DTYMK Gene

Name	deoxythymidylate kinase (thymidylate kinase)
Description	Enables ATP binding activity and thymidylate kinase activity. Involved in dTDP biosynthetic process and thymidine biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Deoxythymidylate kinase (DTYMK), also known as thymidylate kinase, is a critical enzyme in the deoxythymidine triphosphate (dTTP) biosynthetic pathway. By catalyzing the conversion of deoxythymidine monophosphate (dTMP) to dTDP, DTYMK ensures an adequate dTTP pool necessary for faithful DNA replication and repair. Loss‐of‐function studies in patient‐derived cells and animal models have shown that DTYMK deficiency impairs DNA synthesis, increases aberrant ribonucleotide incorporation, and compromises the DNA damage response, ultimately leading to genome instability and severe neurodevelopmental defects such as microcephaly and neuronal cell loss."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In contrast, DTYMK overexpression has been linked to oncogenic processes. For instance, elevated DTYMK expression is a component of prognostic gene signatures in hepatocellular carcinoma, suggesting that increased nucleotide synthesis via DTYMK may support the rapid proliferation and genomic demands of tumor cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Furthermore, asymmetric DTYMK mRNA expression observed in post‐mortem brain tissues implicates a potential role in neural development and brain lateralization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " In summary, DTYMK is indispensable for maintaining dTTP homeostasis and genome integrity—its deficiency results in severe neurodegenerative phenotypes, whereas its upregulation may facilitate malignant progression by sustaining the nucleotide demands of rapidly dividing cells.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ching-Wan Lam, Wai-Lan Yeung, Tsz-Ki Ling, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Chim Acta (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cca.2019.06.028"}], "href": "https://doi.org/10.1016/j.cca.2019.06.028"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31271740"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31271740"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DTYMK is essential for genome integrity and neuronal survival."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neuropathol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00401-021-02394-0"}], "href": "https://doi.org/10.1007/s00401-021-02394-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34918187"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34918187"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Junmei Hu Frisk, Jo M Vanoevelen, Jörgen Bierau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "ACS Omega (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/acsomega.1c05288"}], "href": "https://doi.org/10.1021/acsomega.1c05288"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34926941"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34926941"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Guifang He, Jing Qiu, Changchang Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-148b-3p Regulates the Expression of DTYMK to Drive Hepatocellular Carcinoma Cell Proliferation and Metastasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Oncol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fonc.2021.625566"}], "href": "https://doi.org/10.3389/fonc.2021.625566"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35004265"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35004265"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Dengchuan Wang, Jun Liu, Shengshuo Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Crucial Genes Associated With Immune Cell Infiltration in Hepatocellular Carcinoma by Weighted Gene Co-expression Network Analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fgene.2020.00342"}], "href": "https://doi.org/10.3389/fgene.2020.00342"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32391055"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32391055"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Amaia Carrion-Castillo, Antonietta Pepe, Xiang-Zhen Kong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cortex (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cortex.2019.11.006"}], "href": "https://doi.org/10.1016/j.cortex.2019.11.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31887566"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31887566"}]}]}]}
Synonyms	CDC8, TMPK, TYMK, PP3731
Proteins	KTHY_HUMAN
NCBI Gene ID	1841
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DTYMK has 8,269 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 110 datasets.

Click the + buttons to view associations for DTYMK from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

DTYMK Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DTYMK gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of DTYMK gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of DTYMK gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DTYMK gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of DTYMK gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DTYMK gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DTYMK gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of DTYMK gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of DTYMK gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with DTYMK protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with DTYMK gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DTYMK gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of DTYMK gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of DTYMK gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of DTYMK gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing DTYMK protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing DTYMK protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing DTYMK protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with DTYMK protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with DTYMK protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with DTYMK gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with DTYMK gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with DTYMK gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving DTYMK gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with DTYMK gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with DTYMK gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with DTYMK gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with DTYMK gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with DTYMK gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for DTYMK protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at DTYMK gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DTYMK gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of DTYMK gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing DTYMK from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with DTYMK gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing DTYMK from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of DTYMK gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of DTYMK gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of DTYMK gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of DTYMK gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.