UBQLN2 gene homepage

General information
Gene symbol UBQLN2
Gene name ubiquilin 2
Chromosome X
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NG_016249.1
Transcript reference NM_013444.3
Exon/intron information NM_013444.3 exon/intron table
Associated with diseases ALS-15
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 20
Unique public DNA variants reported 12
Individuals with public variants 10
Hidden variants 0
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 30, 2018
Version UBQLN2:180730

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_013444.3.
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 https://www.LOVD.nl/UBQLN2
External URL Orphanet
HGNC 12509
Entrez Gene 29978
PubMed articles UBQLN2
OMIM - Gene 300264
OMIM - Diseases ALS-15 (sclerosis, lateral, amyotrophic, type 15, with or without frontotemporal dementia (ALS-15))
HGMD UBQLN2
GeneCards UBQLN2
GeneTests UBQLN2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022287 X ubiquilin 2 NM_013444.3 NP_038472.2 20


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2009-2019. 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.

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