Protein-coding gene in the species Homo sapiens
TK2 |
---|
|
Identifiers |
---|
Aliases | TK2, MTDPS2, MTTK, SCA31, thymidine kinase 2, mitochondrial, PEOB3, thymidine kinase 2, TK2-EXT |
---|
External IDs | OMIM: 188250; MGI: 1913266; HomoloGene: 3392; GeneCards: TK2; OMA:TK2 - orthologs |
---|
Gene location (Human) |
---|
![Chromosome 16 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Ideogram_human_chromosome_16.svg/300px-Ideogram_human_chromosome_16.svg.png) | Chr. | Chromosome 16 (human)[1] |
---|
| Band | 16q21 | Start | 66,508,003 bp[1] |
---|
End | 66,552,544 bp[1] |
---|
|
Gene location (Mouse) |
---|
![Chromosome 8 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/1/1f/Ideogram_house_mouse_chromosome_8.svg/260px-Ideogram_house_mouse_chromosome_8.svg.png) | Chr. | Chromosome 8 (mouse)[2] |
---|
| Band | 8|8 D3 | Start | 104,953,317 bp[2] |
---|
End | 104,975,190 bp[2] |
---|
|
RNA expression pattern |
---|
Bgee | Human | Mouse (ortholog) |
---|
Top expressed in | - Achilles tendon
- sural nerve
- monocyte
- epithelium of colon
- left testis
- right testis
- adipose tissue
- right adrenal gland
- subcutaneous adipose tissue
- stromal cell of endometrium
|
| Top expressed in | - granulocyte
- superior surface of tongue
- gallbladder
- stroma of bone marrow
- adrenal gland
- transitional epithelium of urinary bladder
- spleen
- neural layer of retina
- superior frontal gyrus
- spermatocyte
|
| More reference expression data |
|
---|
BioGPS | |
---|
|
Gene ontology |
---|
Molecular function | - transferase activity
- nucleotide binding
- deoxycytidine kinase activity
- ATP binding
- kinase activity
- nucleoside kinase activity
- thymidine kinase
- deoxynucleoside kinase activity
- thymidine kinase activity
| Cellular component | - mitochondrial matrix
- mitochondrion
- cytoplasm
| Biological process | - pyrimidine nucleoside salvage
- thymidine metabolic process
- deoxyribonucleoside monophosphate biosynthetic process
- nucleotide biosynthetic process
- DNA biosynthetic process
- nucleobase-containing compound metabolic process
- deoxycytidine metabolic process
- phosphorylation
| Sources:Amigo / QuickGO |
|
Orthologs |
---|
Species | Human | Mouse |
---|
Entrez | | |
---|
Ensembl | | |
---|
UniProt | | |
---|
RefSeq (mRNA) | NM_001172643 NM_001172644 NM_001172645 NM_001271934 NM_001271935
|
---|
NM_001272050 NM_004614 |
| |
---|
RefSeq (protein) | NP_001166114 NP_001166115 NP_001166116 NP_001258863 NP_001258864
|
---|
NP_001258979 NP_004605 |
| |
---|
Location (UCSC) | Chr 16: 66.51 – 66.55 Mb | Chr 8: 104.95 – 104.98 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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000166548 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035824 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Thymidine kinase 2, mitochondrial".
- ^ 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.