TK2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol TK2
Gene name thymidine kinase 2, mitochondrial
Chromosome 16
Chromosomal band q22-q23.1
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_001172643.1, NM_001172644.1, NM_001172645.1, NM_004614.4
Associated with diseases 617069, MTDPS2
Citation reference(s) -
Curators (0) -
Total number of public variants reported 125
Unique public DNA variants reported 90
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 11831
Entrez Gene 7084
PubMed articles TK2
OMIM - Gene 188250
OMIM - Diseases 617069 (?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3))
MTDPS2 (Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3))
HGMD TK2
GeneCards TK2
GeneTests TK2


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000331 16 transcript variant 1 NM_004614.4 NP_004605.4 125
00000329 16 transcript variant 3 NM_001172644.1 NP_001166115.1 119
00000330 16 transcript variant 4 NM_001172645.1 NP_001166116.1 119
00000332 16 transcript variant 2 NM_001172643.1 NP_001166114.1 119


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

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