Gene Gene information from NCBI Gene database.
Entrez ID 1841
Gene name Deoxythymidylate kinase
Gene symbol DTYMK
Synonyms (NCBI Gene)
CDC8CONPMPP3731TMPKTYMK
Chromosome 2
Chromosome location 2q37.3
miRNA miRNA information provided by mirtarbase database.
72
miRTarBase ID miRNA Experiments Reference
MIRT025515 hsa-miR-34a-5p Proteomics 21566225
MIRT025515 hsa-miR-34a-5p Proteomics 21566225
MIRT025515 hsa-miR-34a-5p Proteomics 21566225
MIRT025515 hsa-miR-34a-5p Proteomics 21566225
MIRT025947 hsa-miR-7-5p Microarray 19073608
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004550 Function Nucleoside diphosphate kinase activity IBA
GO:0004798 Function DTMP kinase activity IBA
GO:0004798 Function DTMP kinase activity IDA 8845311, 12614151
GO:0004798 Function DTMP kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188345 3061 ENSG00000168393
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23919
Protein name Thymidylate kinase (EC 2.7.4.9) (dTMP kinase)
Protein function Catalyzes the phosphorylation of thymidine monophosphate (dTMP) to thymidine diphosphate (dTDP), the immediate precursor for the DNA building block dTTP, with ATP as the preferred phosphoryl donor in the presence of Mg(2+). {ECO:0000269|PubMed:1
PDB 1E2D , 1E2E , 1E2F , 1E2G , 1E2Q , 1E98 , 1E99 , 1E9A , 1E9B , 1E9C , 1E9D , 1E9E , 1E9F , 1NMX , 1NMY , 1NMZ , 1NN0 , 1NN1 , 1NN3 , 1NN5 , 2XX3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02223 Thymidylate_kin 11 191 Thymidylate kinase Domain
Sequence
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
  Interconversion of nucleotide di- and triphosphates
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodegeneration, childhood-onset, with progressive microcephaly Pathogenic rs1005167119, rs887888951, rs373875797, rs1267106442 RCV002248378
RCV002248379
RCV002248380
RCV002248381
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 34369850 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34049287, 34369850, 37400785 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36170019 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 23715154
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 35603384 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 18413751
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms LHGDN 18413751
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 18413751 Associate
★☆☆☆☆
Found in Text Mining only
Duodenal Ulcer Duodenal Ulcer BEFREE 12918113
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32638267 Associate
★☆☆☆☆
Found in Text Mining only