FPGS (folylpolyglutamate synthase)

2007-02-01  

Identity

HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 2356
MIM: 136510
HGNC: 3824
Ensembl: ENSG00000136877

Variants:

dbSNP: 2356
ClinVar: 2356
TCGA: ENSG00000136877
COSMIC: FPGS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136877ENST00000373225Q05932
ENSG00000136877ENST00000373228Q5JU23
ENSG00000136877ENST00000373247Q05932
ENSG00000136877ENST00000393706Q05932
ENSG00000136877ENST00000423577Q5JU21
ENSG00000136877ENST00000431857Q5JU20
ENSG00000136877ENST00000630236Q5JU23

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Folate biosynthesisKEGGko00790
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD19902562
PA450428methotrexateChemicalClinicalAnnotationassociatedPD19902562
PA451906warfarinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
171191162007Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.32
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
198413212010Phase II trial of pemetrexed plus bevacizumab for second-line therapy of patients with advanced non-small-cell lung cancer: NCCTG and SWOG study N0426.25
183817942008Methotrexate (MTX) pathway gene polymorphisms and their effects on MTX toxicity in Caucasian and African American patients with rheumatoid arthritis.24
188428062008Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.24
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
178915002007One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia.20
146761272003Altered gene expression of folate enzymes in adjacent mucosa is associated with outcome of colorectal cancer patients.19
191315502009Aberrant splicing of folylpolyglutamate synthetase as a novel mechanism of antifolate resistance in leukemia.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

FPGS (folylpolyglutamate synthase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45986/fpgs