UPF2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
UPF2 (HGNC:17854) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
UPF2 regulator of nonsense mediated mRNA decay
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
RENT2, DKFZP434D222, KIAA1408, smg-3
%HI
12.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.16(Read more about gnomAD LOEUF score)
Cytoband
10p14
Genomic Coordinates
GRCh37/hg19: chr10:11962021-12085169 NCBI Ensembl UCSC
GRCh38/hg38: chr10:11920022-12043170 NCBI Ensembl UCSC
MANE Select Transcript
NM_015542.4 ENST00000357604.10 (Read more about MANE Select)
Function
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase and RNA helicase activities of UPF1. Binds s... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33655
ClinGen Curation ID:
CCID:008083
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/13/2019

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Evidence supporting haploinsufficiency of UPF2 is currently lacking; therefore the haploinsufficiency score is 0. Additional related evidence is summarized below. PMID 23376982: Nguyen et al. (2013) performed a focused analysis of genes in the NMD pathway to search for CNVs enriched in individuals with ID and/or congenital anomalies. They identified 11 cases with heterozygous UPF2 deletions (ranging in size from 2.0-15.5 Mb) and reported a 234 kb minimal deletion overlap region containing UPF2. As these deletions are non-focal, these cases are not included as evidence supporting haploinsufficiency. PMIDs 28135719 and 28191890: A de novo frameshift sequence variant of UPF2 was identified in a female patient with a developmental disorder, however, the clinical description of this individual was not available (Deciphering Developmental Disorders Study. 2017).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Evidence supporting triplosensitivity of UPF2 is currently lacking; therefore the triplosensitivity score is 0. Additional related evidence is summarized below. PMID 23376982: Nguyen et al. (2013) performed a focused analysis of genes in the NMD pathway to search for CNVs enriched in individuals with ID and/or congenital anomalies. They identified 13 cases with heterozygous UPF2 duplications (ranging in size from 12.7-37.7 Mb), in addition to 11 Mb-range sized deletions, and reported a 234 kb minimal deletion overlap region containing UPF2. As these duplications are non-focal, these cases are not included as evidence supporting triplosensitivity.

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)