UPF2: Regulator of Nonsense-Mediated mRNA Decay
A key component in mRNA surveillance and quality control
Gene Information Card
| Symbol | UPF2 |
|---|---|
| Full Name | UPF2, regulator of nonsense mediated mRNA decay |
| Gene Type | protein-coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 26019 ncbi.nlm.nih.gov/gene/26019 |
| Ensembl ID | ENSG00000151465 |
| UniProt ID | Q9HAU5 |
| OMIM ID | 605529 |
| HGNC ID | 17858 |
| Aliases | RENT2, HUPF2, smg-3 |
Description
UPF2 is a core component of the nonsense-mediated mRNA decay (NMD) pathway, a surveillance mechanism that degrades mRNAs containing premature termination codons (PTCs) to prevent the production of truncated and potentially harmful proteins. UPF2 acts as a bridge between UPF1 and UPF3, facilitating the assembly of the NMD complex and promoting mRNA decay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy | Loss-of-function mutations in UPF2 impair NMD, leading to accumulation of aberrant transcripts and neuronal dysfunction | ClinVar; PMID: 28251916 |
| Intellectual disability | Disruption of NMD due to UPF2 mutations affects neuronal gene expression and synaptic function | ClinVar; PMID: 28251916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 7.3 | Low |
| Heart | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical carcinoma cells |
| SH-SY5Y | 11.4 | Neuroblastoma cells |
| K562 | 9.7 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop codon, loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Frameshift, loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Likely damaging, reduced NMD activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate UPF2 impair NMD, leading to accumulation of PTC-containing mRNAs.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nonsense-mediated mRNA decay | • RNA binding |
| • protein binding | • mRNA binding |
| • nucleus | • cytoplasm |
Pathways
• Nonsense-Mediated Decay (NMD)
• mRNA Surveillance Pathway
Protein Summary
UPF2 is a 1272-amino acid protein that contains multiple protein interaction domains, including a UPF1-binding domain and a UPF3-binding domain. It localizes to both the nucleus and cytoplasm and is essential for the assembly of the NMD complex. UPF2 recruits UPF1 to the exon junction complex (EJC) and stimulates its ATPase and helicase activities, leading to mRNA degradation.
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