{ "uniprot_canonical_ac": "P11168-1", "uniprot_ac": "P11168", "uniprot_id": "GTR2_HUMAN", "mass": { "chemical_mass": 57490.0, "monoisotopic_mass": 57490.0 }, "refseq": { "ac": "NP_000331", "name": "solute carrier family 2, facilitated glucose transporter member 2 isoform 1", "summary": "This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" }, "gene_names": [ { "name": "SLC2A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11168", "id": "P11168" }, { "name": "GLUT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331", "id": "NP_000331" }, { "name": "GLUT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11168", "id": "P11168" }, { "name": "SLC2A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331", "id": "NP_000331" } ], "protein_names": [ { "name": "Solute carrier family 2, facilitated glucose transporter member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11168" }, { "name": "GLUT-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11168" }, { "name": "Glucose transporter type 2, liver", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11168" }, { "name": "glucose transporter type 2, liver; solute carrier family 2 (facilitated glucose transporter), member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331", "id": "NP_000331" }, { "name": "solute carrier family 2, facilitated glucose transporter member 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331", "id": "NP_000331" } ], "function": [ { "annotation": "Association Between the SLC2A2 Gene rs1499821 Polymorphism and Caries Susceptibility.", "evidence": [ { "database": "RefSeq", "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" }, { "database": "PubMed", "id": "37257183", "url": "https://glygen.org/publication/PubMed/37257183" } ] }, { "annotation": "Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant beta cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" }, { "database": "PubMed", "id": "34035238", "url": "https://glygen.org/publication/PubMed/34035238" } ] }, { "annotation": "Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" }, { "database": "PubMed", "id": "36465606", "url": "https://glygen.org/publication/PubMed/36465606" } ] }, { "annotation": "Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" }, { "database": "PubMed", "id": "34828390", "url": "https://glygen.org/publication/PubMed/34828390" } ] }, { "annotation": "Facilitative hexose transporter that mediates the transport of glucose, fructose and galactose (PubMed:8027028, PubMed:16186102, PubMed:23396969, PubMed:28083649, PubMed:8457197). Likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell (PubMed:8027028). May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney (PubMed:3399500). Also able to mediate the transport of dehydroascorbate (PubMed:23396969).", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168#function" }, { "database": "PubMed", "id": "3399500", "url": "https://glygen.org/publication/PubMed/3399500" }, { "database": "PubMed", "id": "16186102", "url": "https://glygen.org/publication/PubMed/16186102" }, { "database": "PubMed", "id": "28083649", "url": "https://glygen.org/publication/PubMed/28083649" }, { "database": "PubMed", "id": "23396969", "url": "https://glygen.org/publication/PubMed/23396969" }, { "database": "PubMed", "id": "8027028", "url": "https://glygen.org/publication/PubMed/8027028" }, { "database": "PubMed", "id": "8457197", "url": "https://glygen.org/publication/PubMed/8457197" } ] }, { "annotation": "Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter.", "evidence": [ { "database": "RefSeq", "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" }, { "database": "PubMed", "id": "11978637", "url": "https://glygen.org/publication/PubMed/11978637" } ] }, { "annotation": "Identification of new GLUT2-selective inhibitors through in silico ligand screening and validation in eukaryotic expression systems. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" }, { "database": "PubMed", "id": "34215797", "url": "https://glygen.org/publication/PubMed/34215797" } ] }, { "annotation": "This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331" } ] } ], "disease": [ { "disease_id": "MONDO:0009216", "recommended_name": { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogen storage disease due to GLUT2 deficiency", "description": "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." }, "synonyms": [ { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "Bickel-Fanconi glycogenosis", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "FBS", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "Fanconi Bickel syndrome", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "Fanconi syndrome with intestinal malabsorption and galactose intolerance", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "Fanconi-Bickel disease", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "Fanconi-Bickel syndrome", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "GSD due to GLUT2 deficiency", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogen storage disease due to GLUT2 deficiency", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogenosis due to GLUT2 deficiency", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "GLUT2 deficiency", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "GSD type 11", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "GSD type XI", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogen storage disease 11", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogen storage disease XI", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogen storage disease type 11", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogen storage disease type XI", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogenosis Fanconi EXACT", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "glycogenosis, Fanconi type", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "hepatic glycogenosis with Fanconi nephropathy", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "hepatic glycogenosis with amino aciduria and glucosuria", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "hepatorenal glycogenosis with renal Fanconi syndrome", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "hepatorenal glycogenosis with renal fanconi syndrome", "description": "" }, { "id": "MONDO:0009216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009216", "name": "pseudo-phlorizin diabetes", "description": "" }, { "id": "MIM:227810", "resource": "MIM", "url": "https://www.omim.org/entry/227810", "name": "Fanconi-Bickel syndrome", "description": "Fanconi-Bickel syndrome" } ], "evidence": [ { "id": "227810", "database": "MIM", "url": "https://www.omim.org/entry/227810" } ] } ], "snv": [ { "evidence": [ { "id": "P11168", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11168" } ], "glycoeffect": [], "start_pos": 183, "end_pos": 183, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "171007213", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A183", "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": "" } ] }, { "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": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs771182536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771182536" }, { "id": "rs771182536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771182536" }, { "id": "rs771182536", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771182536#frequency_tab" }, { "id": "rs771182536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771182536" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 196, "end_pos": 196, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IVT->NVT).", "chr_id": "3", "chr_pos": "171007173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746158263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746158263" 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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": "" }, { 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"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", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"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 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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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P11168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11168" } ], "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 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619098", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8981373", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8981373", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000331", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "34915", "url": "https://www.rhea-db.org/rhea/34915", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "60372", "url": "https://www.rhea-db.org/rhea/60372", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "60376", "url": "https://www.rhea-db.org/rhea/60376", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "60380", "url": "https://www.rhea-db.org/rhea/60380", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P11168", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0C4DH64", "url": "https://www.uniprot.org/uniprot/A0A0C4DH64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DH64-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DH64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J0E8", "url": "https://www.uniprot.org/uniprot/C9J0E8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J0E8-1", "url": "https://www.uniprot.org/uniprot/C9J0E8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBJ2", "url": "https://www.uniprot.org/uniprot/F8WBJ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBJ2-1", "url": "https://www.uniprot.org/uniprot/F8WBJ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11168-1", "url": "https://www.uniprot.org/uniprot/P11168-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11168-2", "url": "https://www.uniprot.org/uniprot/P11168-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV", "length": 524, "header": "sp|P11168-1|GTR2_HUMAN Isoform 1 of Solute carrier family 2, facilitated glucose transporter member 2 OS=Homo sapiens OX=9606 GN=SLC2A2 PE=1 SV=1 CANONICAL=P11168-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DH64-1", "url": "", "sequence": { "sequence": "MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGDTLGRANFRPGSYVYR", "length": 135, "header": "tr|A0A0C4DH64-1|GTR2_HUMAN Computationally mapped isoform of Solute carrier family 2, facilitated glucose transporter member 2 OS=Homo sapiens OX=9606 GN=SLC2A2 PE=1 SV=1 CANONICAL=P11168-1" }, "locus": { "chromosome": "3", "start_pos": 171026670, "end_pos": 171007230, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497642.5", "url": "https://www.ensembl.org/id/ENST00000497642.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418456.1", "url": "https://www.ensembl.org/id/ENSP00000418456.1" } ] } }, { "isoform_ac": "C9J0E8-1", "url": "", "sequence": { "sequence": "MYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEM", "length": 103, "header": "tr|C9J0E8-1|C9J0E8_HUMAN Computationally mapped isoform of Solute carrier family 2 member 2 OS=Homo sapiens OX=9606 GN=SLC2A2 PE=1 SV=1 CANONICAL=P11168-1" }, "locus": { "chromosome": "3", "start_pos": 171007240, "end_pos": 171005420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461867.1", "url": "https://www.ensembl.org/id/ENST00000461867.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000418888.1", "url": "https://www.ensembl.org/id/ENSP00000418888.1" } ] } }, { "isoform_ac": "F8WBJ2-1", "url": "", "sequence": { "sequence": "MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQNQSHVSSKHSVISWSSLDGVFKIGTISYTYNCWKKHIRTILWANFRPGSYVYR", "length": 89, "header": "tr|F8WBJ2-1|GTR2_HUMAN Computationally mapped isoform of Solute carrier family 2, facilitated glucose transporter member 2 OS=Homo sapiens OX=9606 GN=SLC2A2 PE=1 SV=1 CANONICAL=P11168-1" }, "locus": { "chromosome": "3", "start_pos": 171026670, "end_pos": 171007230, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469787.1", "url": "https://www.ensembl.org/id/ENST00000469787.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417918.1", "url": "https://www.ensembl.org/id/ENSP00000417918.1" } ] } }, { "isoform_ac": "P11168-1", "url": "", "sequence": { "sequence": "MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV", "length": 524, "header": "sp|P11168-1|GTR2_HUMAN Isoform 1 of Solute carrier family 2, facilitated glucose transporter member 2 OS=Homo sapiens OX=9606 GN=SLC2A2 PE=1 SV=1 CANONICAL=P11168-1" }, "locus": { "chromosome": "3", "start_pos": 171026670, "end_pos": 170997906, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000314251.8", "url": "https://www.ensembl.org/id/ENST00000314251.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000323568.3", "url": "https://www.ensembl.org/id/ENSP00000323568.3" } ] } }, { "isoform_ac": "P11168-2", "url": "", "sequence": { "sequence": "MHLNRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV", "length": 405, "header": "sp|P11168-2|GTR2_HUMAN Isoform 2 of Solute carrier family 2, facilitated glucose transporter member 2 OS=Homo sapiens OX=9606 GN=SLC2A2 PE=1 SV=1 CANONICAL=P11168-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 62, "start_aa": "Asn", "end_pos": 62, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn62", "evidence": [ { "id": "P11168", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11168#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 69, "start_aa": "Thr", "end_pos": 69, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr69", "evidence": [ { "id": "P11168", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 491, "end_pos": 491, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11168" }, { "database": "PubMed", "id": "8626492", "url": "https://glygen.org/publication/PubMed/8626492" } ], "site_lbl": "Ser491" }, { "start_pos": 491, "end_pos": 491, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P11168", "url": "http://phospho.elm.eu.org/byAccession/P11168.html" }, { "database": "iPTMnet", "id": "P11168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11168" }, { "database": "PubMed", "id": "8626492", "url": "https://glygen.org/publication/PubMed/8626492" } ], "site_lbl": "Ser491" }, { "start_pos": 503, "end_pos": 503, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11168" }, { "database": "PubMed", "id": "8626492", "url": "https://glygen.org/publication/PubMed/8626492" } ], "site_lbl": "Ser503" }, { "start_pos": 503, "end_pos": 503, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P11168", "url": "http://phospho.elm.eu.org/byAccession/P11168.html" }, { "database": "iPTMnet", "id": "P11168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11168" }, { "database": "PubMed", "id": "8626492", "url": "https://glygen.org/publication/PubMed/8626492" } ], "site_lbl": "Ser503" }, { "start_pos": 505, "end_pos": 505, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11168" }, { "database": "PubMed", "id": "8626492", "url": "https://glygen.org/publication/PubMed/8626492" } ], "site_lbl": "Ser505" }, { "start_pos": 505, "end_pos": 505, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P11168", "url": "http://phospho.elm.eu.org/byAccession/P11168.html" }, { "database": "iPTMnet", "id": "P11168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11168" }, { "database": "PubMed", "id": "8626492", "url": "https://glygen.org/publication/PubMed/8626492" } ], "site_lbl": "Ser505" }, { "start_pos": 523, "end_pos": 523, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P11168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11168" } ], "site_lbl": "Thr523" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells.", "journal": "Journal of molecular endocrinology", "date": "1999", "authors": "Miki T, Nagashima K, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10194514", "url": "https://glygen.org/publication/PubMed/10194514" } ] }, { "title": "Two regions of sulfonylurea receptor specify the spontaneous bursting and ATP inhibition of KATP channel isoforms.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Babenko AP, Gonzalez G, Bryan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10206966", "url": "https://glygen.org/publication/PubMed/10206966" } ] }, { "title": "Identification of the high-affinity tolbutamide site on the SUR1 subunit of the K(ATP) channel.", "journal": "Diabetes", "date": "1999", "authors": "Ashfield R, Gribble FM, Ashcroft SJ, Ashcroft FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10342826", "url": "https://glygen.org/publication/PubMed/10342826" } ] }, { "title": "Immunohistochemical detection of alpha1E voltage-gated Ca(2+) channel isoforms in cerebellum, INS-1 cells, and neuroendocrine cells of the digestive system.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1999", "authors": "Grabsch H, Pereverzev A, Weiergraber M, Schramm M, Henry M, Vajna R, Beattie RE, Volsen SG, Klockner U, Hescheler J, Schneider T", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10424882", "url": "https://glygen.org/publication/PubMed/10424882" } ] }, { "title": "The tolbutamide site of SUR1 and a mechanism for its functional coupling to K(ATP) channel closure.", "journal": "FEBS letters", "date": "1999", "authors": "Babenko AP, Gonzalez G, Bryan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10526167", "url": "https://glygen.org/publication/PubMed/10526167" } ] }, { "title": "Pancreatic beta-cell K(ATP) channel activity and membrane-binding studies with nateglinide: A comparison with sulfonylureas and repaglinide.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2000", "authors": "Hu S, Wang S, Fanelli B, Bell PA, Dunning BE, Geisse S, Schmitz R, Boettcher BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10773014", "url": "https://glygen.org/publication/PubMed/10773014" } ] }, { "title": "GLUT8, a novel member of the sugar transport facilitator family with glucose transport activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Doege H, Schurmann A, Bahrenberg G, Brauers A, Joost HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10821868", "url": "https://glygen.org/publication/PubMed/10821868" } ] }, { "title": "Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9).", "journal": "Genomics", "date": "2000", "authors": "Phay JE, Hussain HB, Moley JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10860667", "url": "https://glygen.org/publication/PubMed/10860667" } ] }, { "title": "Sulfonylurea receptor 1 and Kir6.2 expression in the novel human insulin-secreting cell line NES2Y.", "journal": "Diabetes", "date": "2000", "authors": "Macfarlane WM, O'Brien RE, Barnes PD, Shepherd RM, Cosgrove KE, Lindley KJ, Aynsley-Green A, James RF, Docherty K, Dunne MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10866047", "url": "https://glygen.org/publication/PubMed/10866047" } ] }, { "title": "Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice.", "journal": "Diabetes", "date": "2000", "authors": "Seino S, Iwanaga T, Nagashima K, Miki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "10868950", "url": "https://glygen.org/publication/PubMed/10868950" } ] }, { "title": "Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes.", "journal": "The Biochemical journal", "date": "2000", "authors": "Doege H, Bocianski A, Joost HG, Schurmann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10970791", "url": "https://glygen.org/publication/PubMed/10970791" } ] }, { "title": "A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.", "journal": "Human genetics", "date": "1999", "authors": "Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" }, { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10987651", "url": "https://glygen.org/publication/PubMed/10987651" } ] }, { "title": "Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.", "journal": "Pediatric research", "date": "2000", "authors": "Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" }, { "database": "Reactome", "id": "R-HSA-5619098", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619098" } ], "reference": [ { "type": "PubMed", "id": "11044475", "url": "https://glygen.org/publication/PubMed/11044475" } ] }, { "title": "Triggering and amplifying pathways of regulation of insulin secretion by glucose.", "journal": "Diabetes", "date": "2000", "authors": "Henquin JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11078440", "url": "https://glygen.org/publication/PubMed/11078440" } ] }, { "title": "Gliclazide modified release: from once-daily administration to 24-hour blood glucose control.", "journal": "Metabolism: clinical and experimental", "date": "2000", "authors": "Harrower A", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11078469", "url": "https://glygen.org/publication/PubMed/11078469" } ] }, { "title": "Renal Na(+)-glucose cotransporters.", "journal": "American journal of physiology. 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"common_name": "Mouse" }, { "uniprot_canonical_ac": "P39003-1", "protein_name": "High-affinity hexose transporter HXT6", "gene_name": "HXT6", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSQDAAIAEQTPVEHLSAVDSASHSVLSTPSNKAERDEIKAYGEGEEHEPVVEIPKRPASAYVTVSIMCIMIAFGGFVFGWDTGTISGFINQTDFIRRFGMKHKDGTNYLSKVRTGLIVSIFNIGCAIGGIILSKLGDMYGRKVGLIVVVVIYIIGIIIQIASINKWYQYFIGRIISGLGVGGIAVLSPMLISEVSPKHLRGTLVSCYQLMITAGIFLGYCTNFGTKNYSNSVQWRVPLGLCFAWALFMIGGMTFVPESPRYLAEVGKIEEAKRSIAVSNKVAVDDPSVLAEVEAVLAGVEAEKLAGNASWGELFSSKTKVLQRLIMGAMIQSLQQLTGDNYFFYYGTTIFKAVGLSDSFETSIVLGIVNFASTFVGIYVVERYGRRTCLLWGAASMTACMVVYASVGVTRLWPNGQDQPSSKGAGNCMIVFACFYIFCFATTWAPIPYVVVSETFPLRVKSKAMSIATAANWLWGFLIGFFTPFITGAINFYYGYVFMGCLVFMFFYVLLVVPETKGLTLEEVNTMWEEGVLPWKSASWVPPSRRGANYDAEEMAHDDKPLYKRMFSTK", "length": 570 }, "evidence": [ { "id": "P11168", "url": "https://omabrowser.org/oma/group/P11168/", "database": "OMA" } ], "common_name": "Yeast" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "dehydroascorbic acid transport", "id": "GO:0070837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070837", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "glucose import", "id": "GO:0046323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046323", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "glucose transmembrane transport", "id": "GO:1904659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904659", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "fructose transmembrane transport", "id": "GO:0015755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015755", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "galactose transmembrane transport", "id": "GO:0015757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015757", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "hexose transmembrane transporter activity", "id": "GO:0015149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015149", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "dehydroascorbic acid transmembrane transporter activity", "id": "GO:0033300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033300", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "fructose transmembrane transporter activity", "id": "GO:0005353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005353", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "glucose transmembrane transporter activity", "id": "GO:0005355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005355", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "D-glucose transmembrane transporter activity", "id": "GO:0055056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055056", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "galactose transmembrane transporter activity", "id": "GO:0005354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005354", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P11168", "url": "https://www.uniprot.org/uniprot/P11168" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "solute carrier family 2, facilitated glucose transporter member 2 O-glycosylated 1 (human)", "definition": "A solute carrier family 2, facilitated glucose transporter member 2 (human) that has been O-glycosylated at the residue equivalent to Thr-69 of the amino acid sequence represented by UniProtKB:P11168-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P11168-1, Thr-69, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054852", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054852" } ] } ], "site_annotation": [ { "start_pos": 297, "end_pos": 299, "annotation": "n_glycosylation_sequon" }, { "start_pos": 443, "end_pos": 445, "annotation": "n_glycosylation_sequon" }, { "start_pos": 62, "end_pos": 64, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "34915", "name": "", "equation": "D-galactose(in) = D-galactose(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "34915", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/34915" } ] }, { "id": "60372", "name": "", "equation": "D-fructose(out) = D-fructose(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "60372", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60372" } ] }, { "id": "60376", "name": "", "equation": "D-glucose(out) = D-glucose(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "60376", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60376" } ] }, { "id": "60380", "name": "", "equation": "L-dehydroascorbate(out) = L-dehydroascorbate(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "60380", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60380" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 62 ], "o_linked_sites": [ 69 ], "snv_sites": [ 5, 7, 34, 64, 69, 183, 196, 449, 501 ], "glycation_sites": [], "phosphorylation_sites": [ 491, 503, 505, 523 ], "sequon_annotation_sites": [ { "start_pos": 297, "end_pos": 299 }, { "start_pos": 443, "end_pos": 445 }, { "start_pos": 62, "end_pos": 64 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 136 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }