Basic Information

Symbol
TK2
RNA class
mRNA
Alias
Thymidine Kinase 2 Thymidine Kinase 2, Mitochondrial SCA31 Mitochondrial Thymidine Kinase 2'-Deoxyuridine Kinase TK2 Deoxycytidine Kinase TK2 Mt-TK EC 2.7.1.21 EC 2.7.1.74 EC 2.7.1.- TK2-EXT MTDPS2 PEOB3 MTTK
Location (GRCh38)
16:66508003-66552544
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004614.5
Sequence length
4824.0 nt
GC content
0.5093

Transcripts

ID Sequence Length GC content
NM_001172643.1 NCBI
GCCAAGUUAUGGGUGCGUUCUGCCAGCGUCCUAGCAGUGAUAAAGAACA… 4678 nt 0.4994
NM_001172644.2 NCBI
AGUCGUCCGCGCCGACUCGCACAAGAAGGAACCCCGGGCCUCUGGAUCC… 4749 nt 0.5092
NM_001172645.2 NCBI
AGUCGUCCGCGCCGACUCGCACAAGAAGGAACCCCGGGCCUCUGGAUCC… 4770 nt 0.5090
NM_001271934.2 NCBI
AGUCGUCCGCGCCGACUCGCACAAGAAGGAACCCCGGGCCUCUGGAUCC… 4919 nt 0.5107
NM_001271935.1 NCBI
GCCAAGUUAUGGGUGCGUUCUGCCAGCGUCCUAGCAGUGAUAAAGAACA… 4528 nt 0.4987
NM_001272050.2 NCBI
AGUCGUCCGCGCCGACUCGCACAAGAAGGAACCCCGGGCCUCUGGAUCC… 5185 nt 0.5209
NM_004614.5 NCBI
AGUCGUCCGCGCCGACUCGCACAAGAAGGAACCCCGGGCCUCUGGAUCC… 4824 nt 0.5093
Summary

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]

Forensic Context

No relevant information is available at the moment.