{ "uniprot_canonical_ac": "P52792-1", "uniprot_ac": "P52792", "uniprot_id": "HXK4_MOUSE", "mass": { "chemical_mass": 52089.0, "monoisotopic_mass": 52089.0 }, "refseq": { "ac": "NP_001274315", "name": "hexokinase-4 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315" }, "gene_names": [ { "name": "Gck", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P52792", "id": "P52792" }, { "name": "Gck", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315", "id": "NP_001274315" }, { "name": "Gk; GLK; Gls006; HK4; HKIV; Hlb62; HXKP; MODY2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315", "id": "NP_001274315" }, { "name": "Gk", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P52792", "id": "P52792" } ], "protein_names": [ { "name": "Hexokinase-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P52792" }, { "name": "2.7.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52792" }, { "name": "Glucokinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52792" }, { "name": "HK IV; hexokinase-4; hexokinase-D; hexokinase type IV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315", "id": "NP_001274315" }, { "name": "HK IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52792" }, { "name": "HK4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52792" }, { "name": "Hexokinase type IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52792" }, { "name": "Hexokinase-D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P52792" }, { "name": "hexokinase-4 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315", "id": "NP_001274315" } ], "function": [ { "annotation": "Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively) (PubMed:8530440). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant (By similarity). Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues (PubMed:8530440, PubMed:9867845). Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change its enzymatic activity within the physiological range of glucose concentrations, GCK acts as a glucose sensor in the pancreatic beta cell (PubMed:8530440, PubMed:9867845). In pancreas, plays an important role in modulating insulin secretion (PubMed:8530440). In liver, helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage (PubMed:9867845). Required to provide D-glucose 6-phosphate for the synthesis of glycogen (PubMed:9867845). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792#function" }, { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprot/P17712#function" }, { "database": "UniProtKB", "id": "P35557", "url": "https://www.uniprot.org/uniprot/P35557#function" }, { "database": "PubMed", "id": "9867845", "url": "https://glygen.org/publication/PubMed/9867845" }, { "database": "PubMed", "id": "8530440", "url": "https://glygen.org/publication/PubMed/8530440" } ] }, { "annotation": "MAP4K3/GLK inhibits Treg differentiation by direct phosphorylating IKKbeta and inducing IKKbeta-mediated FoxO1 nuclear export and Foxp3 downregulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001274315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315" }, { "database": "PubMed", "id": "35966593", "url": "https://glygen.org/publication/PubMed/35966593" } ] } ], "disease": [ { "disease_id": "DOID:0050524", "recommended_name": { "id": "DOID:0050524", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050524", "name": "maturity-onset diabetes of the young", "description": "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects." }, "synonyms": [ { "id": "DOID:0050524", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050524", "name": "MODY", "description": "" }, { "id": "DOID:0050524", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050524", "name": "Mason-type diabetes", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity-onset diabetes of the young", "description": "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "MODY", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "Mason-type diabetes", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity onset diabetes of the young", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity-onset diabetes of the young", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity-onset diabetes of the young (disease)", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "Mason type diabetes", "description": "" } ], "evidence": [ { "id": "0050524", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "disease_id": "DOID:0060639", "recommended_name": { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene." }, "synonyms": [ { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060639", "name": "PDMI", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060639", "name": "PNDM", "description": "" }, { "id": "DOID:0060639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060639", "name": "permanent diabetes mellitus of infancy", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "permanent neonatal diabetes mellitus 1", "description": "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PNDM1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "diabetes mellitus, permanent neonatal 1", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "PDMI", "description": "" }, { "id": "MONDO:0100165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100165", "name": "diabetes mellitus, permanent, of infancy", "description": "" }, { "id": "MIM:606176", "resource": "MIM", "url": "https://www.omim.org/entry/606176", "name": "Diabetes mellitus, permanent neonatal, 1", "description": "Diabetes mellitus, permanent neonatal, 1" } ], "evidence": [ { "id": "0060639", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ] }, { "disease_id": "DOID:0070216", "recommended_name": { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070216", "name": "familial hyperinsulinemic hypoglycemia 3", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070216", "name": "HHF3", "description": "" }, { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070216", "name": "hyperinsulinism due to glucokinase deficiency", "description": "" }, { "id": "DOID:0070216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070216", "name": "hyperinsulinemic hypoglycemia due to glucokinase deficiency", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinism due to glucokinase deficiency", "description": "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia due to glucokinase deficiency", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia, familial, type 3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "HHF3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia familial 3", "description": "" }, { "id": "MONDO:0011236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011236", "name": "hyperinsulinemic hypoglycemia, familial, 3", "description": "" }, { "id": "MIM:602485", "resource": "MIM", "url": "https://www.omim.org/entry/602485", "name": "Hyperinsulinemic hypoglycemia, familial, 3", "description": "Hyperinsulinemic hypoglycemia, familial, 3" } ], "evidence": [ { "id": "0070216", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070216" } ] }, { "disease_id": "DOID:0111100", "recommended_name": { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111100", "name": "maturity-onset diabetes of the young type 2", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13." }, "synonyms": [ { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111100", "name": "MODY glucokinase-related", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111100", "name": "MODY type 2", "description": "" }, { "id": "DOID:0111100", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111100", "name": "MODY2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young type 2", "description": "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "GCK maturity-onset diabetes of the young (disease)", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "GCK-associated diabetes mellitus", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY 2 monogenic diabetes type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY glucokinase-related", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY, type II", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "glucokinase-associated diabetes mellitus", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity onset diabetes of the Young, type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young (disease) caused by mutation in GCK", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY, glucokinase-related", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "MODY, type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "diabetes mellitus MODY type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "maturity-onset diabetes of the young, type 2", "description": "" }, { "id": "MONDO:0007453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007453", "name": "type 2 maturity-onset diabetes of the young", "description": "" }, { "id": "MIM:125851", "resource": "MIM", "url": "https://www.omim.org/entry/125851", "name": "Maturity-onset diabetes of the young 2", "description": "Maturity-onset diabetes of the young 2" } ], "evidence": [ { "id": "0111100", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111100" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11714", "recommended_name": { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy." }, "synonyms": [ { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "GDM", "description": "" }, { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "Gestational diabetes mellitus", "description": "" }, { "id": "DOID:11714", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11714", "name": "Maternal gestational diabetes mellitus", "description": "" } ], "evidence": [ { "id": "11714", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ] }, { "disease_id": "DOID:13317", "recommended_name": { "id": "DOID:13317", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13317", "name": "hyperinsulinemic hypoglycemia", "description": "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." }, "synonyms": [ { "id": "DOID:13317", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13317", "name": "Islet cell hyperplasia", "description": "" }, { "id": "DOID:13317", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13317", "name": "nesidioblastosis", "description": "" }, { "id": "DOID:13317", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13317", "name": "persistent hyperinsulinemia hypoglycemia of infancy", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinemic hypoglycemia, familial, 1", "description": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "ABCC8 hyperinsulinemic hypoglycemia (disease)", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinemic hypoglycemia due to SUR1 deficiency", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinemic hypoglycemia, familial, 1", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinemic hypoglycemia, familial, type 1", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "HHF1", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "Nesidioblastosis of pancreas", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinism, congenital", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hyperinsulinism, familial, with pancreatic Nesidioblastosis", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "hypoglycemia, hyperinsulinemic, of infancy", "description": "" }, { "id": "MONDO:0009734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009734", "name": "persistent hyperinsulinemic hypoglycemia of infancy", "description": "" }, { "id": "MIM:256450", "resource": "MIM", "url": "https://www.omim.org/entry/256450", "name": "Hyperinsulinemic hypoglycemia, familial, 1", "description": "Hyperinsulinemic hypoglycemia, familial, 1" } ], "evidence": [ { "id": "13317", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13317" } ] }, { "disease_id": "DOID:2018", "recommended_name": { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinism", "description": "" }, "synonyms": [ { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinemia", "description": "" } ], "evidence": [ { "id": "2018", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:4194", "recommended_name": { "id": "DOID:4194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4194", "name": "glucose metabolism disease", "description": "" }, "synonyms": [ { "id": "DOID:4194", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4194", "name": "disorder of glucose metabolism", "description": "" } ], "evidence": [ { "id": "4194", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ] }, { "disease_id": "DOID:4195", "recommended_name": { "id": "DOID:4195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4195", "name": "hyperglycemia", "description": "" }, "synonyms": [], "evidence": [ { "id": "4195", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ] }, { "disease_id": "DOID:9351", "recommended_name": { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both." }, "synonyms": [ { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes", "description": "" } ], "evidence": [ { "id": "9351", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9452", "recommended_name": { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes." }, "synonyms": [ { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "SLD", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "fatty liver disease", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Fatty change of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Steatosis of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "alcoholic fatty liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic lipidosis", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "White liver disease", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatal neonatal hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty liver disease, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty metamorphosis of viscera", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "steatosis of liver", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis", "description": "" } ], "evidence": [ { "id": "9452", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] }, { "disease_id": "DOID:9993", "recommended_name": { "id": "DOID:9993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose." }, "synonyms": [ { "id": "DOID:9993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9993", "name": "Hypoglycaemia", "description": "" } ], "evidence": [ { "id": "9993", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": 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"https://www.ncbi.nlm.nih.gov/gene/103988", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR001312", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001312", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019807", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019807", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022672", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022672", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022673", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022673", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043129", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043129", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:103988", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:103988", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1270854", "url": "http://www.informatics.jax.org/marker/MGI:1270854", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "P52792", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52792", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ADCVQQF", "url": "https://omabrowser.org/oma/group/ADCVQQF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5481886at2759", "url": "http://www.orthodb.org/?query=5481886at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19443", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19443", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19443:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19443:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00349", "url": "http://pfam.xfam.org/family/PF00349", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03727", "url": "http://pfam.xfam.org/family/PF03727", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P52792", "url": "http://purl.obolibrary.org/obo/PR_P52792", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001274315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "11028", "url": "https://www.rhea-db.org/rhea/11028", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "16125", "url": "https://www.rhea-db.org/rhea/16125", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "17825", "url": "https://www.rhea-db.org/rhea/17825", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "22740", "url": "https://www.rhea-db.org/rhea/22740", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F6V339", "url": "https://www.uniprot.org/uniprot/F6V339", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6V339-1", "url": "https://www.uniprot.org/uniprot/F6V339-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P52792-1", "url": "https://www.uniprot.org/uniprot/P52792-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P52792-2", "url": "https://www.uniprot.org/uniprot/P52792-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLDDRARMEATKKEKVEQILAEFQLQEEDLKKVMSRMQKEMDRGLKLETHQEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEAGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNNIVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDRQCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGNSGELDEFLLEYDRMVDESSVNPGQQLYEKIIGGKYMGELVRLVLLKLVEENLLFHGEASEQLRTRGAFETRFVSQVESDSGDRRQILNILSTLGLRPSVADCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPNCEITFIESEEGSGRGAALVSAVACKKACMLGQ", "length": 465, "header": "sp|P52792-1|HXK4_MOUSE Isoform 1 of Hexokinase-4 OS=Mus musculus OX=10090 GN=Gck PE=1 SV=1 CANONICAL=P52792-1" }, "isoforms": [ { "isoform_ac": "F6V339-1", "url": "", "sequence": { "sequence": "XGQPPPSLALQPPGLQGRLQGRGFQLQAFVSRSCLILPGPGILNIYCSLGFKERFHASVRRLTPNCEITFIESEEGSGRGAALVSAVACKKACMLGQ", "length": 97, "header": "tr|F6V339-1|HXK4_MOUSE Computationally mapped isoform of Hexokinase-4 OS=Mus musculus OX=10090 GN=Gck PE=1 SV=1 CANONICAL=P52792-1" }, "locus": { "chromosome": "11", "start_pos": 5852087, "end_pos": 5851672, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000125434.2", "url": "https://www.ensembl.org/id/ENSMUST00000125434.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000123016.2", "url": "https://www.ensembl.org/id/ENSMUSP00000123016.2" } ] } }, { "isoform_ac": "P52792-1", "url": "", "sequence": { "sequence": "MLDDRARMEATKKEKVEQILAEFQLQEEDLKKVMSRMQKEMDRGLKLETHQEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEAGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNNIVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDRQCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGNSGELDEFLLEYDRMVDESSVNPGQQLYEKIIGGKYMGELVRLVLLKLVEENLLFHGEASEQLRTRGAFETRFVSQVESDSGDRRQILNILSTLGLRPSVADCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPNCEITFIESEEGSGRGAALVSAVACKKACMLGQ", "length": 465, "header": "sp|P52792-1|HXK4_MOUSE Isoform 1 of Hexokinase-4 OS=Mus musculus OX=10090 GN=Gck PE=1 SV=1 CANONICAL=P52792-1" }, "locus": { "chromosome": "11", "start_pos": 5899599, "end_pos": 5851673, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000102920", "url": "https://www.ensembl.org/id/ENSMUST00000102920" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000099984", "url": "https://www.ensembl.org/id/ENSMUSP00000099984" } ] } }, { "isoform_ac": "P52792-2", "url": "", "sequence": { "sequence": "MAVDTTRRGAQSLTLVEQILAEFQLQEEDLKKVMSRMQKEMDRGLKLETHQEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEAGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNNIVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDRQCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGNSGELDEFLLEYDRMVDESSVNPGQQLYEKIIGGKYMGELVRLVLLKLVEENLLFHGEASEQLRTRGAFETRFVSQVESDSGDRRQILNILSTLGLRPSVADCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPNCEITFIESEEGSGRGAALVSAVACKKACMLGQ", "length": 465, "header": "sp|P52792-2|HXK4_MOUSE Isoform 2 of Hexokinase-4 OS=Mus musculus OX=10090 GN=Gck PE=1 SV=1 CANONICAL=P52792-1" }, "locus": { "chromosome": "11", "start_pos": 5865011, "end_pos": 5851673, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000109822", "url": "https://www.ensembl.org/id/ENSMUST00000109822" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000105447", "url": "https://www.ensembl.org/id/ENSMUSP00000105447" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P52792", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52792" }, { "id": "27520373", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27520373" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of glucokinase regulatory protein-deficient mice.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Li G., Grimsby J., Kaur S., Magnuson M.A., Matschinsky F.M., Shiota C., Grippo J.F., Magram J., Coffey J.W., Dvorozniak M.T.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "10713097", "url": "https://glygen.org/publication/PubMed/10713097" } ] }, { "title": "Expression of normal and novel glucokinase mRNAs in anterior pituitary and islet cells.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Newgard C.B., Hughes S.D., Cassidy L., Milburn J.L., Quaade C.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "1999433", "url": "https://glygen.org/publication/PubMed/1999433" } ] }, { "title": "Antagonism of peripheral hepatic cannabinoid receptor-1 improves liver lipid metabolism in mice: evidence from cultured explants.", "journal": "Hepatology", "date": "2012", "authors": "Verges B., Jourdan T., Degrace P., Demizieux L., Djaouti L., Gaba L., Gresti J.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "21987372", "url": "https://glygen.org/publication/PubMed/21987372" } ] }, { "title": "Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner.", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Hofmeister-Brix A, Kollmann K, Langer S, Schultz J, Lenzen S, Baltrusch S", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "24187134", "url": "https://glygen.org/publication/PubMed/24187134" } ] }, { "title": "Glucokinase expression is regulated by glucose through O-GlcNAc glycosylation.", "journal": "Biochemical and biophysical research communications", "date": "2016", "authors": "Baldini SF, Steenackers A, Olivier-Van Stichelen S, Mir AM, Mortuaire M, Lefebvre T, Guinez C", "evidence": [ { "database": "O-GlcNAc Database", "id": "P52792", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52792" } ], "reference": [ { "type": "PubMed", "id": "27520373", "url": "https://glygen.org/publication/PubMed/27520373" } ] }, { "title": "MAP4K3/GLK inhibits Treg differentiation by direct phosphorylating IKKbeta and inducing IKKbeta-mediated FoxO1 nuclear export and Foxp3 downregulation.", "journal": "Theranostics", "date": "2022", "authors": "Chi JN, Yang JY, Hsueh CH, Tsai CY, Chuang HC, Tan TH", "evidence": [ { "database": "RefSeq", "id": "NP_001274315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274315" } ], "reference": [ { "type": "PubMed", "id": "35966593", "url": "https://glygen.org/publication/PubMed/35966593" } ] }, { "title": "Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene.", "journal": "J. Biol. Chem.", "date": "1995", "authors": "Bali D, Svetlanov A, Lee HW, Fusco-DeMane D, Leiser M, Li B, Barzilai N, Surana M, Hou H, Fleischer N, et al.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "7665557", "url": "https://glygen.org/publication/PubMed/7665557" } ] }, { "title": "Pancreatic beta-cell-specific targeted disruption of glucokinase gene. Diabetes mellitus due to defective insulin secretion to glucose.", "journal": "J. Biol. Chem.", "date": "1995", "authors": "Kamada N., Takahashi N., Ito K., Suzuki H., Kasai H., Yasuda K., Terauchi Y., Sakura H., Iwamoto K., Ueda O.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "8530440", "url": "https://glygen.org/publication/PubMed/8530440" } ] }, { "title": "Cloning and characterization of the mouse glucokinase gene locus and identification of distal liver-specific DNase I hypersensitive sites.", "journal": "Genomics", "date": "1995", "authors": "Granner D.K., Girard J., Magnuson M.A., Decaux J.F., Gouhot B., Niswender K.D., Petterpher C.C., Postic C., Shelton K.D.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "8575768", "url": "https://glygen.org/publication/PubMed/8575768" } ] }, { "title": "Partial structure of the mouse glucokinase gene.", "journal": "Genomics", "date": "1995", "authors": "Chan L., Nakamuta M., Sullivan M., Oka K., Ishimura-Oka K., Chu M.J.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "8575769", "url": "https://glygen.org/publication/PubMed/8575769" } ] }, { "title": "Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Chen Y., Shiota M., Magnuson M.A., Moates J.M., Lindner J., Jetton T.L., Niswender K.D., Postic C., Shelton K.D., Cherrington A.D.", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "reference": [ { "type": "PubMed", "id": "9867845", "url": "https://glygen.org/publication/PubMed/9867845" } ] } ], "pathway": [ { "id": "mmu:103988", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:103988", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P04807-1", "protein_name": "Hexokinase-2", "gene_name": "HXK2", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": 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"https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "fructokinase activity", "id": "GO:0008865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008865", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "mannokinase activity", "id": "GO:0019158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019158", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "hexokinase activity", "id": "GO:0004396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004396", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 29, "go_terms": [ { "name": "NADP metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "detection of glucose", "id": "GO:0051594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051594", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "negative regulation of epinephrine secretion", "id": "GO:0032811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032811", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "second-messenger-mediated signaling", "id": "GO:0019932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019932", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": 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"id": "GO:0006003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006003", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "mannose metabolic process", "id": "GO:0006013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006013", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902659", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprot/P52792" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 166, "end_pos": 168, "annotation": "n_glycosylation_sequon" }, { "start_pos": 204, "end_pos": 206, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "11028", "name": "", "equation": "ATP + D-mannose = ADP + D-mannose 6-phosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05708-1", "P17712-1", "P35557-1", "P19367-1", "P52792-1", "P17710-1", "Q9NFT9-1", "Q9NFT7-1" ], "evidence": [ { "id": "11028", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11028" } ] }, { "id": "16125", "name": "", "equation": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+)", "summary": "", "cellular_location": "", 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"equation": "ATP + D-hexose = ADP + D-hexose 6-phosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05708-1", "P17712-1", "P27881-1", "P27926-1", "M0R3X7-1", "P35557-1", "Q2TB90-1", "P52790-1", "P19367-1", "P52789-1", "P52792-1", "Q91W97-1", "P17710-1", "O08528-1", "Q3TRM8-1", "P04806-1", "P04807-1", "Q9NFT9-1", "Q9NFT7-1", "Q9W330-1", "Q7JYW9-1" ], "evidence": [ { "id": "22740", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/22740" } ] }, { "id": "R-MMU-9625102", "name": "Gck gene expression is inhibited by Foxo1, Sin3a and Hdac", "equation": "", "summary": "In mouse hepatocytes, Foxo1, together with Sin3a and histone deacetylases (Hdacs), directly represses transcription of the Gck gene, encoding glucokinase. Insulin interferes with Foxo1-mediated repression of Gck expression, resulting in upregulation of Gck and stimulation of lipogenesis (Langlet et al. 2017).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-MMU-9625110" ], "output_participant_list": [ "R-MMU-9625144" ], "enzyme_list": [ "P70288-1", "P52792-1", "O09106-1" ], "evidence": [ { "id": "R-MMU-9625102", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-9625102" } ] } ], "reaction_participants": [ { "participant_id": "R-MMU-9625110", "participant_name": "Gck gene [nucleoplasm]", "crossref": [ { "id": "ENSMUSG00000041798", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-MMU-9625144", "participant_name": "Gck [cytosol]", "crossref": [ { "id": "P52792", "database": "UniProt", "url": "" }, { "id": "ENSMUST00000109823", "database": "Ensembl", "url": "" }, { "id": "HXK4_MOUSE", "database": "ZINC - Substances", "url": "" }, { "id": "ENSMUST00000102920", "database": "Ensembl", "url": "" }, { "id": "HXK4_MOUSE", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "ENSMUSG00000041798", "database": "Ensembl", "url": "" }, { "id": "1270854", "database": "MGI", "url": "" }, { "id": "ENSMUSP00000099984", "database": "Ensembl", "url": "" }, { "id": "ENSMUSP00000105447", "database": "Ensembl", "url": "" }, { "id": "ENSMUSP00000105448", "database": "Ensembl", "url": "" }, { "id": "ENSMUST00000109822", "database": "Ensembl", "url": "" }, { "id": "NP_034422.2", "database": "RefSeq", "url": "" }, { "id": "P52792", "database": "PRO", "url": "" }, { "id": "P52792", "database": "ZINC target", "url": "" }, { "id": "NP_001274315.1", "database": "RefSeq", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "M0R3X7", "gene_name": "Hkdc1", "activity": [ { "ec_number": "2.7.1.1", "activity": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+).", "evidence": [ { "id": "M0R3X7", "database": "UniProtKB", "url": 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