{ "uniprot_canonical_ac": "A0PJK1-1", "ptm_annotation": [], "sequence": { "header": "sp|A0PJK1-1|SC5AA_HUMAN Isoform 1 of Sodium/glucose cotransporter 5 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1", "length": 596, "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA" }, "uniprot_id": "SC5AA_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19237446", "type": [ "PubMed" ], "id": "19237446" } ], "title": "A neural network model for constructing endophenotypes of common complex diseases: an application to male young-onset hypertension microarray data.", "journal": "Bioinformatics (Oxford, England)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ], "authors": "Lynn KS, Li LL, Lin YJ, Wang CH, Sheng SH, Lin JH, Liao W, Hsu WL, Pan WH", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22127746", "type": [ "PubMed" ], "id": "22127746" } ], "title": "Quantitative PCR tissue expression profiling of the human SGLT2 gene and related family members.", "journal": "Diabetes therapy : research, treatment and education of diabetes and related disorders", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ], "authors": "Chen J, Williams S, Ho S, Loraine H, Hagan D, Whaley JM, Feder JN", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22212718", "type": [ "PubMed" ], "id": "22212718" } ], "title": "Functional characterisation of human SGLT-5 as a novel kidney-specific sodium-dependent sugar transporter.", "journal": "FEBS Lett.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ], "authors": "Eickelmann P., Mark M., Simon E., Hildebrandt T., Augustin R., Froehner S., Grempler R.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24573086", "type": [ "PubMed" ], "id": "24573086" } ], "title": "Fingerprints of hSGLT5 sugar and cation selectivity.", "journal": "American journal of physiology. Cell physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ], "authors": "Ghezzi C, Gorraitz E, Hirayama BA, Loo DD, Grempler R, Mayoux E, Wright EM", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30281872", "type": [ "PubMed" ], "id": "30281872" } ], "title": "Functional intronic variant of SLC5A10 affects DRG2 expression and survival outcomes of early-stage non-small-cell lung cancer.", "journal": "Cancer science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ], "authors": "Hong MJ, Yoo SS, Choi JE, Kang HG, Do SK, Lee JH, Lee WK, Lee J, Lee SY, Cha SI, Kim CH, Lee EB, Cho S, Jheon S, Park JY", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30976018", "type": [ "PubMed" ], "id": "30976018" } ], "title": "Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study.", "journal": "Scientific reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ], "authors": "Loomis SJ, Kottgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs R, Muzny D, Pankow J, Selvin E, Duggal P", "date": "2019" } ], "uniprot_ac": "A0PJK1", "site_annotation": [ { "end_pos": 241, "annotation": "n_glycosylation_sequon", "start_pos": 239 }, { "end_pos": 388, "annotation": "n_glycosylation_sequon", "start_pos": 386 }, { "end_pos": 6, "annotation": "n_glycosylation_sequon", "start_pos": 4 }, { "end_pos": 547, "annotation": "n_glycosylation_sequon", "start_pos": 545 }, { "end_pos": 98, "annotation": "n_glycosylation_sequon", "start_pos": 96 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1#A0PJK1-1", "isoform_ac": "A0PJK1-1", "locus": { "end_pos": 18952206, "strand": "-", "start_pos": 19020428, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000395645", "id": "ENST00000395645", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000379007", "id": "ENSP00000379007", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJK1-1|SC5AA_HUMAN Isoform 1 of Sodium/glucose cotransporter 5 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1", "length": 596, "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA" } }, { "url": "https://www.uniprot.org/uniprot/A0PJK1#A0PJK1-2", "isoform_ac": "A0PJK1-2", "locus": { "end_pos": 18952206, "strand": "-", "start_pos": 19020428, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000395643", "id": "ENST00000395643", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000379005", "id": "ENSP00000379005", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJK1-2|SC5AA_HUMAN Isoform 2 of Sodium/glucose cotransporter 5 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1", "length": 569, "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA" } }, { "url": "https://www.uniprot.org/uniprot/A0PJK1#A0PJK1-3", "isoform_ac": "A0PJK1-3", "locus": { "end_pos": 18958739, "strand": "-", "start_pos": 19020428, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000317977", "id": "ENST00000317977", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000324346", "id": "ENSP00000324346", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJK1-3|SC5AA_HUMAN Isoform 3 of Sodium/glucose cotransporter 5 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1", "length": 566, "sequence": "MTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPGAHVYEERHQVSVSRTDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRTGIPSTPPAPQSRLSFLLPETPPLERYLLGLVVMDLWLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA" } }, { "url": "https://www.uniprot.org/uniprot/A0PJK1#A0PJK1-4", "isoform_ac": "A0PJK1-4", "locus": { "end_pos": 18952206, "strand": "-", "start_pos": 19020428, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000395647", "id": "ENST00000395647", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000379008", "id": "ENSP00000379008", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJK1-4|SC5AA_HUMAN Isoform 4 of Sodium/glucose cotransporter 5 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1", "length": 612, "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPGAHVYEERHQVSVSRTDDVGCVVPSECLRACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA" } }, { "url": "https://www.uniprot.org/uniprot/A0PJK1#A0PJK1-5", "isoform_ac": "A0PJK1-5", "locus": { "end_pos": 18952206, "strand": "-", "start_pos": 19020428, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000417251", "id": "ENST00000417251", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000401875", "id": "ENSP00000401875", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJK1-5|SC5AA_HUMAN Isoform 5 of Sodium/glucose cotransporter 5 OS=Homo sapiens OX=9606 GN=SLC5A10 PE=1 SV=2 CANONICAL=A0PJK1-1", "length": 560, "sequence": "MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRNTVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYGQLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRRLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFAVALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARVCGFNAILLMCVNIFFYAYFA" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:125206", "resource": "KEGG Pathway", "id": "hsa:125206", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200", "resource": "Reactome", "id": "R-HSA-189200", "name": "Cellular hexose transport" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "annotation": "HSGLT5 is a sodium/mannose transporter that is blocked by phlorizin. Li(+) and H(+) ions were also able to drive mannose transport, and transport was electrogenic.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A0PJK1#function", "annotation": "High capacity transporter for mannose and fructose and, to a lesser extent, glucose, AMG, and galactose.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1#function", "id": "A0PJK1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "annotation": "Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "annotation": "Results show that rs2257609 C>T is located in the intron region of SLC5A10 and is significantly associated with worse overall and disease-free survival of non-small-cell lung cancer (NSCLC) patients. The rs2257609 C>T variant does not affect the expression of SLC5A10 mRNA, but alters the mRNA expression and promoter activity of DRG2.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "annotation": "SGLT-5 as a kidney mannose transporter", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "G3V8X5-1", "protein_name": "Solute carrier family 5 member 10", "sequence": { "length": 598, "sequence": "MADNSTGDIHAPGSQLSTSDIIVISLYFALNVAVGVWTACRANKNTVSGYFLAGRDMAWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYVSSEIVTLPEYIQKRFGGQRIRMYLSVLSLLLSVFTKISIDLYAGALFVHICLGWNFYLSTILTLAITALYTIAGGLATVIYTDALQTAIMVVGAVILAVKAFNQIGGYEQLEAAYAQATPSRTIPNTTCHLPRADAMHMFRDPSTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARNLNHAKAGSILASYLKMLPMGLMIMPGMISRVLFPDDVGCVVPSECLRACGAEIGCSNIAYPKLVMELMPIGLRGLMIAVMMAALLSSLTSIFNSSSTLFTMDIWRQFRPGAGERELLLVGRLVIVVLVGVSVAWIPVLQGSNSGQLFIYMQSVTSSLAPPVTAIFLLGIFWRRANEQGAFWGLMAGLLVGALRLVLEFLYPEPHCGQIDTRPFPLGSIHYLHFAIALFFLTCAVMAAGSLLSPPPQQRQIENLTWWTLDPNWSLRTKTGGSFKSSGPPSFLGWTWRPQEAECAHRYTVGQYQVSD" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/65037", "id": "65037", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Slc5a10", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q5SWY8-1", "protein_name": "Sodium/glucose cotransporter 5", "sequence": { "length": 596, "sequence": "MAGNSTGDAHVPGSQLSVTDIIVISVYFALNVAVGIWSACRANKNTVSGYFLAGRDMAWWPIGASLFASSEGSGLFVGLAGSGAAGGLAVAGFEWNATYVLLALAWVFVPIYISSEIVTLPEYIQKRFGGQRIRTYLSVLSLMLSVFTKISIDLYAGALFVHICLGWNFYLSTILTLAITALYTIAGGLATVIYTDALQTIIMVVGAVILAVKAFNQIGGYEQLEAAYAQAIPSRTIPNTTCHLPRADAMHMFRDPSTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARNLNHAKAGSILASYLKMLPMGLMIMPGMISRVLFPDDVGCVVPSECLRACGAEIGCSNIAYPKLVMELMPIGLRGLMIAVMMAALLSSLTSIFNSSSTLFTMDIWRQLRPSAGERELLLVGRLVIVVLIGVSVAWIPVLQGSNSGQLFIYMQSVTSSLAPPVTAIFILGIFWRRANEQGAFWGLMAGLVVGALRLVLEFLYPEPPCGQIDTRPAPLRSLHYLHFAIALFLLTCAVMAAGSLLSPPPQQRQIENLTWWTLAPNWSLGTKTGDGQTPQKRAFWARVCNVNAIFLMCVNIFFYAYFA" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/65037", "id": "65037", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Slc5a10", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Y", "alt_nt": "null", "chr_id": "17", "ref_nt": "A", "chr_pos": "18960605T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766605517", "id": "rs766605517", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766605517", "id": "rs766605517", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs766605517#frequency_tab", "id": "rs766605517", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs766605517", "id": "rs766605517", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 136, "keywords": [ "ebi", "germline" ], "end_pos": 136, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLS->NLS)." }, { "sequence_org": "L", "start_pos": 201, "alt_nt": "C", "chr_id": "17", "ref_nt": "T", "chr_pos": "18872697", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJK1", "id": "A0PJK1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 201, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "I", "alt_nt": "null", "chr_id": "17", "ref_nt": "A", "chr_pos": "18969408T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201844800", "id": "rs201844800", "database": "dbSNP" }, { "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201844800", "id": "rs201844800", "database": "1000Genomes" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201844800", "id": "rs201844800", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs201844800#frequency_tab", "id": "rs201844800", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs201844800", "id": "rs201844800", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 209, "keywords": [ "ebi", "germline" ], "end_pos": 209, "minor_allelic_frequency": "7.99E-4", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILT->NLT)." }, { "sequence_org": "I", "start_pos": 315, "alt_nt": "G", "chr_id": "17", "ref_nt": "A", "chr_pos": "18880263", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJK1", "id": "A0PJK1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 315, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "alt_nt": "null", "chr_id": "17", "ref_nt": "A", "chr_pos": "19013481G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370149434", "id": "rs370149434", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370149434", "id": "rs370149434", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs370149434#frequency_tab", "id": "rs370149434", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs370149434", "id": "rs370149434", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 352, "keywords": [ "ebi", "germline" ], "end_pos": 352, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIA->NIT)." }, { "sequence_org": "S", "start_pos": 404, "alt_nt": "C", "chr_id": "17", "ref_nt": "T", "chr_pos": "18918481", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJK1", "id": "A0PJK1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 404, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 408, "alt_nt": "G", "chr_id": "17", "ref_nt": "A", "chr_pos": "18918494", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJK1", "id": "A0PJK1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "G", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 408, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 422, "alt_nt": "A", "chr_id": "17", "ref_nt": "G", "chr_pos": "18922759", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJK1", "id": "A0PJK1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "D", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 422, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "T", "alt_nt": "null", "chr_id": "17", "ref_nt": "A", "chr_pos": "19019521C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756375395", "id": "rs756375395", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756375395", "id": "rs756375395", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs756375395", "id": "rs756375395", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 447, "keywords": [ "ebi", "germline" ], "end_pos": 447, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS)." }, { "sequence_org": "A", "start_pos": 472, "alt_nt": "T", "chr_id": "17", "ref_nt": "G", "chr_pos": "18923029", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJK1", "id": "A0PJK1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "S", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 472, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "null", "chr_id": "17", "ref_nt": "G", "chr_pos": "18952216A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374428102", "id": "rs374428102", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374428102", "id": "rs374428102", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs374428102", "id": "rs374428102", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "S", "start_pos": 4, "keywords": [ "ebi", "germline" ], "end_pos": 4, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST)." }, { "sequence_org": "N", "alt_nt": "null", "chr_id": "17", "ref_nt": "T", "chr_pos": "18959238A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148178887", "id": "rs148178887", "database": "dbSNP" }, { "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148178887", "id": "rs148178887", "database": "1000Genomes" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148178887", "id": "rs148178887", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs148178887#frequency_tab", "id": "rs148178887", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs148178887", "id": "rs148178887", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "I", "start_pos": 96, "keywords": [ "ebi", "germline" ], "end_pos": 96, "minor_allelic_frequency": "9.98E-4", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT)." }, { "sequence_org": "T", "alt_nt": "null", "chr_id": "17", "ref_nt": "T", "chr_pos": "18959608C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764434936", "id": "rs764434936", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764434936", "id": "rs764434936", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs764434936#frequency_tab", "id": "rs764434936", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs764434936", "id": "rs764434936", "database": "gnomAD" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22722829", "id": "22722829", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22895193", "id": "22895193", "database": "PubMed" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "M", "start_pos": 98, "keywords": [ "ebi", "somatic" ], "end_pos": 98, "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAM)." } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "ac": "NP_001035915.1", "name": "sodium/glucose cotransporter 5 isoform 2", "summary": "This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005412", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "glucose:sodium symporter activity", "id": "GO:0005412" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015370", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "solute:sodium symporter activity", "id": "GO:0015370" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "pmid": "19056867", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "extracellular exosome", "id": "GO:0070062" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "pmid": "23533145", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "extracellular exosome", "id": "GO:0070062" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "sodium ion transport", "id": "GO:0006814" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008645", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "name": "hexose transmembrane transport", "id": "GO:0008645" } ], "total": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PJK1", "type": "synonym", "resource": "RefSeq", "name": "SGLT-5; SGLT5" }, { "url": "https://www.uniprot.org/uniprot/A0PJK1", "type": "synonym", "resource": "UniProtKB", "name": "SGLT5" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PJK1", "type": "synonym", "resource": "RefSeq", "name": "SLC5A10" }, { "url": "https://www.uniprot.org/uniprot/A0PJK1", "type": "recommended", "resource": "UniProtKB", "name": "SLC5A10" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025", "id": "ENSG00000154025", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJK1", "id": "A0PJK1", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A10", "id": "SLC5A10", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/125206", "id": "125206", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23155", "id": "23155", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001734", "id": "IPR001734", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018212", "id": "IPR018212", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR038377", "id": "IPR038377", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:125206", "id": "hsa:125206", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/618636", "id": "618636", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A0PJK1", "id": "NX_A0PJK1", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/CWTDLIQ/", "id": "CWTDLIQ", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=243316at2759", "id": "243316at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00474", "id": "PF00474", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A0PJK1", "id": "A0PJK1", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A0PJK1", "id": "PR_A0PJK1", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200", "id": "R-HSA-189200", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035915.1", "id": "NP_001035915.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0PJK1", "id": "A0PJK1", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJK1", "id": "A0PJK1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJK1", "id": "A0PJK1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": 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"Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000154025", "id": "ENSG00000154025", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1", "name": "SLC5A10", "locus": { "end_pos": 19022595, "strand": "+", "start_pos": 18950345, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000154025", "id": "ENSG00000154025", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0PJK1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Na(+)/glucose cotransporter 5" }, { "url": "https://www.uniprot.org/uniprot/A0PJK1#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Sodium/glucose cotransporter 5" }, { "url": "https://www.uniprot.org/uniprot/A0PJK1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Solute carrier family 5 member 10" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PJK1", "type": "synonym", "resource": "RefSeq", "name": "sodium/glucose cotransporter 5 isoform 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PJK1", "type": "synonym", "resource": "RefSeq", "name": "solute carrier family 5 (sodium/glucose cotransporter), member 10; Na(+)/glucose cotransporter 5; sodium/glucose cotransporter 5; solute carrier family 5 (sodium/sugar cotransporter), member 10" } ] }