patients
PMID: 32345988
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
dengue diseaseOpen Targets
0.37Weak
mathematical abilityOpen Targets
0.36Weak
lagophthalmosOpen Targets
0.32Weak
intestinal infectious diseaseOpen Targets
0.31Weak
malunion fractureOpen Targets
0.31Weak
post term pregnancyOpen Targets
0.31Weak
drug allergyOpen Targets
0.29Weak
intelligenceOpen Targets
0.26Weak
self-injurious ideationOpen Targets
0.26Weak
prostate carcinomaOpen Targets
0.24Weak
attention deficit hyperactivity disorderOpen Targets
0.21Weak
autism spectrum disorderOpen Targets
0.21Weak
muscular dystrophyOpen Targets
0.20Weak
Abruptio PlacentaeOpen Targets
0.19Weak
Peptic ulcerOpen Targets
0.19Weak
adverse effectOpen Targets
0.17Weak
poisoningOpen Targets
0.17Weak
response to stimulusOpen Targets
0.17Weak
Tietze syndromeOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ASCC3Protein interaction100%HFM1Protein interaction100%SRRM3Protein interaction100%PRPF18Protein interaction100%SNRNP200Protein interaction100%TFIP11Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
88%
Heart
86%
Lung
75%
Brain
75%
Liver
67%
Gene Interaction Network
Click a node to explore
CWC22ASCC3HFM1SRRM3PRPF18SNRNP200TFIP11
PROTEIN STRUCTURE
Preparing viewer…
PDB4C9B · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.49–0.88]
RankingsWhere CWC22 stands among ~20K protein-coding genes
  • #5,299of 20,598
    Most Researched90
  • #7,742of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCWC22
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
An Atomic Structure of the Human Spliceosome.
PMID: 28502770
Cell · 2017
0.90
3
Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly.
PMID: 22961380
Nat Struct Mol Biol · 2012
0.80
4
Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers.
PMID: 32345988
Sci Rep · 2020
0.70
5
Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
PMID: 32329775
Nucleic Acids Res · 2020
0.60