The C10orf2 gene homepage

NOTE: gene name changed from C10orf2 to TWNK
General information
Gene symbol C10orf2
Gene name chromosome 10 open reading frame 2
Chromosome 10
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000010.10
Transcript reference NM_021830.4
Exon/intron information NM_021830.4 exon/intron table
Associated with diseases ID, MTDPS7, PEOA3, PRLTS5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 72
Unique public DNA variants reported 62
Individuals with public variants 83
Hidden variants 7
Download all this gene's data Download all data
Notes NOTE: gene name changed from C10orf2 to TWNK
So far mainly variants associated with MTDPS7 (IOSCA) are shown.
We gratefully acknowledge Anne Polvi and Juha Muilu for their help with establishing this database as well as acting as a curator until end 2015. In addition we thank Tuula Lönnqvist for database curation until end 2019.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created August 30, 2012
Date last updated May 09, 2022
Version C10orf2:220509

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_021830.4.
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 Finnish Disease Database (FinDis)
HGNC 1160
Entrez Gene 56652
PubMed articles C10orf2
OMIM - Gene 606075
OMIM - Diseases MTDPS7 (mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7))
PEOA3 (ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3))
PRLTS5 (Perrault syndrome, type 5 (PRLTS5))
HGMD C10orf2
GeneCards C10orf2
GeneTests C10orf2
Orphanet C10orf2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000279 10 transcript variant 1 NM_021830.4 NP_068602.2 72

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 © 2012-2022. 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.