{ "uniprot_canonical_ac": "P14207-1", "uniprot_ac": "P14207", "uniprot_id": "FOLR2_HUMAN", "mass": { "chemical_mass": 29280.0, "monoisotopic_mass": 29280.0 }, "refseq": { "ac": "NP_000794", "name": "folate receptor beta precursor", "summary": "The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" }, "gene_names": [ { "name": "FOLR2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14207", "id": "P14207" }, { "name": "BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA; FR-P3; FRbeta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794", "id": "NP_000794" }, { "name": "FOLR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794", "id": "NP_000794" } ], "protein_names": [ { "name": "Folate receptor beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14207" }, { "name": "FBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14207" }, { "name": "FR-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14207" }, { "name": "Folate receptor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14207" }, { "name": "Folate receptor, fetal/placental", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14207" }, { "name": "Placental folate-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14207" }, { "name": "folate receptor beta precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794", "id": "NP_000794" }, { "name": "folate-binding protein, fetal/placental; folate receptor 2 (fetal); folate receptor, fetal/placental; placental folate-binding protein; folate receptor alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794", "id": "NP_000794" } ], "function": [ { "annotation": "Association of periconceptional folate supplements and FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart disease in offspring: A hospital-based case-control study.', trans 'FOLR1FOLR2.", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" }, { "database": "PubMed", "id": "35545363", "url": "https://glygen.org/publication/PubMed/35545363" } ] }, { "annotation": "Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release.", "evidence": [ { "database": "UniProtKB", "id": "P14207", "url": "https://www.uniprot.org/uniprot/P14207#function" }, { "database": "PubMed", "id": "2605182", "url": "https://glygen.org/publication/PubMed/2605182" }, { "database": "PubMed", "id": "23934049", "url": "https://glygen.org/publication/PubMed/23934049" }, { "database": "PubMed", "id": "4066659", "url": "https://glygen.org/publication/PubMed/4066659" } ] }, { "annotation": "FOLR2+ Macrophages Are Associated with T-cell Infiltration and Improved Prognosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" }, { "database": "PubMed", "id": "35394484", "url": "https://glygen.org/publication/PubMed/35394484" } ] }, { "annotation": "Folate Receptor Expression by Human Monocyte-Derived Macrophage Subtypes and Effects of Corticosteroids.", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" }, { "database": "PubMed", "id": "35255727", "url": "https://glygen.org/publication/PubMed/35255727" } ] }, { "annotation": "MicroRNA-622 upregulates cell cycle process by targeting FOLR2 to promote CRC proliferation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" }, { "database": "PubMed", "id": "38166756", "url": "https://glygen.org/publication/PubMed/38166756" } ] }, { "annotation": "Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" }, { "database": "PubMed", "id": "37883728", "url": "https://glygen.org/publication/PubMed/37883728" } ] }, { "annotation": "The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs780974334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780974334" }, { "id": "rs780974334", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780974334" }, { "id": "rs780974334", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780974334#frequency_tab" }, { "id": "rs780974334", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780974334" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->KQS).", "chr_id": "11", "chr_pos": "72221181", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138451850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138451850" }, { "id": "rs138451850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138451850" }, { "id": "rs138451850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138451850#frequency_tab" }, { "id": "rs138451850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138451850" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 116, "end_pos": 116, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NPS).", "chr_id": "11", "chr_pos": "72221183", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs112879648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112879648" }, { "id": "rs112879648", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs112879648" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQC).", "chr_id": "11", "chr_pos": "72221185", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1190310691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190310691" }, { "id": "rs1190310691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1190310691" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQP).", "chr_id": "11", "chr_pos": "72221029", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753508025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753508025" }, { "id": "rs753508025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753508025" }, { "id": "rs753508025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753508025" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 188, "end_pos": 188, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "11", "chr_pos": "72221557", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289483327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289483327" }, { "id": "rs1289483327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289483327" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 195, "end_pos": 195, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->DYS).", "chr_id": "11", "chr_pos": "72221577", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1565375706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565375706" }, { "id": "rs1565375706", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565375706" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 195, "end_pos": 195, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->IYS).", "chr_id": "11", "chr_pos": "72221578", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757042833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757042833" }, { "id": "rs757042833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757042833" }, { "id": "rs757042833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757042833#frequency_tab" }, { "id": "rs757042833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757042833" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 197, "end_pos": 197, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYG).", "chr_id": "11", "chr_pos": "72221583", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766926768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766926768" }, { "id": "rs766926768", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766926768" }, { "id": "rs766926768", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766926768#frequency_tab" }, { "id": "rs766926768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766926768" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 23, "end_pos": 23, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DRT->NRT).", "chr_id": "11", "chr_pos": "72218651", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs151140212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151140212" }, { "id": "rs151140212", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151140212" }, { "id": "rs151140212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151140212#frequency_tab" }, { "id": "rs151140212", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151140212" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 31, "end_pos": 31, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVC->NVS).", "chr_id": "11", "chr_pos": "72218676", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201333565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201333565" }, { "id": "rs201333565", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201333565" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 63, "end_pos": 63, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "11", "chr_pos": "72220907", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S63", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "82.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P14207", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14207" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P14207", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14207" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P14207", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14207" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P14207", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14207" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14207", "url": "https://www.uniprot.org/uniprot/P14207" } ], "common_name": "Human" } ], "gene": [ { "name": "FOLR2", "url": "https://www.uniprot.org/uniprot/P14207", "locus": { "chromosome": "11", "start_pos": 72221950, "end_pos": 72216601, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000165457", "url": "https://www.ensembl.org/id/ENSG00000165457" } ] } } ], "crossref": [ { "id": "ENSG00000165457", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165457", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL5064", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5064", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "FOLR2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLR2", "database": "GeneCards", "categories": [ "Gene 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"https://www.ncbi.nlm.nih.gov/protein/NP_000794", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E7EU04", "url": "https://www.uniprot.org/uniprot/E7EU04", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EU04-1", "url": "https://www.uniprot.org/uniprot/E7EU04-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXV3", "url": "https://www.uniprot.org/uniprot/F5GXV3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXV3-1", "url": "https://www.uniprot.org/uniprot/F5GXV3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZ45", "url": "https://www.uniprot.org/uniprot/F5GZ45", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZ45-1", "url": "https://www.uniprot.org/uniprot/F5GZ45-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3Z4", "url": "https://www.uniprot.org/uniprot/F5H3Z4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3Z4-1", 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"url": "https://www.uniprot.org/uniprot/J3KR13-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14207", "url": "https://www.uniprot.org/uniprot/P14207", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14207-1", "url": "https://www.uniprot.org/uniprot/P14207-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRTFESYFPTPAALCEGLWSHSYKVSNYSRGSGRCIQMWFDSAQGNPNEEVARFYAAAMHVNAGEMLHGTGGLLLSLALMLQLWLLG", "length": 255, "header": "sp|P14207-1|FOLR2_HUMAN Isoform 1 of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=4 CANONICAL=P14207-1" }, "isoforms": [ { "isoform_ac": "E7EU04-1", "url": "", "sequence": { "sequence": "MLPAATEVQGQKDMVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRTFESYFPTPAALCEGLWSHSYKVSNYS", "length": 210, "header": "tr|E7EU04-1|FOLR2_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=2 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221585, "end_pos": 72216899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000321324.11", "url": "https://www.ensembl.org/id/ENST00000321324.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000321957.7", "url": "https://www.ensembl.org/id/ENSP00000321957.7" } ] } }, { "isoform_ac": "F5GXV3-1", "url": "", "sequence": { "sequence": "MVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSAALCEGLWSHS", "length": 169, "header": "tr|F5GXV3-1|F5GXV3_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=1 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221564, "end_pos": 72218585, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538353.1", "url": "https://www.ensembl.org/id/ENST00000538353.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440337.1", "url": "https://www.ensembl.org/id/ENSP00000440337.1" } ] } }, { "isoform_ac": "F5GZ45-1", "url": "", "sequence": { "sequence": "MLPAATEGQKDMVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALC", "length": 180, "header": "tr|F5GZ45-1|F5GZ45_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=8 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221501, "end_pos": 72216899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539412.5", "url": "https://www.ensembl.org/id/ENST00000539412.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441547.1", "url": "https://www.ensembl.org/id/ENSP00000441547.1" } ] } }, { "isoform_ac": "F5H3Z4-1", "url": "", "sequence": { "sequence": "MLPAATELRLQGQKDMVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRTFESYFPTPAALC", "length": 198, "header": "tr|F5H3Z4-1|FOLR2_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=1 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221543, "end_pos": 72216899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536778.5", "url": "https://www.ensembl.org/id/ENST00000536778.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438568.1", "url": "https://www.ensembl.org/id/ENSP00000438568.1" } ] } }, { "isoform_ac": "F5H4Z6-1", "url": "", "sequence": { "sequence": "MVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRT", "length": 171, "header": "tr|F5H4Z6-1|F5H4Z6_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=1 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221507, "end_pos": 72218585, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535625.5", "url": "https://www.ensembl.org/id/ENST00000535625.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444794.1", "url": "https://www.ensembl.org/id/ENSP00000444794.1" } ] } }, { "isoform_ac": "F5H5L8-1", "url": "", "sequence": { "sequence": "MLPAATEVQKDHAGSCGEGNLKGKKLEEGRLDTKHRAMLRLQGQKDMVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYE", "length": 148, "header": "tr|F5H5L8-1|FOLR2_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=1 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221025, "end_pos": 72216899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541003.5", "url": "https://www.ensembl.org/id/ENST00000541003.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443307.1", "url": "https://www.ensembl.org/id/ENSP00000443307.1" } ] } }, { "isoform_ac": "J3KQP4-1", "url": "", "sequence": { "sequence": "MLPAATEVQLRLQGQKDMVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSAALCEGLWSHSYKVSNYSRGSGRCIQMWFDSAQGNPNEEVARFYAAAMHVNAGEMLHGTGGLLLSLALMLQLWLLG", "length": 251, "header": "tr|J3KQP4-1|FOLR2_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=1 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221759, "end_pos": 72216899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449475.6", "url": "https://www.ensembl.org/id/ENST00000449475.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405638.2", "url": "https://www.ensembl.org/id/ENSP00000405638.2" } ] } }, { "isoform_ac": "J3KR13-1", "url": "", "sequence": { "sequence": "MLPAATEVQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRTFESYFPTPAALCEGLWSHSYKVSNYSRGSGRCIQMWFDSAQGNPNEEVARFYAAAMHVNAGEMLHGTGGLLLSLALMLQLWLLG", "length": 214, "header": "tr|J3KR13-1|J3KR13_HUMAN Computationally mapped isoform of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=1 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221759, "end_pos": 72216899, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454954.6", "url": "https://www.ensembl.org/id/ENST00000454954.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000414094.2", "url": "https://www.ensembl.org/id/ENSP00000414094.2" } ] } }, { "isoform_ac": "P14207-1", "url": "", "sequence": { "sequence": "MVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRTFESYFPTPAALCEGLWSHSYKVSNYSRGSGRCIQMWFDSAQGNPNEEVARFYAAAMHVNAGEMLHGTGGLLLSLALMLQLWLLG", "length": 255, "header": "sp|P14207-1|FOLR2_HUMAN Isoform 1 of Folate receptor beta OS=Homo sapiens OX=9606 GN=FOLR2 PE=1 SV=4 CANONICAL=P14207-1" }, "locus": { "chromosome": "11", "start_pos": 72221759, "end_pos": 72218585, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000298223.11", "url": "https://www.ensembl.org/id/ENST00000298223.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000298223.6", "url": "https://www.ensembl.org/id/ENSP00000298223.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "P14207", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14207#ptm_processing" }, { "id": "4KN0", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4KN0" }, { "id": "23934049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23934049" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 195, "start_aa": 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"id": "10091649", "url": "https://glygen.org/publication/PubMed/10091649" } ] }, { "title": "Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ferguson PL, Flintoff WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10347183", "url": "https://glygen.org/publication/PubMed/10347183" } ] }, { "title": "Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Titus SA, Moran RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "10978331", "url": "https://glygen.org/publication/PubMed/10978331" } ] }, { "title": "Structure and expression of the human glycosylphosphatidylinositol phospholipase D1 (GPLD1) gene.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Schofield JN, Rademacher TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-163125", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125" } ], "reference": [ { "type": "PubMed", "id": "11072085", "url": "https://glygen.org/publication/PubMed/11072085" } ] }, { "title": "Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Prasannan P, Pike S, Peng K, Shane B, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "12937168", "url": "https://glygen.org/publication/PubMed/12937168" } ] }, { "title": "Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.", "journal": "Archives of biochemistry and biophysics", "date": "2005", "authors": "Walkup AS, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "16171773", "url": "https://glygen.org/publication/PubMed/16171773" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P14207", "url": "https://www.uniprot.org/uniprot/P14207" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.", "journal": "Cell", "date": "2006", "authors": "Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "17129779", "url": "https://glygen.org/publication/PubMed/17129779" } ] }, { "title": "Pemetrexed: biochemical and cellular pharmacology, mechanisms, and clinical applications.", "journal": "Molecular cancer therapeutics", "date": "2007", "authors": "Chattopadhyay S, Moran RG, Goldman ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "17308042", "url": "https://glygen.org/publication/PubMed/17308042" } ] }, { "title": "Trimetrexate and folinic acid: a valuable salvage option for Pneumocystis jirovecii pneumonia.", "journal": "AIDS (London, England)", "date": "2009", "authors": "Short CE, Gilleece YC, Fisher MJ, Churchill DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "19424049", "url": "https://glygen.org/publication/PubMed/19424049" } ] }, { "title": "Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Pike ST, Rajendra R, Artzt K, Appling DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "19948730", "url": "https://glygen.org/publication/PubMed/19948730" } ] }, { "title": "ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Krupenko NI, Dubard ME, Strickland KC, Moxley KM, Oleinik NV, Krupenko SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": 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Yi xue ban = Journal of Central South University. Medical sciences", "date": "2022", "authors": "Song X, Huang P, Wang T, Zhang S, Chen L, Qin J", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" } ], "reference": [ { "type": "PubMed", "id": "35545363", "url": "https://glygen.org/publication/PubMed/35545363" } ] }, { "title": "Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.", "journal": "Acta biochimica Polonica", "date": "2023-10-26", "authors": "Hussain Nageen, Malik Saira, Faiz Tayyaba, Shafqat Fiza, Khan Ayaz Ali, Haq Taqweem Ul, Ali Waqar, Aziz Tariq, Alharbi Metab, Alshammari Abdulrahman, Alasmari Abdullah F", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" } ], "reference": [ { "type": "PubMed", "id": "37883728", "url": "https://glygen.org/publication/PubMed/37883728" } ] }, { "title": "Human liver methenyltetrahydrofolate synthetase: improved purification and increased affinity for folate polyglutamate substrates.", "journal": "Biochimica et biophysica acta", "date": "1987", "authors": "Bertrand R, MacKenzie RE, Jolivet J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "3801490", "url": "https://glygen.org/publication/PubMed/3801490" } ] }, { "title": "microRNA-622 upregulates cell cycle process by targeting FOLR2 to promote CRC proliferation.", "journal": "BMC cancer", "date": "2024-01-02", "authors": "Chen Yuehong, Liu Feng, Chen Xinhua, Li Wenyi, Li Kejun, Cai Hailang, Wang Shunyi, Wang Honglei, Xu Ke, Zhang Chenxi, Ye Shengzhi, Shen Yunhao, Mou Tingyu, Cai Shumin, Zhou Jianwei, Yu Jiang", "evidence": [ { "database": "RefSeq", "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794" } ], "reference": [ { "type": "PubMed", "id": "38166756", "url": "https://glygen.org/publication/PubMed/38166756" } ] }, { "title": "C1-Tetrahydrofolate synthase from rabbit liver. Structural and kinetic properties of the enzyme and its two domains.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Villar E, Schuster B, Peterson D, Schirch V", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "3871768", "url": "https://glygen.org/publication/PubMed/3871768" } ] }, { "title": "Studies of the role of a particulate folate-binding protein in the uptake of 5-methyltetrahydrofolate by cultured human KB cells.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Antony AC, Kane MA, Portillo RM, Elwood PC, Kolhouse JF", "evidence": [ { "database": "UniProtKB", "id": "P14207", "url": "https://www.uniprot.org/uniprot/P14207" }, { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "4066659", "url": "https://glygen.org/publication/PubMed/4066659" } ] }, { "title": "The functional human dihydrofolate reductase gene.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Chen MJ, Shimada T, Moulton AD, Cline A, Humphries RK, Maizel J, Nienhuis AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "6323448", "url": "https://glygen.org/publication/PubMed/6323448" } ] }, { "title": "Preferred sites of glycosylphosphatidylinositol modification in folate receptors and constraints in the primary structure of the hydrophobic portion of the signal.", "journal": "Biochemistry", "date": "1995", "authors": "Yan W, Ratnam M", "evidence": [ { "database": "UniProtKB", "id": "P14207", "url": "https://www.uniprot.org/uniprot/P14207" } ], "reference": [ { "type": "PubMed", "id": "7578066", "url": "https://glygen.org/publication/PubMed/7578066" } ] }, { "title": "Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.", "journal": "American journal of human genetics", "date": "1995", "authors": "Goyette P, Frosst P, Rosenblatt DS, Rozen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "7726158", "url": "https://glygen.org/publication/PubMed/7726158" } ] }, { "title": "Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Williams FM, Flintoff WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "7852378", "url": "https://glygen.org/publication/PubMed/7852378" } ] }, { "title": "Characterization of the gene encoding a folate-binding protein expressed in human placenta. 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Chem.", "date": "1994", "authors": "Sadasivan E, Cedeno M M, Rothenberg S P", "evidence": [ { "database": "UniProtKB", "id": "P14207", "url": "https://www.uniprot.org/uniprot/P14207" } ], "reference": [ { "type": "PubMed", "id": "8106441", "url": "https://glygen.org/publication/PubMed/8106441" } ] }, { "title": "NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is the mammalian homolog of the mitochondrial enzyme encoded by the yeast MIS1 gene.", "journal": "Biochemistry", "date": "1993", "authors": "Yang XM, MacKenzie RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-196757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196757" } ], "reference": [ { "type": "PubMed", "id": "8218174", "url": "https://glygen.org/publication/PubMed/8218174" } ] }, { "title": "Expression of the human placental folate receptor transcript is regulated in human tissues. Organization and full nucleotide sequence of the gene.", "journal": "J. Mol. 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