TK2 gene homepage

General information
Gene symbol TK2
Gene name thymidine kinase 2, mitochondrial
Chromosome 16
Chromosomal band q22-q23.1
Imprinted Unknown
Genomic reference NG_016862.1
Transcript reference NM_001172643.1, NM_001172644.1, NM_004614.4
Exon/intron information NM_001172643.1 exon/intron table, NM_004614.4 exon/intron table
Associated with diseases MTDPS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 19
Unique public DNA variants reported 18
Individuals with public variants 7
Hidden variants 3
Date created May 03, 2013
Date last updated July 09, 2020
Version TK2:200709

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_001172643.1, NM_004614.4.
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
HGNC 11831
Entrez Gene 7084
PubMed articles TK2
OMIM - Gene 188250
OMIM - Diseases MTDPS-2 (mitochondrial DNA depletion syndrome, type 2 (MTDPS-2, myopathic type))

Active transcripts




NCBI ID     

NCBI Protein ID     

00023861 16 transcript variant 1 NM_004614.4 NP_004605.4 18
00021167 16 transcript variant 2 NM_001172643.1 NP_001166114.1 12
00023839 16 transcript variant 3 NM_001172644.1 NP_001166115.1 12

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