The OPTN gene homepage

General information
Gene symbol OPTN
Gene name optineurin
Chromosome 10
Chromosomal band p13
Imprinted Unknown
Genomic reference NC_000010.10
Transcript reference NM_001008212.2, NM_021980.4
Associated with diseases ALS, FTLD
Citation reference(s) -
Curators (1) XY Liu
Total number of public variants reported 32
Unique public DNA variants reported 28
Individuals with public variants 31
Hidden variants -
Date created March 30, 2017
Date last updated January 23, 2024
Version OPTN:240123

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 17142
Entrez Gene 10133
PubMed articles OPTN
OMIM - Gene 602432
OMIM - Diseases ALS (Amyotrophic Lateral Sclerosis)
FTLD (Frontotemporal Lobar Degeneration)
HGMD OPTN
GeneCards OPTN
GeneTests OPTN


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000234 10 transcript variant 2 NM_021980.4 NP_068815.2 29
00000323 10 transcript variant 3 NM_001008212.2 NP_001008213.1 3


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 © 2017-2024. 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.