Property Summary

NCBI Gene PubMed Count 38
Grant Count 66
R01 Count 61
Funding $6,121,652.92
PubMed Score 78.35
PubTator Score 64.14

Knowledge Summary

Patent (6,384)

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma 1.100 0.000
tuberculosis and treatment for 6 months -1.200 0.001
lung cancer 1.400 0.006
ovarian cancer 1.200 0.000

Synonym

Accession Q16854 P78532 Q16759 Q4ZG09 Q7L1W9 Q96BC1 dGK
Symbols dGK
NCPH
PEOB4
MTDPS3

Gene

PANTHER Protein Class (3)

PDB

2OCP  

Gene RIF (18)

PMID Text
27324545 sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene
24940680 thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells
23043144 study expands the spectrum of disorders caused by mutations in DGUOK.
21107780 Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19900589 c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency
19502998 a viral infection can trigger fulminant liver failure in the context of a genetic predisposition associated with mutations in DGUOK
19394258 study reports the first founder DGUOK mutation (c.444-62C>A) in two North-African families with hepatocerebral syndrome and severe combined respiratory chain deficiency
18600530 dCK and dGK were downregulated by approximately 70% in CEM cells and tested against six nucleoside
18205204 15 different mutations in the DGUOK gene from 9 kindreds, were identified.
More...

AA Sequence

MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATE      1 - 70
PVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIF     71 - 140
ERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREE    141 - 210
EKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL       211 - 277
//

Text Mined References (39)

PMID Year Title
27324545 2016 [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
24940680 2014 Mitochondrial thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells.
23273568 2013 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
23043144 2012 Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21546767 2011 Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
21107780 2011 Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
More...