DGUOK gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol DGUOK
Gene name deoxyguanosine kinase
Chromosome 2
Chromosomal band p13
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_080916.1, NM_080916.2, NM_080918.1
Associated with diseases 617070, MTDPS3
Citation reference(s) -
Curators (0) -
Total number of public variants reported 46
Unique public DNA variants reported 41
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
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 2858
Entrez Gene 1716
PubMed articles DGUOK
OMIM - Gene 601465
OMIM - Diseases 617070 (Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3))
MTDPS3 (Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3))
GeneCards DGUOK
GeneTests DGUOK

Active transcripts




NCBI ID     

NCBI Protein ID     

00000092 2 transcript variant 1 NM_080916.1 NP_550438.1 46
00000093 2 transcript variant 2 NM_080918.1 NP_550440.1 46
00003342 2 transcript variant 1 NM_080916.2 NP_550438.1 46

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium