FPGS (folylpolyglutamate synthase)

2007-02-01  

Identity

HGNC
FPGS
LOCATION
9q34.11
LOCUSID
2356
ALIAS
-
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD19902562
PA450428methotrexateChemicalClinicalAnnotationassociatedPD19902562
PA451906warfarinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
374526212023Effects of single nucleotide polymorphisms of the folylpolyglutamate synthase gene on pemetrexed administration-induced nephropathy.0
374526212023Effects of single nucleotide polymorphisms of the folylpolyglutamate synthase gene on pemetrexed administration-induced nephropathy.0
329406992021Association of altered folylpolyglutamate synthetase pre-mRNA splicing with methotrexate unresponsiveness in early rheumatoid arthritis.8
343315612021Influence of FPGS, ABCC4, SLC29A1, and MTHFR genes on the pharmacogenomics of fluoropyrimidines in patients with gastrointestinal cancer from the Brazilian Amazon.3
329406992021Association of altered folylpolyglutamate synthetase pre-mRNA splicing with methotrexate unresponsiveness in early rheumatoid arthritis.8
343315612021Influence of FPGS, ABCC4, SLC29A1, and MTHFR genes on the pharmacogenomics of fluoropyrimidines in patients with gastrointestinal cancer from the Brazilian Amazon.3
323918842020Effects of germline DHFR and FPGS variants on methotrexate metabolism and relapse of leukemia.3
324815052020Association of NUDT15*3 and FPGS 2572C>T Variants with the Risk of Early Hematologic Toxicity During 6-MP and Low-Dose Methotrexate-Based Maintenance Therapy in Indian Patients with Acute Lymphoblastic Leukemia.7
326946222020FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia.6
323918842020Effects of germline DHFR and FPGS variants on methotrexate metabolism and relapse of leukemia.3
324815052020Association of NUDT15*3 and FPGS 2572C>T Variants with the Risk of Early Hematologic Toxicity During 6-MP and Low-Dose Methotrexate-Based Maintenance Therapy in Indian Patients with Acute Lymphoblastic Leukemia.7
326946222020FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia.6
308512252019SKA1 induces de novo MTX-resistance in osteosarcoma through inhibiting FPGS transcription.5
308512252019SKA1 induces de novo MTX-resistance in osteosarcoma through inhibiting FPGS transcription.5
300223682018Do SNPs in folate pharmacokinetic pathway alter levels of intracellular methotrexate polyglutamates and affect response? A prospective study in Indian patients.2

Citation

Dessen P

FPGS (folylpolyglutamate synthase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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