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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]
UPF2 (UPF2 Regulator Of Nonsense Mediated MRNA Decay) is a Protein Coding gene. Diseases associated with UPF2 include Pancreatic Adenosquamous Carcinoma and Metaphyseal Chondrodysplasia, Schmid Type. Among its related pathways are Gene Expression and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include RNA binding and binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 11163187 |
GO:0042162 | telomeric DNA binding | IDA | 17916692 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 14636577 |
GO:0005737 | cytoplasm | IDA | 14636577 |
GO:0005829 | cytosol | TAS | -- |
GO:0005844 | polysome | IBA | 21873635 |
GO:0035145 | exon-exon junction complex | IBA,IDA | 16601204 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Viral mRNA Translation | ||
2 | Translational Control | ||
3 | mRNA surveillance pathway | ||
4 | RNA transport | ||
5 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | IBA,TAS | 16488880 |
GO:0001889 | liver development | IEA | -- |
GO:0006406 | mRNA export from nucleus | TAS | 16488880 |
GO:0031100 | animal organ regeneration | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP3: | - |
ExUns: | 25 |
---|---|
SP1: | |
SP2: | |
SP3: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | UPF2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | UPF2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | UPF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | UPF2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Upf2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Upf2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | UPF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | UPF2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | upf2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14937 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | upf2 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000337 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Upf2 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | smg-3 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NMD2 30 31 33 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D13156g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR364C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G39260 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05267 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | upf2 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714446 | Likely Benign: not provided | 11,943,060(-) | G/A | INTRON_VARIANT | |
714447 | Benign: not provided | 11,956,529(-) | A/T | INTRON_VARIANT | |
714448 | Benign: not provided | 11,959,276(-) | G/A | SYNONYMOUS_VARIANT | |
718772 | Benign: not provided | 12,035,070(-) | A/G | SYNONYMOUS_VARIANT | |
719186 | Benign: not provided | 12,029,317(-) | A/G | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pancreatic adenosquamous carcinoma |
|
|
metaphyseal chondrodysplasia, schmid type |
|
|
retinitis pigmentosa 51 |
|
|