The OTOF gene homepage

This database is one of the ”Retinal and hearing impairment genetic variant databases”.
General information
Gene symbol OTOF
Gene name otoferlin
Chromosome 2
Chromosomal band p23.1
Imprinted Unknown
Genomic reference NG_009937.1
Transcript reference NM_194248.2
Exon/intron information NM_194248.2 exon/intron table
Associated with diseases DFN, DFNB, DFNB9
Citation reference(s) PubMed: Besnard, Garcia-Garcia 2014
Refseq URL Genomic reference sequence
Curators (1) David Baux
Total number of public variants reported 389
Unique public DNA variants reported 339
Individuals with public variants 511
Hidden variants 15
Download all this gene's data Download all data
Notes The database is curated by the Montpellier Usher group.
You can directly access the OTOF database using:
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 05, 2012
Date last updated January 11, 2023
Version OTOF: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_194248.2.
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
External URL Deafness Gene Mutation Database
Deafness Variation Database
HGNC 8515
Entrez Gene 9381
PubMed articles OTOF
OMIM - Gene 603681
OMIM - Diseases DFNB9 (deafness, autosomal recessive, type 9 (DFNB-9))
GeneCards OTOF
GeneTests OTOF
Orphanet OTOF

Active transcripts




NCBI ID     

NCBI Protein ID     

00024110 2 transcript variant 1 NM_194248.2 NP_919224.1 389

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 © 2012-2023. 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.