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
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))
GeneCards TK2
GeneTests TK2

Active transcripts




NCBI ID     

NCBI Protein ID     

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 ; NuclearMitome ; MitoPhenome ; MitoCarta

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium