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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NRDE2
NRDE-2, necessary for RNA interference, domain containing
Chromosome 14 · 14q32.11
NCBI Gene: 55051Ensembl: ENSG00000119720.19HGNC: HGNC:20186UniProt: Q9H7Z3
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionnuclear speckDNA damage responseRNA splicingneurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing lossliver diseasecervical carcinomaNeurodevelopmental disorder
✦AI Summary

NRDE2 is a nuclear protein that functions as a critical regulator of RNA processing and quality control pathways. The protein localizes primarily to nuclear speckles where it negatively regulates the nuclear exosome by forming a 1:1 complex with the MTR4 helicase 1. NRDE2 inhibits MTR4 recruitment to the exosome and locks MTR4 in a closed conformation, preventing degradation of mRNAs and lncRNAs and thereby promoting their nuclear export 1. Additionally, NRDE2 serves as an essential RNA splicing factor, specifically suppressing intron retention in pre-mRNAs containing short, GC-rich introns with weak splice sites 2. The protein associates with U5 snRNP components and regulates splicing of critical transcripts like CEP131, which is essential for centrosome maturation and mitotic progression 2. Recent proteomic studies reveal NRDE2 interacts with transcriptional machinery including the PAF1 complex and RNA polymerase II, suggesting broader roles in gene expression 3. NRDE2 also contributes to DNA damage response and homologous recombination repair through its interaction with casein kinase 2, facilitating MDC1 phosphorylation 4. Loss-of-function mutations in NRDE2, such as the p.N377I variant, are associated with increased hepatocellular carcinoma susceptibility and sensitivity to PARP inhibitors 4.

Sources cited
1
NRDE2 forms 1:1 complex with MTR4 and negatively regulates nuclear exosome function
PMID: 30842217
2
NRDE2 is essential RNA splicing factor suppressing intron retention and regulating CEP131 splicing
PMID: 30538148
3
NRDE2 interacts with PAF1 complex and RNA polymerase II, suggesting broader transcriptional roles
PMID: 41097056
4
NRDE2 promotes homologous recombination repair via CK2 interaction and MDC1 phosphorylation
PMID: 38697125
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing lossOpen Targets
0.34Weak
liver diseaseOpen Targets
0.30Weak
cervical carcinomaOpen Targets
0.29Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
autism spectrum disorderOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
kidney cancerOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZCCHC8Protein interaction100%ZFC3H1Protein interaction100%MTREXProtein interaction98%PPP2R2AProtein interaction86%PPP2R2BProtein interaction86%PHF13Shared pathway22%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
96%
Brain
85%
Ovary
76%
Lung
62%
Heart
57%
Gene Interaction Network
Click a node to explore
NRDE2ZCCHC8ZFC3H1MTREXPPP2R2APPP2R2BPHF13
PROTEIN STRUCTURE
Preparing viewer…
PDB6IEH · 2.89 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.47–0.70]
RankingsWhere NRDE2 stands among ~20K protein-coding genes
  • #11,201of 20,598
    Most Researched34
  • #5,283of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedNRDE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NRDE2 Interacts with an Early Transcription Elongation Complex and Widely Impacts Gene Expression.
PMID: 41097056
Int J Mol Sci · 2025
1.00
2
NRDE2 deficiency impairs homologous recombination repair and sensitizes hepatocellular carcinoma to PARP inhibitors.
PMID: 38697125
Cell Genom · 2024
0.90
3
Human nuclear RNAi-defective 2 (NRDE2) is an essential RNA splicing factor.
PMID: 30538148
RNA · 2019
0.80
4
NRDE2 negatively regulates exosome functions by inhibiting MTR4 recruitment and exosome interaction.
PMID: 30842217
Genes Dev · 2019
0.70
5
A Conserved NRDE-2/MTR-4 Complex Mediates Nuclear RNAi in
PMID: 33055090
Genetics · 2020
0.60