FOLR3 (folate receptor gamma)

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Gene Gene information from NCBI Gene database.
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Entrez ID 2352
Gene name Folate receptor gamma
Gene symbol FOLR3
Synonyms (NCBI Gene)
FR-GFR-gammaFRgammagamma-hFR
Chromosome 11
Chromosome location 11q13.4
Summary This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15 Show/Hide all (15)
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005542 Function Folic acid binding IEA
GO:0005542 Function Folic acid binding TAS 8110752
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
602469 3795 ENSG00000110203
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41439
Protein name Folate receptor gamma (FR-gamma) (Folate receptor 3)
Protein function Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03024 Folate_rec 36 → 211 Folate receptor family Domain
Tissue specificity TISSUE SPECIFICITY: Spleen, thymus, bone marrow, ovarian carcinoma, and uterine carcinoma.
Sequence 
MDMAWQMMQLLLLALVTAAGSAQPRSARARTDLLNVCMNAKHHKTQPSPEDELYGQCSPW
KKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPTCKRHFIQDSCLYECSPNLGPWIRQV
NQSWRKERILNVPLCKEDCERWWEDCRTSYTCKSNWHKGWNWTSGINECPAGALCSTFES
YFPTPAALCEGLWSHSFKVSNYSRGSGRCIQMWFDSAQGNPNEEVAKFYAAAMNAGAPSR
GIIDS
Sequence length 245
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Antifolate resistance Neutrophil degranulation
Endocytosis  
Folate transport and metabolism  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
FOLR3-related disorder Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (14)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atherosclerosis Atherosclerosis Pubtator 22363809 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19454358
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 38273401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 19454358
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 36733386 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 36361563 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hearing Loss Hearing loss Pubtator 34758154 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant mesothelioma Malignant Mesothelioma BEFREE 19454358
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 19454358
★★★★★
★☆☆☆☆
Found in Text Mining only
Meningomyelocele Meningomyelocele BEFREE 20683905
★★★★★
★☆☆☆☆
Found in Text Mining only
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FOLR2 3 shared pathwaysAntifolate resistance, Endocytosis, Folate transport and metabolism Related via 3 shared pathways including Antifolate resistance, Endocytosis. FOLR1 3 shared pathwaysAntifolate resistance, Endocytosis, Folate transport and metabolism Related via 3 shared pathways including Antifolate resistance, Endocytosis. MTHFR 2 shared pathwaysAntifolate resistance, Folate transport and metabolism Related via 2 shared pathways including Antifolate resistance, Folate transport and metabolism. SLC19A1 2 shared pathwaysAntifolate resistance, Folate transport and metabolism Related via 2 shared pathways including Antifolate resistance, Folate transport and metabolism. ABCC5 2 shared pathwaysAntifolate resistance, Folate transport and metabolism Related via 2 shared pathways including Antifolate resistance, Folate transport and metabolism.
Autism Linked via 3 of 5 related genesFOLR2, MTHFR, SLC19A1 Neural tube defect Linked via 3 of 5 related genesFOLR2, FOLR1, MTHFR Neural tube defects, x-linked Linked via 3 of 5 related genesFOLR2, FOLR1, MTHFR Colonic neoplasms Linked via 3 of 5 related genesFOLR1, MTHFR, SLC19A1 Colorectal neoplasms Linked via 3 of 5 related genesMTHFR, SLC19A1, ABCC5