C10orf2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
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_001163812.1, NM_001163813.1, NM_001163814.1, NM_021830.4, XR_246100.1
Associated with diseases MTDPS3, MTDPS7, PEOA3, SANDO
Citation reference(s) -
Curators (0) -
Total number of public variants reported 50
Unique public DNA variants reported 32
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013

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 1160
Entrez Gene 56652
PubMed articles C10orf2
OMIM - Gene 606075
OMIM - Diseases MTDPS3 (Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3))
MTDPS7 (Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3))
PEOA3 (PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3)
SANDO (Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3))
HGMD C10orf2
GeneCards C10orf2
GeneTests C10orf2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000057 10 transcript variant 2 NM_001163812.1 NP_001157284.1 50
00000058 10 transcript variant 1 NM_021830.4 NP_068602.2 50
00000059 10 transcript variant 4 NM_001163814.1 NP_001157286.1 50
00000060 10 transcript variant 3 NM_001163813.1 NP_001157285.1 50
00000061 10 transcript variant X1 XR_246100.1 - 50


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium