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UPF2 - UPF2 regulator of nonsense mediated mRNA decay Gene

Also Known as HUPF2; RENT2; smg-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26019

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	References	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	References	Source
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	18369367	GOA

Cellular Component GO Annotation	Evidence	References	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

Upf2

0
200
400
600
800
1000
1200
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	References
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

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 Set	/	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
Others	UPF2	NCBI