2. Gene
  3. UPF2 - UPF2 regulator of nonsense mediated mRNA decay Gene

UPF2 - UPF2 regulator of nonsense mediated mRNA decay Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HUPF2; RENT2; smg-3

Gene ID: 26019 | Gene type: protein coding

About UPF2

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:11,920,022-12,043,170 (from NCBI)

This gene has 4 transcripts (splice variants) and 219 orthologues. Ubiquitous expression in testis (RPKM 11.8), lymph node (RPKM 8.5) and 25 other tissues.

Summary

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 Products(2)

mRNA Protein Name
NM_015542.4 NP_056357.1 regulator of nonsense transcripts 2
NM_080599.3 NP_542166.1 regulator of nonsense transcripts 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
11163187 GOA
enables telomeric DNA binding IDA
IDA: Inferred from direct assay
17916692 GOA
Biological Process GO Annotation Evidence Reference Source
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: Inferred from mutant phenotype
18369367 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14636577 GOA
part of exon-exon junction complex IDA
IDA: Inferred from direct assay
16601204 GOA
located in nucleus IDA
IDA: Inferred from direct assay
14636577 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UPF2 Protein Structure

MIF4G

MIF4G: MIF4G domain (169 - 412)

MIF4G

MIF4G: MIF4G domain (573 - 757)

MIF4G

MIF4G: MIF4G domain (777 - 986)

Upf2

Upf2: Up-frameshift suppressor 2 (1046 - 1218)

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  • 1272 a.a.
Protein Preferred Names Protein Names

regulator of nonsense transcripts 2

FRS2/UPF2/LEMD3 fusion

UPF2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
UPF2 Q9HAU5 PUF60 Homo sapiens Q9UHX1
Validated Y2H
25416956
Intra
UPF2 Q9HAU5 PUF60 Homo sapiens Q9UHX1
Y2H Prey Pooling
25416956
Intra
UPF2 Q9HAU5 PUF60 Homo sapiens Q9UHX1
Y2H Array
25416956
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7-2
Pull Down
18066079
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7-2
TEM
22522823
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7-2
GMS
22522823
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
16452507
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
11163187
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Y2H
15231747
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Tag CoIP
12718880
Intra
UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
19503078
Intra
UPF2 Q9HAU5 UPF1 Homo sapiens Q92900
Anti Bait CoIP
11163187
Intra
UPF2 Q9HAU5 UPF1 Homo sapiens Q92900-2
Pull Down
18066079
Intra
UPF2 Q9HAU5 UPF1 Homo sapiens Q92900-2
ATPase Assay
18066079
Intra
UPF2 Q9HAU5 UPF3A Homo sapiens Q9H1J1
Pull Down
19503078
Intra
UPF2 Q9HAU5 UPF3A Homo sapiens Q9H1J1
Anti Bait CoIP
19503078
Intra
UPF2 Q9HAU5 UPF3A Homo sapiens Q9H1J1
SPR
20479275
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas
Atrial Septal Defect 8

ASD8

Atrial Heart Septal Defect 8

Septal Defect, Atrial, Type 8
Metaphyseal Chondrodysplasia, Schmid Type

MCDS

Schmid Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia Schmid Type

Spondylometaphyseal Dysplasia, Japanese Type

Japanese Type Spondylometaphyseal Dysplasia

Schmid Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia Type Schmid

Schmid Type Metaphyseal Chondrodysplasia

SMCD

Chondrodysplasia, Metaphyseal, Schmid Type

Corneal Dystrophy, Subepithelial Mucinous
Thrombocytopenia-Absent Radius Syndrome

Tar Syndrome

Radial Aplasia-Thrombocytopenia Syndrome

Absent Radii And Thrombocytopenia

TAR

Chromosome 1q21.1 Deletion Syndrome, 200-Kb

Thrombocytopenia Absent Radius Syndrome

Thrombocytopenia Absent Radii

Chromosome 1q21.1 Deletion Syndrome

Thrombocytopenia With Absent Radii Syndrome

Radial Aplasia-Amegakaryocytic Thrombocytopenia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15483 UPF2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus UPF2 VGNC VGNC:36681
Mus musculus UPF2 MGD MGI:2449307
Rattus norvegicus UPF2 RGD RGD:1309178
Canis familiaris UPF2 VGNC VGNC:48151
Macaca mulatta UPF2 VGNC VGNC:106115