Thymidine kinase 2, mitochondrial

Last updated
TK2
Identifiers
Aliases TK2 , MTDPS2, MTTK, SCA31, thymidine kinase 2, mitochondrial, PEOB3, thymidine kinase 2
External IDs OMIM: 188250 MGI: 1913266 HomoloGene: 3392 GeneCards: TK2
Gene location (Human)
Ideogram human chromosome 16.svg
Chr. Chromosome 16 (human) [1]
Human chromosome 16 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 16q21Start66,508,003 bp [1]
End66,552,544 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021028

RefSeq (protein)

n/a

Location (UCSC) Chr 16: 66.51 – 66.55 Mb Chr 8: 104.23 – 104.25 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Thymidine kinase 2, mitochondrial is a protein that in humans is encoded by the TK2 gene. [5]

Function

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.

This kinase is not present in yeast. [6]

Related Research Articles

CKMT2 protein-coding gene in the species Homo sapiens

Creatine kinase S-type, mitochondrial is an enzyme that in humans is encoded by the CKMT2 gene.

DGUOK protein-coding gene in the species Homo sapiens

Deoxyguanosine kinase, mitochondrial is an enzyme that in humans is encoded by the DGUOK gene.

AK2 mammalian protein found in Homo sapiens

Adenylate kinase 2 is an enzyme that is encoded in humans by the AK2 gene. The AK2 protein is found in the intermembrane space of the mitochondrion.

NFS1 protein-coding gene in the species Homo sapiens

Cysteine desulfurase, mitochondrial is an enzyme that in humans is encoded by the NFS1 gene.

SH3BP5 protein-coding gene in the species Homo sapiens

SH3 domain-binding protein 5 is a protein that in humans is encoded by the SH3BP5 gene.

DTYMK protein-coding gene in the species Homo sapiens

Thymidylate kinase also known as deoxythymidylate kinase or dTMP kinase is an enzyme that in humans is encoded by the DTYMK gene. and belongs to thymidylate kinase family of proteins.

TIMM44 protein-coding gene in the species Homo sapiens

Mitochondrial import inner membrane translocase subunit TIM44 is an enzyme that in humans is encoded by the TIMM44 gene.

AK3L1 protein-coding gene in the species Homo sapiens

Adenylate kinase isoenzyme 4, mitochondrial is an enzyme that in humans is encoded by the AK4 gene.

MRPS16 protein-coding gene in the species Homo sapiens

28S ribosomal protein S16, mitochondrial is a protein that in humans is encoded by the MRPS16 gene.

UBL5 protein-coding gene in the species Homo sapiens

Ubiquitin-like protein 5 is a protein that in humans is encoded by the UBL5 gene.

TIMM17A protein-coding gene in the species Homo sapiens

Mitochondrial import inner membrane translocase subunit Tim17-A is an enzyme that in humans is encoded by the TIMM17A gene.

TIMM9 protein-coding gene in the species Homo sapiens

Mitochondrial import inner membrane translocase subunit Tim9 is an enzyme that in humans is encoded by the TIMM9 gene.

TIMM22 protein-coding gene in the species Homo sapiens

Mitochondrial import inner membrane translocase subunit Tim22 is an enzyme that in humans is encoded by the TIMM22 gene.

ATPAF1 protein-coding gene in the species Homo sapiens

ATP synthase mitochondrial F1 complex assembly factor 1, also known as ATP11 homolog, is a protein that in humans is encoded by the ATPAF1 gene.

SLC25A16 protein-coding gene in the species Homo sapiens

Solute carrier family 25, member 16 is a protein in humans that is encoded by the SLC25A16 gene.

FASTKD5 protein-coding gene in the species Homo sapiens

FAST kinase domain-containing protein 5 (FASTKD5) is a protein that in humans is encoded by the FASTKD5 gene on chromosome 20. This protein is part of the FASTKD family, which is known for regulating the energy balance of mitochondria under stress. FASTKD5 is also required for RNA granules to process precursor mRNAs not flanked by tRNAs.

NT5M protein-coding gene in the species Homo sapiens

5',3'-nucleotidase, mitochondrial, also known as 5'(3')-deoxyribonucleotidase, mitochondrial (mdN) or deoxy-5'-nucleotidase 2 (dNT-2), is an enzyme that in humans is encoded by the NT5M gene. This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith–Magenis syndrome region on chromosome 17.

MTHFD2L protein-coding gene in the species Homo sapiens

NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein (MTHFD2L), also known as bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, is an enzyme that in humans is encoded by the MTHFD2L gene on chromosome 4. This enzyme localizes to the inner mitochondrial membrane, where it performs the NADP+-dependent dehydrogenase/cyclohydrolase activity as part of the mitochondrial pathway to convert folate to formate. It is associated with fluctuations in cytokine secretion in response to viral infections and vaccines.

AK3 protein-coding gene in the species Homo sapiens

Adenylate kinase 3 is a protein that in humans is encoded by the AK3 gene.

Carbonic anhydrase 5A, mitochondrial protein-coding gene in the species Homo sapiens

Carbonic anhydrase 5A, mitochondrial is a protein that in humans is encoded by the CA5A gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000166548 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035824 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Thymidine kinase 2, mitochondrial".
  6. Zeman L, Lusena CV (March 1974). "DNA precursors and the absence of thymidine kinase in yeast mitochondria". FEBS Letters. 40 (1): 84–7. doi:10.1016/0014-5793(74)80899-9. PMID   4604357. S2CID   40059011.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.