UPF2 Gene Summary [Human]

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
UPF2
Official Name
UPF2 regulator of nonsense mediated mRNA decay [Source:HGNC Symbol;Acc:HGNC:17854]
Ensembl ID
ENSG00000151461
Bio databases IDs NCBI: 26019 Ensembl: ENSG00000151461
Aliases UPF2 regulator of nonsense mediated mRNA decay, smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms C76554, HUPF2, RENT2, smg-3, UPF2 regulator of nonsense mediated mRNA decay, UPF2, regulator of nonsense mediated mRNA decay, UPF2 regulator of nonsense transcripts homolog (yeast)
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UPF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • eIF4G homology domain
  • Up-frameshift suppressor 2
  • MIF4G domain
  • protein binding
  • telomeric DNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hepatic steatosis
  • inflexible behavior disorder
  • neurodevelopmental disorder
  • pervasive developmental disorder
  • reactive astrogliosis
regulated by
regulates
role in cell
  • activation
  • number
  • survival
  • cell survival
  • josamycin sensitivity
  • G1/S phase transition

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytoplasmic ribonucleoprotein granule
  • perinuclear region
  • Nucleus
  • cytosol
  • perinuclear space

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human UPF2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mRNA export from nucleus
  • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
  • liver development
  • organ regeneration

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • exon-exon junction complex
  • perinuclear region of cytoplasm
  • cytoplasm
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding
  • telomeric DNA binding

Gene-Specific Assays for Results You Can Trust

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