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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UPF2
UPF2 regulator of nonsense mediated mRNA decay
Chromosome 10 · 10p14
NCBI Gene: 26019Ensembl: ENSG00000151461.21HGNC: HGNC:17854UniProt: Q9HAU5
127PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingexon-exon junction complextelomeric repeat DNA bindingnuclear-transcribed mRNA catabolic process, nonsense-mediated decayautism spectrum disordercoronary atherosclerosisTietze syndrometype 2 diabetes mellitus
✦AI Summary

UPF2 is a core component of the nonsense-mediated mRNA decay (NMD) pathway, a translational surveillance mechanism that eliminates mRNAs containing premature stop codons 1. UPF2 functions as a molecular platform that bridges UPF1 to the exon junction complex (EJC) through interaction with UPF3B, forming the conserved UPF1-UPF2-UPF3 surveillance complex 2. Mechanistically, UPF2 stimulates both ATPase and RNA helicase activities of UPF1 cooperatively with UPF3B 2, while its MIF4G domains bind and unfold RNA secondary structures to stabilize single-stranded RNA, supporting UPF1's remodeling activity 3. UPF2 also directly interacts with the SURF complex and eRF3 at the ribosome, serving as a transient interaction hub for multiple NMD factors 1. Notably, UPF1's CH domain engagement with UPF2 precludes SMG6 endonuclease recruitment, suggesting distinct NMD complex configurations regulate pathway activity 4. Disease relevance: UPF3B mutations causing intellectual disability impair UPF2 binding affinity, with the Y160D mutation reducing binding ~40-fold 5. Clinically, disrupted UPF2 function correlates with altered NMD target stability and is implicated in inflammatory myofibroblastic tumors 6. UPF2 protein levels are regulated by both the ubiquitin-proteasome system and SMG1-dependent pathways 7.

Sources cited
1
UPF2 interacts directly with eRF3 and associates with SURF complex; functions as platform for transient interactions of NMD factors
PMID: 26740584
2
UPF2's MIF4G domains bind RNA; domain 3 has annealing activity; full-length UPF2 unfolds RNA and stabilizes single-stranded RNA
PMID: 40246535
3
UPF1 CH domain binding to UPF2 precludes SMG6 endonuclease interaction; distinct NMD complex configurations regulated by RNA-binding status
PMID: 38709891
4
Proteasome inhibitors and SMG1 knockdown cause UPF2 protein accumulation; different degradation pathways involved
PMID: 24173962
5
UPF3B-Y160D disease-causing mutation reduces UPF2 binding affinity ~40-fold; UPF3A binds UPF2 with ~10-fold higher affinity
PMID: 35640974
6
SARS-CoV-2 N-protein interacts with UPF2 and negates its stimulatory effect on UPF1 catalytic activity
PMID: 39360627
7
UPF2 and UPF3b cooperatively stimulate ATPase and RNA helicase activities of UPF1; EJC core sufficient to anchor UPF proteins to mRNA
PMID: 18066079
8
Alternative spliced UPF2 truncation in pancreatic inflammatory myofibroblastic tumors disrupts NMD pathway and upregulates NMD targets
PMID: 38056247
Disease Associationsⓘ20
autism spectrum disorderOpen Targets
0.33Weak
coronary atherosclerosisOpen Targets
0.31Weak
Tietze syndromeOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.25Weak
VertigoOpen Targets
0.24Weak
neoplasmOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
Pallister-Hall syndromeOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
chondrocalcinosisOpen Targets
0.03Suggestive
Abnormality of limbsOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
polycystic ovary syndromeOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_015542.4(UPF2):c.2021_2024del (p.Thr674fs)Pathogenic
not provided
★☆☆☆2020→ Residue 674
View on ClinVar ↗
Related Genes
STAU1Protein interaction100%DCP2Protein interaction100%LSM1Protein interaction100%NCBP2Protein interaction99%EIF4A1Protein interaction99%ETF1Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
71%
Ovary
67%
Heart
64%
Lung
52%
Liver
52%
Gene Interaction Network
Click a node to explore
UPF2STAU1DCP2LSM1NCBP2EIF4A1ETF1
PROTEIN STRUCTURE
Preparing viewer…
PDB1UW4 · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.16Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.06–0.16]
RankingsWhere UPF2 stands among ~20K protein-coding genes
  • #3,708of 20,598
    Most Researched127 · top quartile
  • #4,817of 5,498
    Most Pathogenic Variants1
  • #251of 17,882
    Most Constrained (LOEUF)0.16 · top 5%
Genes detectedUPF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human nonsense-mediated mRNA decay factor UPF2 interacts directly with eRF3 and the SURF complex.
PMID: 26740584
Nucleic Acids Res · 2016
1.00
2
Dynamic RNA binding and unfolding by nonsense-mediated mRNA decay factor UPF2.
PMID: 40246535
RNA · 2025
0.90
3
UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2.
PMID: 38709891
Nucleic Acids Res · 2024
0.80
4
Proteasome inhibitors and knockdown of SMG1 cause accumulation of Upf1 and Upf2 in human cells.
PMID: 24173962
Int J Oncol · 2014
0.70
5
Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation.
PMID: 35640974
Nucleic Acids Res · 2022
0.60