FOLR3 (folate receptor gamma)

2018-07-01  

Identity

HGNC
FOLR3
LOCATION
11q13.4
LOCUSID
2352
ALIAS
FR-G,FR-gamma,FRgamma,gamma-hFR

Other Information

Locus ID:

NCBI: 2352
MIM: 602469
HGNC: 3795
Ensembl: ENSG00000110203

Variants:

dbSNP: 2352
ClinVar: 2352
TCGA: ENSG00000110203
COSMIC: FOLR3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110203ENST00000442948A0A452Q700
ENSG00000110203ENST00000546166F5H2G8
ENSG00000110203ENST00000611028P41439
ENSG00000110203ENST00000612844P41439
ENSG00000110203ENST00000622388A0A087WYI3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523
Neutrophil degranulationREACTOMER-HSA-6798695

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10810pemetrexedChemicalClinicalAnnotationassociatedPD24732178
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD24732178
PA444937MesotheliomaDiseaseClinicalAnnotationassociatedPD24732178

References

Pubmed IDYearTitleCitations
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
190486312009Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.20
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
206839052010Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.16
206839052010Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.16
289486922017Mutations in folate transporter genes and risk for human myelomeningocele.3

Citation

Dessen P

FOLR3 (folate receptor gamma)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57515/folr3