{ "uniprot_canonical_ac": "O75751-1", "uniprot_ac": "O75751", "uniprot_id": "S22A3_HUMAN", "mass": { "chemical_mass": 61280.0, "monoisotopic_mass": 61280.0 }, "refseq": { "ac": "NP_068812", "name": "solute carrier family 22 member 3", "summary": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812" }, "gene_names": [ { "name": "SLC22A3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75751", "id": "O75751" }, { "name": "EMT; EMTH; OCT3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812", "id": "NP_068812" }, { "name": "EMTH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75751", "id": "O75751" }, { "name": "OCT3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75751", "id": "O75751" }, { "name": "SLC22A3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812", "id": "NP_068812" } ], "protein_names": [ { "name": "Solute carrier family 22 member 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75751" }, { "name": "EMT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75751" }, { "name": "Extraneuronal monoamine transporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75751" }, { "name": "OCT3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75751" }, { "name": "Organic cation transporter 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75751" }, { "name": "organic cation transporter 3; EMT organic cation transporter 3; extraneuronal monoamine transporter; solute carrier family 22 (extraneuronal monoamine transporter), member 3; solute carrier family 22 (organic cation transporter), member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812", "id": "NP_068812" }, { "name": "solute carrier family 22 member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812", "id": "NP_068812" } ], "function": [ { "annotation": "A Single Nucleotide Polymorphism (SNP) in the SLC22A3 Transporter Gene Is Associated With the Severity of Oral Mucositis in Multiple Myeloma Patients Receiving Autologous Stem Cell Transplant Followed by Melphalan Therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_068812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812" }, { "database": "PubMed", "id": "34969749", "url": "https://glygen.org/publication/PubMed/34969749" } ] }, { "annotation": "Electrogenic voltage-dependent transporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics (PubMed:10196521, PubMed:10966924, PubMed:12538837, PubMed:17460754, PubMed:20858707). Cation cellular uptake or release is driven by the electrochemical potential, i.e. membrane potential and concentration gradient (PubMed:10966924). Functions as a Na(+)- and Cl(-)-independent, bidirectional uniporter (PubMed:12538837). Implicated in monoamine neurotransmitters uptake such as dopamine, adrenaline/epinephrine, noradrenaline/norepinephrine, histamine, serotonin and tyramine, thereby supporting a role in homeostatic regulation of aminergic neurotransmission in the brain (PubMed:10196521, PubMed:16581093, PubMed:20858707). Transports dopaminergic neuromodulators cyclo(his-pro) and salsolinol with low efficiency (PubMed:17460754). May be involved in the uptake and disposition of cationic compounds by renal clearance from the blood flow (PubMed:10966924). May contribute to regulate the transport of cationic compounds in testis across the blood-testis-barrier (Probable). Mediates the transport of polyamine spermidine and putrescine (By similarity). Mediates the bidirectional transport of polyamine agmatine (PubMed:12538837). Also transports guanidine (PubMed:10966924). May also mediate intracellular transport of organic cations, thereby playing a role in amine metabolism and intracellular signaling (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751#function" }, { "database": "PubMed", "id": "10196521", "url": "https://glygen.org/publication/PubMed/10196521" }, { "database": "PubMed", "id": "10966924", "url": "https://glygen.org/publication/PubMed/10966924" }, { "database": "PubMed", "id": "12538837", "url": "https://glygen.org/publication/PubMed/12538837" }, { "database": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" }, { "database": "PubMed", "id": "17460754", "url": "https://glygen.org/publication/PubMed/17460754" }, { "database": "UniProtKB", "id": "O88446", "url": "https://www.uniprot.org/uniprot/O88446#function" }, { "database": "PubMed", "id": "20858707", "url": "https://glygen.org/publication/PubMed/20858707" }, { "database": "PubMed", "id": "16581093", "url": "https://glygen.org/publication/PubMed/16581093" } ] }, { "annotation": "Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape.", "evidence": [ { "database": "RefSeq", "id": "NP_068812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812" }, { "database": "PubMed", "id": "37924453", "url": "https://glygen.org/publication/PubMed/37924453" } ] }, { "annotation": "HIST1H2BN induced cell proliferation and EMT phenotype in prostate cancer via NF-kappaB signal pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_068812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812" }, { "database": "PubMed", "id": "34537918", "url": "https://glygen.org/publication/PubMed/34537918" } ] }, { "annotation": "LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population.", "evidence": [ { "database": "RefSeq", "id": "NP_068812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812" }, { "database": "PubMed", "id": "37843894", "url": "https://glygen.org/publication/PubMed/37843894" } ] }, { "annotation": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_068812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812" } ] }, { "annotation": "Repression of SLC22A3 by the AR-V7/YAP1/TAZ axis in enzalutamide-resistant castration-resistant prostate cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_068812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068812" }, { "database": "PubMed", "id": "36254631", "url": "https://glygen.org/publication/PubMed/36254631" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1010730036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1010730036" }, { "id": "rs1010730036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1010730036#frequency_tab" }, { "id": "rs1010730036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1010730036" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 121, "end_pos": 121, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NR*).", "chr_id": "6", "chr_pos": "160348781", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1010730036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1010730036" }, { "id": "rs1010730036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1010730036#frequency_tab" }, { "id": "rs1010730036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1010730036" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 121, "end_pos": 121, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRL).", "chr_id": "6", "chr_pos": "160348781", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1344342342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344342342" }, { "id": "rs1344342342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344342342" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 164, "end_pos": 164, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "6", "chr_pos": "160398039", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867935998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867935998" }, { "id": "rs867935998", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867935998" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 206, "end_pos": 206, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "6", "chr_pos": "160407123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745551605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745551605" }, { "id": "rs745551605", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745551605" }, { "id": "rs745551605", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745551605" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 322, "end_pos": 322, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->KYS).", "chr_id": "6", "chr_pos": "160410837", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777937114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777937114" }, { "id": "rs777937114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777937114" }, { "id": "rs777937114", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777937114#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 322, "end_pos": 322, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->SYS).", "chr_id": "6", "chr_pos": "160410836", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762514449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762514449" }, { "id": "rs762514449", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762514449" }, { "id": "rs762514449", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762514449" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRM).", "chr_id": "6", "chr_pos": "160348640", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T74", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762514449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762514449" }, { "id": "rs762514449", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762514449" }, { "id": "rs762514449", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762514449" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRR).", "chr_id": "6", "chr_pos": "160348640", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T74", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 289, "end_pos": 289, "sequence_org": "P", "sequence_mut": "A", "comment": "Decreased TEA uptake.", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" }, { "database": "PubMed", "id": "26979622", "url": "https://glygen.org/publication/PubMed/26979622" } ] }, { "start_pos": 363, "end_pos": 363, "sequence_org": "V", "sequence_mut": "F", "comment": "Decreased TEA uptake.", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" }, { "database": "PubMed", "id": "26979622", "url": "https://glygen.org/publication/PubMed/26979622" } ] }, { "start_pos": 380, "end_pos": 380, "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreased TEA uptake.", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" }, { "database": "PubMed", "id": "26979622", "url": "https://glygen.org/publication/PubMed/26979622" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "54.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "63.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "69.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "64.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "73.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000146477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000146477" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75751", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75751" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "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", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75751", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75751" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75751", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75751" } ], "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 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"title": "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.", "journal": "Human molecular genetics", "date": "1999", "authors": "Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10072434", "url": "https://glygen.org/publication/PubMed/10072434" } ] }, { "title": "Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter.", "journal": "Nature neuroscience", "date": "1998", "authors": "Grundemann D, Schechinger B, Rappold GA, Schomig E", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" }, { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10196521", "url": "https://glygen.org/publication/PubMed/10196521" } ] }, { "title": "Structure, function, and regional distribution of the organic cation transporter OCT3 in the kidney.", "journal": "American journal of physiology. Renal physiology", "date": "2000", "authors": "Wu X, Huang W, Ganapathy ME, Wang H, Kekuda R, Conway SJ, Leibach FH, Ganapathy V", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" }, { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10966924", "url": "https://glygen.org/publication/PubMed/10966924" } ] }, { "title": "Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Enomoto A, Wempe MF, Tsuchida H, Shin HJ, Cha SH, Anzai N, Goto A, Sakamoto A, Niwa T, Kanai Y, Anders MW, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12089149", "url": "https://glygen.org/publication/PubMed/12089149" } ] }, { "title": "Novel human cDNAs homologous to Drosophila Orct and mammalian carnitine transporters.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Eraly SA, Nigam SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12372408", "url": "https://glygen.org/publication/PubMed/12372408" } ] }, { "title": "Identification of OCT6 as a novel organic cation transporter preferentially expressed in hematopoietic cells and leukemias.", "journal": "Experimental hematology", "date": "2002", "authors": "Gong S, Lu X, Xu Y, Swiderski CF, Jordan CT, Moscow JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12384147", "url": "https://glygen.org/publication/PubMed/12384147" } ] }, { "title": "Agmatine is efficiently transported by non-neuronal monoamine transporters extraneuronal monoamine transporter (EMT) and organic cation transporter 2 (OCT2).", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2003-02", "authors": "Gr\u00fcndemann Dirk, Hahne Christian, Berkels Reinhard, Sch\u00f6mig Edgar", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" } ], "reference": [ { "type": "PubMed", "id": "12538837", "url": "https://glygen.org/publication/PubMed/12538837" } ] }, { "title": "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.", "journal": "Nature genetics", "date": "2003", "authors": "Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "14608356", "url": "https://glygen.org/publication/PubMed/14608356" } ] }, { "title": "Functional variants of OCTN cation transporter genes are associated with Crohn disease.", "journal": "Nature genetics", "date": "2004", "authors": "Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15107849", "url": "https://glygen.org/publication/PubMed/15107849" } ] }, { "title": "SLC22A4 and RUNX1: identification of RA susceptible genes.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2004", "authors": "Yamada R, Tokuhiro S, Chang X, Yamamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15184985", "url": "https://glygen.org/publication/PubMed/15184985" } ] }, { "title": "Discovery of the ergothioneine transporter.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Grundemann D, Harlfinger S, Golz S, Geerts A, Lazar A, Berkels R, Jung N, Rubbert A, Schomig E", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15795384", "url": "https://glygen.org/publication/PubMed/15795384" } ] }, { "title": "Polyspecific cation transporters mediate luminal release of acetylcholine from bronchial epithelium.", "journal": "Am. J. Respir. Cell Mol. Biol.", "date": "2005", "authors": "Lips Katrin Susanne, Volk Christopher, Schmitt Bernhard Matthias, Pfeil Uwe, Arndt Petra, Miska Dagmar, Ermert Leander, Kummer Wolfgang, Koepsell Hermann", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" } ], "reference": [ { "type": "PubMed", "id": "15817714", "url": "https://glygen.org/publication/PubMed/15817714" } ] }, { "title": "Drug specificity and intestinal membrane localization of human organic cation transporters (OCT).", "journal": "Biochem. Pharmacol.", "date": "2005", "authors": "M\u00fcller Johanna, Lips Katrin S, Metzner Linda, Neubert Reinhard H H, Koepsell Hermann, Brandsch Matthias", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" } ], "reference": [ { "type": "PubMed", "id": "16263091", "url": "https://glygen.org/publication/PubMed/16263091" } ] }, { "title": "Differential pharmacological in vitro properties of organic cation transporters and regional distribution in rat brain.", "journal": "Neuropharmacology", "date": "2006-06", "authors": "Amphoux Anne, Vialou Vincent, Drescher Eva, Br\u00fcss Michael, Mannoury La Cour Clotilde, Rochat Catherine, Millan Mark J, Giros Bruno, B\u00f6nisch Heinz, Gautron Sophie", "evidence": [ { "database": "UniProtKB", "id": "O75751", "url": "https://www.uniprot.org/uniprot/O75751" } ], "reference": [ { "type": "PubMed", "id": "16581093", "url": "https://glygen.org/publication/PubMed/16581093" } ] }, { "title": "RS1 (RSC1A1) regulates the exocytotic pathway of Na+-D-glucose cotransporter SGLT1.", "journal": "American journal of physiology. 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