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, MTDPS-7, PEOA-3, PRLTS5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 70
Unique public DNA variants reported 60
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 October 31, 2021
Version C10orf2:211031

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 https://www.LOVD.nl/C10orf2
External URL Finnish Disease Database (FinDis)
HGNC 1160
Entrez Gene 56652
PubMed articles C10orf2
OMIM - Gene 606075
OMIM - Diseases MTDPS-7 (mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7))
PEOA-3 (ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3))
PRLTS5 (syndrome, Perrault, type 5 (PRLTS5))
HGMD C10orf2
GeneCards C10orf2
GeneTests C10orf2
Orphanet C10orf2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000279 10 transcript variant 1 NM_021830.4 NP_068602.2 70


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