The UPF3B gene homepage

General information
Gene symbol UPF3B
Gene name UPF3 regulator of nonsense transcripts homolog B (yeast)
Chromosome X
Chromosomal band q25-q26
Imprinted Unknown
Genomic reference NG_009241.1
Transcript reference NM_080632.2
Exon/intron information NM_080632.2 exon/intron table
Associated with diseases ID, MRX14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 39
Unique public DNA variants reported 32
Individuals with public variants 20
Hidden variants 4
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created March 06, 2009
Date last updated January 11, 2023
Version UPF3B:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_080632.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 20439
Entrez Gene 65109
PubMed articles UPF3B
OMIM - Gene 300298
OMIM - Diseases MRX14 (mental retardation, X-linked, syndromic, type 14 (MRX14))
GeneCards UPF3B
GeneTests UPF3B
Orphanet UPF3B

Active transcripts




NCBI ID     

NCBI Protein ID     

00000199 X UPF3 regulator of nonsense transcripts homolog B (yeast), transcript variant 1 NM_080632.2 NP_542199.1 39

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.