FPGS, folylpolyglutamate synthase, 2356

N. diseases: 40; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 AlteredExpression disease BEFREE The mRNA expression levels of RFC1, MS, MTRR, MTHFR and ABCB1 were decreased (P<0.05), while those of GGH, FPGS, TS and MTHFD1 (P<0.05) were overexpressed in patients with AL. 31452789 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 Biomarker disease BEFREE This system is analogous to folylpolyglutamate synthase, which introduces more than one glutamate residue into folate only after this vitamin is reduced to tetrahydrofolate.<b>IMPORTANCE</b> Coenzyme F<sub>420</sub>-dependent reactions of <i>Mycobacterium tuberculosis</i>, which causes tuberculosis, potentially contributes to the virulence of this bacterium. 30249701 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE The current review highlights the crucial role that FPGS plays in maintenance of folate homeostasis under physiological conditions and delineates the plethora of the molecular mechanisms underlying loss of FPGS function and consequent antifolate resistance in cancer. 27620954 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE We first examined FPGS protein expressions according to FPGS SNPs genotype groups in 15 lung adenocarcinoma cell lines. 27987582 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE The current review highlights the crucial role that FPGS plays in maintenance of folate homeostasis under physiological conditions and delineates the plethora of the molecular mechanisms underlying loss of FPGS function and consequent antifolate resistance in cancer. 27620954 2016
CUI: C2063389
Disease: Retroperitoneal liposarcoma
Retroperitoneal liposarcoma 		0.010 GeneticVariation disease BEFREE Our data suggest that FPGS variant in Chinese population may affect individual susceptibility to primary retroperitoneal liposarcoma. 25765001 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.010 Biomarker disease BEFREE We therefore propose FPGS gene as a novel causative gene for cleft lip. 21093159 2011
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		0.010 GeneticVariation disease BEFREE A normal FPGS gene plays an essential role in intracellular folate homeostasis and metabolism, while a variant FPGS gene would lead to folate disturbances or even folate deficiency. 21093159 2011
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 Biomarker phenotype BEFREE We therefore propose FPGS gene as a novel causative gene for cleft lip. 21093159 2011
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 GeneticVariation disease BEFREE Liver metastases (n = 93) along with primary tumors (n = 48) were analyzed for K-Ras mutations (codons 12 and 13), p53 mutations (exons 4-9), p53 polymorphism (codon 72), thymidylate synthase (TS) polymorphism (28-bp repeats including G>C mutation), methylenetetrahydrofolate reductase polymorphism (677C>T, 1298A>C), thymidylate synthase (TS) activity, dihydropyrimidine dehydrogenase activity, folylpolyglutamate synthase activity, and p53 protein expression. 18676755 2008
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		0.010 AlteredExpression disease BEFREE Analysis of folylpoly-gamma-glutamate synthetase gene expression in human B-precursor ALL and T-lineage ALL cells. 16707018 2006
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE Our results suggest that normal-appearing colonic mucosa adjacent to primary colon cancer can show altered gene expression levels of FPGS that may have bearing on the development of aggressive metastatic behavior of the tumor and on tumor-specific survival. 14676127 2003
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE Our results suggest that normal-appearing colonic mucosa adjacent to primary colon cancer can show altered gene expression levels of FPGS that may have bearing on the development of aggressive metastatic behavior of the tumor and on tumor-specific survival. 14676127 2003
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE FPGS gene delivery enhances the antifolate sensitivity of several glioma cell lines and merits further evaluation as a therapeutic strategy. 10413425 1999
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 Biomarker disease BEFREE Collectively, our study has established the de novo MTX-resistant cell line SF-86 and identified SKA1 as a novel regulator of FPGS, playing a key role in the development of de novo MTX-resistance in OS. 30851225 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 Biomarker disease BEFREE Collectively, our study has established the de novo MTX-resistant cell line SF-86 and identified SKA1 as a novel regulator of FPGS, playing a key role in the development of de novo MTX-resistance in OS. 30851225 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 Biomarker disease BEFREE Collectively, our study has established the de novo MTX-resistant cell line SF-86 and identified SKA1 as a novel regulator of FPGS, playing a key role in the development of de novo MTX-resistance in OS. 30851225 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 AlteredExpression disease BEFREE We tested the expression of FPGS and enhanced green fluorescent protein (EGFP) after lentiviral transduction in various osteosarcoma cell lines (human MG-63 cells and TM 791 cells; rat osteosarcoma (ROS) 17/2.8 cells) and non-osteogenic tumor cell lines (293T human embryonic kidney cells, HeLa human cervix carcinoma cells). 23949282 2013
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 AlteredExpression disease BEFREE We tested the expression of FPGS and enhanced green fluorescent protein (EGFP) after lentiviral transduction in various osteosarcoma cell lines (human MG-63 cells and TM 791 cells; rat osteosarcoma (ROS) 17/2.8 cells) and non-osteogenic tumor cell lines (293T human embryonic kidney cells, HeLa human cervix carcinoma cells). 23949282 2013
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 AlteredExpression disease BEFREE We tested the expression of FPGS and enhanced green fluorescent protein (EGFP) after lentiviral transduction in various osteosarcoma cell lines (human MG-63 cells and TM 791 cells; rat osteosarcoma (ROS) 17/2.8 cells) and non-osteogenic tumor cell lines (293T human embryonic kidney cells, HeLa human cervix carcinoma cells). 23949282 2013
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 Biomarker disease BEFREE In this study, primary tumors obtained from 1,129 patients with colorectal cancer were used to measure the mRNA expression levels of the following genes associated with the effects of standard chemotherapy for colorectal cancer: 5-fluorouracil (5-FU)-related thymidylate synthase (TYMS), dihydropyrimidine dehydrogenase (DPYD) and thymidine phosphorylase (TYMP); folate-related dihydrofolate reductase (DHFR), folylpolyglutamate synthase (FPGS) and gamma-glutamyl hydrolase (GGH); irinotecan-related topoisomerase I (TOP1); oxaliplatin-related excision repair cross-complementing 1 (ERCC1); biologic agent-related vascular endothelial growth factor (VEGF) and epidermal growth factor receptor (EGFR). 26676887 2016
CUI: C0023418
Disease: leukemia
leukemia 		0.030 GeneticVariation disease BEFREE We demonstrate that antifolate resistant leukemia cells harbor a heterozygous point mutation in exon12 of FPGS which disrupts FPGS activity by abolishing ATP binding, and alters the binding pattern of transcription factors to the genomic region of exon12. 25229333 2014
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 GeneticVariation disease BEFREE We demonstrate that antifolate resistant leukemia cells harbor a heterozygous point mutation in exon12 of FPGS which disrupts FPGS activity by abolishing ATP binding, and alters the binding pattern of transcription factors to the genomic region of exon12. 25229333 2014
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 Biomarker disease BEFREE In conclusion, we found no significant evidence that genetic variants in FOLR1, GGH, FPGS and SLC19A1 are associated with the risk of colorectal cancer. 20037791 2010
CUI: C0023418
Disease: leukemia
leukemia 		0.030 AlteredExpression disease BEFREE Loss of folylpoly-gamma-glutamate synthetase activity is a dominant mechanism of resistance to polyglutamylation-dependent novel antifolates in multiple human leukemia sublines. 12494465 2003