{ "uniprot_canonical_ac": "P31641-1", "uniprot_ac": "P31641", "uniprot_id": "SC6A6_HUMAN", "mass": { "chemical_mass": 69830.0, "monoisotopic_mass": 69830.0 }, "refseq": { "ac": "NP_001127839", "name": "sodium- and chloride-dependent taurine transporter isoform c", "summary": "This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839" }, "gene_names": [ { "name": "SLC6A6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P31641", "id": "P31641" }, { "name": "HTRDC; TAUT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839", "id": "NP_001127839" }, { "name": "SLC6A6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839", "id": "NP_001127839" } ], "protein_names": [ { "name": "Sodium- and chloride-dependent taurine transporter", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P31641" }, { "name": "Solute carrier family 6 member 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P31641" }, { "name": "sodium- and chloride-dependent taurine transporter isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839", "id": "NP_001127839" }, { "name": "sodium- and chloride-dependent taurine transporter; solute carrier family 6 (neurotransmitter transporter, taurine), member 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839", "id": "NP_001127839" } ], "function": [ { "annotation": "Mediates sodium- and chloride-dependent transport of taurine (PubMed:8382624, PubMed:8010975, PubMed:8654117, PubMed:31345061, PubMed:31903486). Mediates transport of beta-alanine (PubMed:8010975). Can also mediate transport of hypotaurine and gamma-aminobutyric acid (GABA) (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641#function" }, { "database": "PubMed", "id": "31903486", "url": "https://glygen.org/publication/PubMed/31903486" }, { "database": "PubMed", "id": "31345061", "url": "https://glygen.org/publication/PubMed/31345061" }, { "database": "UniProtKB", "id": "O35316", "url": "https://www.uniprot.org/uniprot/O35316#function" }, { "database": "PubMed", "id": "8382624", "url": "https://glygen.org/publication/PubMed/8382624" }, { "database": "PubMed", "id": "8654117", "url": "https://glygen.org/publication/PubMed/8654117" }, { "database": "PubMed", "id": "8010975", "url": "https://glygen.org/publication/PubMed/8010975" } ] }, { "annotation": "Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001127839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839" }, { "database": "PubMed", "id": "32114438", "url": "https://glygen.org/publication/PubMed/32114438" } ] }, { "annotation": "Significance of taurine transporter (TauT) in homeostasis and its layers of regulation (Review). Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001127839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839" }, { "database": "PubMed", "id": "32705197", "url": "https://glygen.org/publication/PubMed/32705197" } ] }, { "annotation": "Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641#function" }, { "database": "PubMed", "id": "31903486", "url": "https://glygen.org/publication/PubMed/31903486" }, { "database": "PubMed", "id": "31345061", "url": "https://glygen.org/publication/PubMed/31345061" }, { "database": "PubMed", "id": "8382624", "url": "https://glygen.org/publication/PubMed/8382624" } ] }, { "annotation": "This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001127839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127839" } ] } ], "disease": [ { "disease_id": "MONDO:0007777", "recommended_name": { "id": "MONDO:0007777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007777", "name": "hypotaurinemic retinal degeneration and cardiomyopathy", "description": "" }, "synonyms": [ { "id": "MONDO:0007777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007777", "name": "hypotaurinemic retinal degeneration and cardiomyopathy", "description": "" }, { "id": "MIM:145350", "resource": "MIM", "url": "https://www.omim.org/entry/145350", "name": "Hypotaurinemic retinal degeneration and cardiomyopathy", "description": "Hypotaurinemic retinal degeneration and cardiomyopathy" } ], "evidence": [ { "id": "145350", "database": "MIM", "url": "https://www.omim.org/entry/145350" } ] } ], "snv": [ { "evidence": [ { "id": "rs745583072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745583072" }, { "id": "rs745583072", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745583072" }, { "id": "rs745583072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745583072" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 187, "end_pos": 187, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "3", "chr_pos": "14447777", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320201655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320201655" }, { "id": "rs1320201655", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320201655#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 192, "end_pos": 192, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI).", "chr_id": "3", "chr_pos": "14447792", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778286920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778286920" }, { "id": "rs778286920", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778286920" }, { "id": "rs778286920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778286920" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 205, "end_pos": 205, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "3", "chr_pos": "14457964", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770074983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770074983" }, { "id": "rs770074983", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770074983" }, { "id": "rs770074983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770074983" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 607, "end_pos": 607, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "3", "chr_pos": "14484963", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A607", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "56.12", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "56.03", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "81.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131389", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131389" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "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 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"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": 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}, { "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "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": 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"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", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P31641", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P31641" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"id": "A0A087WYN0-1", "url": "https://www.uniprot.org/uniprot/A0A087WYN0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYY8", "url": "https://www.uniprot.org/uniprot/A0A087WYY8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYY8-1", "url": "https://www.uniprot.org/uniprot/A0A087WYY8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZ59", "url": "https://www.uniprot.org/uniprot/A0A087WZ59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZ59-1", "url": "https://www.uniprot.org/uniprot/A0A087WZ59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JPV1", "url": "https://www.uniprot.org/uniprot/C9JPV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JPV1-1", "url": "https://www.uniprot.org/uniprot/C9JPV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1B9", "url": "https://www.uniprot.org/uniprot/H7C1B9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1B9-1", "url": "https://www.uniprot.org/uniprot/H7C1B9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P31641-1", "url": "https://www.uniprot.org/uniprot/P31641-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P31641-2", "url": "https://www.uniprot.org/uniprot/P31641-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETMM", "length": 620, "header": "sp|P31641-1|SC6A6_HUMAN Isoform 1 of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=2 CANONICAL=P31641-1" }, "isoforms": [ { "isoform_ac": "A0A087WY96-1", "url": "", "sequence": { "sequence": "MGDAESCLLRQQTREVRKKPLINYRFLRAAANAEPRGPQAQRTSCAKRECGAFTQRVRERAGRQPPAGGTRHSRAERGRRRSHPRSRTRTTALLRSSQTKEMATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETMM", "length": 721, "header": "tr|A0A087WY96-1|SC6A6_HUMAN Computationally mapped isoform of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=1 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14485004, "end_pos": 14402594, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613060.4", "url": "https://www.ensembl.org/id/ENST00000613060.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481625.1", "url": "https://www.ensembl.org/id/ENSP00000481625.1" } ] } }, { "isoform_ac": "A0A087WYN0-1", "url": "", "sequence": { "sequence": "MGDAESCLLRQQTREVRKKPLINYRFLRAAANAEPRGPQAQRTSCAKRECGAFTQRVRERAGRQPPAGGTRHSRAERGRRRSHPRSRTRTTALLRSSQTKEMATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRSWPGLHCLPKSCDNDAAAHILVHSFFYYASLAWTG", "length": 460, "header": "tr|A0A087WYN0-1|SC6A6_HUMAN Computationally mapped isoform of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=1 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14472310, "end_pos": 14402594, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618278.4", "url": "https://www.ensembl.org/id/ENST00000618278.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481946.1", "url": "https://www.ensembl.org/id/ENSP00000481946.1" } ] } }, { "isoform_ac": "A0A087WYY8-1", "url": "", "sequence": { "sequence": "XQTREVRKKPLINYRFLRAAANAEPRGPQAQRTSCAKRECGAFTQRVRERAGRQPPAGGTRHSRAERGRRRSHPRSRTRTTALLRSSQTKQGDGHQGEAAVSERFPQGHPEALTREEPRHAA", "length": 122, "header": "tr|A0A087WYY8-1|SC6A6_HUMAN Computationally mapped isoform of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=1 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14443724, "end_pos": 14402625, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622176.4", "url": "https://www.ensembl.org/id/ENST00000622176.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482220.1", "url": "https://www.ensembl.org/id/ENSP00000482220.1" } ] } }, { "isoform_ac": "A0A087WZ59-1", "url": "", "sequence": { "sequence": "MGDAESCLLRQQTREVRKKPLINYRFLRAAANAEPRGPQAQRTSCAKRECGAFTQRVRERAGRQPPAGGTRHSRAERGRRRSHPRSRTRTTALLRSSQTKQGDGHQGEAAVSERFPQGHPEALTREEPRHAA", "length": 132, "header": "tr|A0A087WZ59-1|A0A087WZ59_HUMAN Computationally mapped isoform of Solute carrier family 6 member 6 OS=Homo sapiens OX=9606 GN=SLC6A6 PE=4 SV=1 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14443723, "end_pos": 14402594, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610642.4", "url": "https://www.ensembl.org/id/ENST00000610642.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482391.1", "url": "https://www.ensembl.org/id/ENSP00000482391.1" } ] } }, { "isoform_ac": "C9JPV1-1", "url": "", "sequence": { "sequence": "MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGG", "length": 109, "header": "tr|C9JPV1-1|SC6A6_HUMAN Computationally mapped isoform of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=1 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14445814, "end_pos": 14443635, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452775.1", "url": "https://www.ensembl.org/id/ENST00000452775.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402059.1", "url": "https://www.ensembl.org/id/ENSP00000402059.1" } ] } }, { "isoform_ac": "H7C1B9-1", "url": "", "sequence": { "sequence": "XTMMPLPTFWSILFFIMLLLLGLDSQGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPN", "length": 95, "header": "tr|H7C1B9-1|SC6A6_HUMAN Computationally mapped isoform of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=1 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14484903, "end_pos": 14472242, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452151.1", "url": "https://www.ensembl.org/id/ENST00000452151.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399522.1", "url": "https://www.ensembl.org/id/ENSP00000399522.1" } ] } }, { "isoform_ac": "P31641-1", "url": "", "sequence": { "sequence": "MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETMM", "length": 620, "header": "sp|P31641-1|SC6A6_HUMAN Isoform 1 of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=2 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14485004, "end_pos": 14443635, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622186.5", "url": "https://www.ensembl.org/id/ENST00000622186.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000480890.1", "url": "https://www.ensembl.org/id/ENSP00000480890.1" } ] } }, { "isoform_ac": "P31641-2", "url": "", "sequence": { "sequence": "MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWE", "length": 200, "header": "sp|P31641-2|SC6A6_HUMAN Isoform 2 of Sodium- and chloride-dependent taurine transporter OS=Homo sapiens OX=9606 GN=SLC6A6 PE=1 SV=2 CANONICAL=P31641-1" }, "locus": { "chromosome": "3", "start_pos": 14447817, "end_pos": 14443635, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621751.4", "url": "https://www.ensembl.org/id/ENST00000621751.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482560.1", "url": "https://www.ensembl.org/id/ENSP00000482560.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "P31641", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31641#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P31641", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31641#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 190, "start_aa": "Asn", "end_pos": 190, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn190", "evidence": [ { "id": "P31641", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31641#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ], "phosphorylation": [ { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31641", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31641" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser21" }, { "start_pos": 25, "end_pos": 25, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31641", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31641" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser25" }, { "start_pos": 322, "end_pos": 322, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "site_lbl": "Ser322" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Functional characterization of the Betaine/gamma-aminobutyric acid transporter BGT-1 expressed in Xenopus oocytes.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Matskevitch I, Wagner CA, Stegen C, Broer S, Noll B, Risler T, Kwon HM, Handler JS, Waldegger S, Busch AE, Lang F", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10358010", "url": "https://glygen.org/publication/PubMed/10358010" } ] }, { "title": "Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10391915", "url": "https://glygen.org/publication/PubMed/10391915" } ] }, { "title": "Cloning and functional expression of a human Na(+) and Cl(-)-dependent neutral and cationic amino acid transporter B(0+).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sloan JL, Mager S", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10446133", "url": "https://glygen.org/publication/PubMed/10446133" } ] }, { "title": "Identification of three cationic amino acid transporters in placental trophoblast: cloning, expression, and characterization of hCAT-1.", "journal": "The Journal of membrane biology", "date": "1999", "authors": "Kamath SG, Furesz TC, Way BA, Smith CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10485994", "url": "https://glygen.org/publication/PubMed/10485994" } ] }, { "title": "Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.", "journal": "The New England journal of medicine", "date": "2000", "authors": "Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10684912", "url": "https://glygen.org/publication/PubMed/10684912" } ] }, { "title": "Neutral amino acid transporter ASCT2 displays substrate-induced Na+ exchange and a substrate-gated anion conductance.", "journal": "The Biochemical journal", "date": "2000", "authors": "Broer A, Wagner C, Lang F, Broer S", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10698697", "url": "https://glygen.org/publication/PubMed/10698697" } ] }, { "title": "Primary structure, genomic organization, and functional and electrogenic characteristics of human system N 1, a Na+- and H+-coupled glutamine transporter.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Fei YJ, Sugawara M, Nakanishi T, Huang W, Wang H, Prasad PD, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10823827", "url": "https://glygen.org/publication/PubMed/10823827" } ] }, { "title": "Cloning and characterization of a human brain Na(+)-independent transporter for small neutral amino acids that transports D-serine with high affinity.", "journal": "Neuroscience letters", "date": "2000", "authors": "Nakauchi J, Matsuo H, Kim DK, Goto A, Chairoungdua A, Cha SH, Inatomi J, Shiokawa Y, Yamaguchi K, Saito I, Endou H, Kanai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "10863037", "url": "https://glygen.org/publication/PubMed/10863037" } ] }, { "title": "Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations.", "journal": "Molecular psychiatry", "date": "2000", "authors": "Vandenbergh DJ, Thompson MD, Cook EH, Bendahhou E, Nguyen T, Krasowski MD, Zarrabian D, Comings D, Sellers EM, Tyndale RF, George SR, O'Dowd BF, Uhl GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10889531", "url": "https://glygen.org/publication/PubMed/10889531" } ] }, { "title": "Cloning and functional expression of ATA1, a subtype of amino acid transporter A, from human placenta.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Wang H, Huang W, Sugawara M, Devoe LD, Leibach FH, Prasad PD, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { 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J.", "date": "1994", "authors": "Ramamoorthy S, Leibach FH, Mahesh VB, Han H, Yang-Feng T, Blakely RD, Ganapathy V", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" }, { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "8010975", "url": "https://glygen.org/publication/PubMed/8010975" } ] }, { "title": "Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Arriza JL, Kavanaugh MP, Fairman WA, Wu YN, Murdoch GH, North RA, Amara SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8101838", "url": "https://glygen.org/publication/PubMed/8101838" } ] }, { "title": "Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes.", "journal": "Molecular pharmacology", "date": "1994", "authors": "Kim KM, Kingsmore SF, Han H, Yang-Feng TL, Godinot N, Seldin MF, Caron MG, Giros B", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "8183239", "url": "https://glygen.org/publication/PubMed/8183239" } ] }, { "title": "Functional identification and molecular cloning of a human brain vesicle monoamine transporter.", "journal": "Journal of neurochemistry", "date": "1993", "authors": "Erickson JD, Eiden LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "8245983", "url": "https://glygen.org/publication/PubMed/8245983" } ] }, { "title": "Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na+/glutamate cotransporters.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Shafqat S, Tamarappoo BK, Kilberg MS, Puranam RS, McNamara JO, Guadano-Ferraz A, Fremeau RT Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8340364", "url": "https://glygen.org/publication/PubMed/8340364" } ] }, { "title": "Cloning of the human taurine transporter and characterization of taurine uptake in thyroid cells.", "journal": "FEBS Lett.", "date": "1993", "authors": "McGill J., Tong Q., Fithian L., Jhiang S.M., Mazzaferri E.L., Smanik P.", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "reference": [ { "type": "PubMed", "id": "8382624", "url": "https://glygen.org/publication/PubMed/8382624" } ] }, { "title": "Distinct pharmacological properties and distribution in neurons and endocrine cells of two isoforms of the human vesicular monoamine transporter.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Erickson JD, Schafer MK, Bonner TI, Eiden LE, Weihe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "8643547", "url": "https://glygen.org/publication/PubMed/8643547" } ] }, { "title": "Isolation of a cDNA encoding a taurine transporter in the human retinal pigment epithelium.", "journal": "Curr. Eye Res.", "date": "1996", "authors": "Miyamoto Y., Liou G.I., Sprinkle T.J.", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "reference": [ { "type": "PubMed", "id": "8654117", "url": "https://glygen.org/publication/PubMed/8654117" } ] }, { "title": "Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Kekuda R, Prasad PD, Fei YJ, Torres-Zamorano V, Sinha S, Yang-Feng TL, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8702519", "url": "https://glygen.org/publication/PubMed/8702519" } ] }, { "title": "ASCT-1 is a neutral amino acid exchanger with chloride channel activity.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Zerangue N, Kavanaugh MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "8910405", "url": "https://glygen.org/publication/PubMed/8910405" } ] }, { "title": "Human cationic amino acid transporters hCAT-1, hCAT-2A, and hCAT-2B: three related carriers with distinct transport properties.", "journal": "Biochemistry", "date": "1997", "authors": "Closs EI, Graf P, Habermeier A, Cunningham JM, Forstermann U", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "9174363", "url": "https://glygen.org/publication/PubMed/9174363" } ] }, { "title": "Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome.", "journal": "FEBS letters", "date": "1998", "authors": "Morrow JA, Collie IT, Dunbar DR, Walker GB, Shahid M, Hill DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "9845349", "url": "https://glygen.org/publication/PubMed/9845349" } ] }, { "title": "Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family.", "journal": "The EMBO journal", "date": "1999", "authors": "Pfeiffer R, Rossier G, Spindler B, Meier C, Kuhn L, Verrey F", "evidence": [ { "database": "Reactome", "id": "R-HSA-352230", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-352230" } ], "reference": [ { "type": "PubMed", "id": "9878049", "url": "https://glygen.org/publication/PubMed/9878049" } ] } ], "pathway": [ { "id": "hsa:6533", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6533", "resource": "KEGG Pathway" 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"name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "amino acid:sodium symporter activity", "id": "GO:0005283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005283", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "taurine:sodium symporter activity", "id": "GO:0005369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005369", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "alanine transmembrane transporter activity", "id": "GO:0022858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022858", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid transmembrane transporter activity", "id": "GO:0015185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015185", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "alanine transport", "id": "GO:0032328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032328", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": "https://www.uniprot.org/uniprot/P31641" } ], "pmid": "" }, { "name": "taurine transport", "id": "GO:0015734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015734", "evidence": [ { "database": "UniProtKB", "id": "P31641", "url": 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