UPF2 (UPF2 regulator of nonsense mediated mRNA decay)

2014-11-01  

Identity

HGNC
LOCATION
10p14
LOCUSID
ALIAS
HUPF2,RENT2,smg-3
FUSION GENES

Other Information

Locus ID:

NCBI: 26019
MIM: 605529
HGNC: 17854
Ensembl: ENSG00000151461

Variants:

dbSNP: 26019
ClinVar: 26019
TCGA: ENSG00000151461
COSMIC: UPF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151461ENST00000356352Q9HAU5
ENSG00000151461ENST00000357604Q9HAU5
ENSG00000151461ENST00000397053Q9HAU5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Exon junction complex (EJC)KEGGhsa_M00430
Exon junction complex (EJC)KEGGM00430
Gene ExpressionREACTOMER-HSA-74160
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957

References

Pubmed IDYearTitleCitations
180660792008NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity.128
214193442011Molecular mechanisms for the RNA-dependent ATPase activity of Upf1 and its regulation by Upf2.110
164496412006hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay.103
150045472004The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3.74
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
195569692009Unusual bipartite mode of interaction between the nonsense-mediated decay factors, UPF1 and UPF2.66
161868202005CBP80 promotes interaction of Upf1 with Upf2 during nonsense-mediated mRNA decay in mammalian cells.62
178039422007Communication with the exon-junction complex and activation of nonsense-mediated decay by human Upf proteins occur in the cytoplasm.42
250023212014Structures of SMG1-UPFs complexes: SMG1 contributes to regulate UPF2-dependent activation of UPF1 in NMD.26
189876182009Screening for replication of genome-wide SNP associations in sporadic ALS.14

Citation

Dessen P

UPF2 (UPF2 regulator of nonsense mediated mRNA decay)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75496/upf2