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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SDE2
spliceosome associated SDE2
Chromosome 1 · 1q42.12
NCBI Gene: 163859Ensembl: ENSG00000143751.11HGNC: HGNC:26643UniProt: Q6IQ49
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
damaged DNA bindingprotein bindingsnoRNA bindingendonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)neurodegenerative diseaseBack painnephritisMyasthenia gravis
✦AI Summary

SDE2 is a multifunctional spliceosome-associated protein with dual roles in pre-mRNA splicing and ribosome biogenesis. As a ubiquitin-fold-containing protein, SDE2 functions as both an RNA-binding protein and trans-acting adaptor factor 1. In splicing, SDE2 is activated by ubiquitin-specific proteases that cleave its N-terminal ubiquitin-like domain, generating a short-lived C-terminal fragment that incorporates into spliceosomes 2. This activated form promotes intron-specific splicing, particularly of introns with distant branchpoint-3' splice site spacing, by facilitating spliceosomal association of regulatory factors like Cactin 3. SDE2 also contributes to spliceosome disassembly by docking on catalytic U6 snRNA alongside DHX15 helicase to initiate the transition from active to post-catalytic spliceosomes 4. In ribosome biogenesis, SDE2 binds snoRNAs (SNORD3 and SNORD118) to enable cleavage of 47S rRNA precursors 1. Additionally, SDE2 participates in genome surveillance by regulating replication stress responses through PCNA-dependent processing and subsequent degradation via the Arg/N-end rule pathway 56. SDE2 depletion causes widespread splicing defects, ribosome biogenesis impairment, and cell death 1, establishing it as essential for fundamental cellular processes.

Sources cited
1
SDE2 is an RNA-binding protein and adaptor functioning in alternative splicing and ribosome biogenesis; binds SNORD3 and SNORD118 to enable 47S rRNA cleavage
PMID: 34365507
2
SDE2 is a ubiquitin-fold splicing regulator activated by ubiquitin-specific proteases; supports intron-specific splicing
PMID: 28947618
3
Ubiquitin-fold-activated SDE2 promotes splicing of introns with branchpoint-distant 3' splice sites
PMID: 36095128
4
SDE2 is a general spliceosome subunit that docks and activates DHX15 on U6 snRNA to initiate spliceosome disassembly
PMID: 38925148
5
SDE2 is regulated by PCNA-dependent cleavage at a diglycine motif and degraded by CRL4CDT2 in response to replication stress
PMID: 27906959
6
SDE2 C-terminal fragment is degraded via the Arg/N-end rule pathway to regulate replication fork stress response
PMID: 30698750
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
Back painOpen Targets
0.21Weak
nephritisOpen Targets
0.20Weak
Myasthenia gravisOpen Targets
0.20Weak
response to surgeryOpen Targets
0.19Weak
NephropathyOpen Targets
0.19Weak
vascular diseaseOpen Targets
0.15Weak
toxoplasmosisOpen Targets
0.09Suggestive
Miyoshi myopathyOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
multiple myelomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
urinary bladder carcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XAB2Protein interaction100%RBM22Protein interaction100%CDC5LProtein interaction100%BCAS2Protein interaction100%PRPF19Protein interaction100%CDC40Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
39%
Lung
33%
Heart
31%
Ovary
23%
Liver
22%
Gene Interaction Network
Click a node to explore
SDE2XAB2RBM22CDC5LBCAS2PRPF19CDC40
PROTEIN STRUCTURE
Preparing viewer…
PDB8C6J · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.48–1.00]
RankingsWhere SDE2 stands among ~20K protein-coding genes
  • #10,689of 20,598
    Most Researched37
  • #9,596of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedSDE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mechanism for the initiation of spliceosome disassembly.
PMID: 38925148
Nature · 2024
1.00
2
SDE2 is an essential gene required for ribosome biogenesis and the regulation of alternative splicing.
PMID: 34365507
Nucleic Acids Res · 2021
0.90
3
Intron specificity in pre-mRNA splicing.
PMID: 29299619
Curr Genet · 2018
0.80
4
Splicing of branchpoint-distant exons is promoted by Cactin, Tls1 and the ubiquitin-fold-activated Sde2.
PMID: 36095128
Nucleic Acids Res · 2022
0.70
5
Sde2 is an intron-specific pre-mRNA splicing regulator activated by ubiquitin-like processing.
PMID: 28947618
EMBO J · 2018
0.60