{ "uniprot_canonical_ac": "P13265-1", "uniprot_ac": "P13265", "uniprot_id": "GPC3_RAT", "mass": { "chemical_mass": 67049.0, "monoisotopic_mass": 67049.0 }, "refseq": { "ac": "NP_036906", "name": "glypican-3 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036906" }, "gene_names": [ { "name": "Gpc3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13265", "id": "P13265" }, { "name": "Gpc3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036906", "id": "NP_036906" }, { "name": "OCI-5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036906", "id": "NP_036906" } ], "protein_names": [ { "name": "Glypican-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13265" }, { "name": "Intestinal protein OCI-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13265" }, { "name": "glypican-3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036906", "id": "NP_036906" }, { "name": "proteoglycan GPC3; defective in Simpson-Golabi-Behmel overgrowth syndrome; intestinal protein OCI-5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036906", "id": "NP_036906" } ], "function": [ { "annotation": "Cell surface proteoglycan (By similarity). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled receptor to Wnt ligands (By similarity). Positively regulates the non-canonical Wnt signaling pathway (By similarity). Binds to CD81 which decreases the availability of free CD81 for binding to the transcriptional repressor HHEX, resulting in nuclear translocation of HHEX and transcriptional repression (By similarity). Inhibits the dipeptidyl peptidase activity of DPP4 (By similarity). Plays a role in limb patterning and skeletal development by controlling the cellular response to BMP4 (By similarity). Modulates the effects of growth factors BMP2, BMP7 and FGF7 on renal branching morphogenesis (By similarity). Required for coronary vascular development (By similarity). Plays a role in regulating cell movements during gastrulation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265#function" }, { "database": "UniProtKB", "id": "Q6V9Y8", "url": "https://www.uniprot.org/uniprot/Q6V9Y8#function" }, { "database": "UniProtKB", "id": "Q8CFZ4", "url": "https://www.uniprot.org/uniprot/Q8CFZ4#function" }, { "database": "UniProtKB", "id": "P51654", "url": "https://www.uniprot.org/uniprot/P51654#function" } ] }, { "annotation": "Cell surface proteoglycan.", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KBA2", "url": "https://www.uniprot.org/uniprot/A0A0G2KBA2#function" }, { "database": "UniProtKB", "id": "RU003519", "url": "https://www.uniprot.org/uniprot/RU003519#function" } ] } ], "disease": [ { "disease_id": "DOID:0060248", "recommended_name": { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "Simpson-Golabi-Behmel syndrome type 1", "description": "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26." }, "synonyms": [ { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "DGSX Golabi-Rosen syndrome", "description": "" }, { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "Golabi-Rosen syndrome", "description": "" }, { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "SGB syndrome", "description": "" }, { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "Sara Angers syndrome", "description": "" }, { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "Simpson dysmorphia syndrome", "description": "" }, { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "X-linked dysplasia gigantism syndrome", "description": "" }, { "id": "DOID:0060248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060248", "name": "bulldog syndrome", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Simpson-Golabi-Behmel syndrome type 1", "description": "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene." }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "DGSX Golabi-Rosen syndrome", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "GPC3 Simpson-Golabi-Behmel syndrome", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "SGBS1", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Simpson dysmorphia syndrome", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Simpson-Golabi-Behmel syndrome type 1", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "bulldog syndrome", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Golabi-Rosen syndrome", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Sgbs", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "Simpson-Golabi-Behmel syndrome, type 1", "description": "" }, { "id": "MONDO:0020602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020602", "name": "dysplasia gigantism syndrome, X-linked", "description": "" }, { "id": "MIM:312870", "resource": "MIM", "url": "https://www.omim.org/entry/312870", "name": "Simpson-Golabi-Behmel syndrome 1", "description": "Simpson-Golabi-Behmel syndrome 1" } ], "evidence": [ { "id": "0060248", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060248" } ] }, { "disease_id": "DOID:2129", "recommended_name": { "id": "DOID:2129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2129", "name": "atypical teratoid rhabdoid tumor", "description": "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system." }, "synonyms": [ { "id": "DOID:2129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2129", "name": "Atypical teratoid/rhabdoid tumor", "description": "" }, { "id": "DOID:2129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2129", "name": "Atypical teratoid/rhabdoid tumour", "description": "" }, { "id": "DOID:2129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2129", "name": "Rhabdoid tumor of the CNS", "description": "" }, { "id": "DOID:2129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2129", "name": "Rhabdoid tumour of the CNS", "description": "" }, { "id": "DOID:2129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2129", "name": "atypical teratoid rhabdoid tumour", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome 1", "description": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "SMARCB1 familial rhabdoid tumor", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "SMARCB1 familial rhabdoid tumour", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "familial rhabdoid tumor caused by mutation in SMARCB1", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "familial rhabdoid tumour caused by mutation in SMARCB1", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome 1", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome type 1", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "rhabdoid tumors, somatic", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "rhabdoid tumour predisposition syndrome type 1", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "At/RT", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "RTPS1", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "brain tumor, posterior fossa, of infancy, familial", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "malignant rhabdoid tumor, somatic", "description": "" }, { "id": "MONDO:0012252", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012252", "name": "teratoid tumor, atypical", "description": "" }, { "id": "MIM:609322", "resource": "MIM", "url": "https://www.omim.org/entry/609322", "name": "Rhabdoid tumor predisposition syndrome 1", "description": "Rhabdoid tumor predisposition syndrome 1" } ], "evidence": [ { "id": "2129", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2129" } ] }, { "disease_id": "DOID:2154", "recommended_name": { "id": "DOID:2154", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically located_in children." }, "synonyms": [ { "id": "DOID:2154", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2154", "name": "adult nephroblastoma", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms' tumor", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms' tumour", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "renal Wilms tumor", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "renal Wilms tumour", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor type 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, somatic", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, type 1, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumour type 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "WT1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "nephroblastoma", "description": "" }, { "id": "MIM:194070", "resource": "MIM", "url": "https://www.omim.org/entry/194070", "name": "Wilms tumor 1", "description": "Wilms tumor 1" } ], "evidence": [ { "id": "2154", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ] }, { "disease_id": "DOID:3596", "recommended_name": { "id": "DOID:3596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3596", "name": "placental site trophoblastic tumor", "description": "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells." }, "synonyms": [ { "id": "DOID:3596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3596", "name": "Placental-Site Gestational Trophoblastic neoplasm", "description": "" }, { "id": "DOID:3596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3596", "name": "placental site trophoblastic tumour", "description": "" } ], "evidence": [ { "id": "3596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3596" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", 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"https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:687", "recommended_name": { "id": "DOID:687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:687", "name": "hepatoblastoma", "description": "" }, "synonyms": [], "evidence": [ { "id": "687", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:687" } ] } ], "snv": [], 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"MAGTVRTACLLVAMLLGLGCLGQAQPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQMMNPGLPESVLDINECLRGARRDLKVFGSFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNGGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVARVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSVPKGKVVDKSLDEEGLESGDCGDDEDECIGSSGDGMMKVKNQLRFLAELAYDLDVDDAPGNKQHGNQKDNEITTSHNVGNMPSPLKILISVAIYVACFFFLVH", "length": 579, "header": "tr|A0A0G2KBA2-1|A0A0G2KBA2_RAT Computationally mapped isoform of Glypican 3 OS=Rattus norvegicus OX=10116 GN=Gpc3 PE=3 SV=2 CANONICAL=P13265-1" }, "locus": { "chromosome": "X", "start_pos": 132236669, "end_pos": 131869353, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000090442.2", "url": "https://www.ensembl.org/id/ENSRNOT00000090442.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000075712.2", "url": "https://www.ensembl.org/id/ENSRNOP00000075712.2" } ] } }, { "isoform_ac": "P13265-1", "url": "", "sequence": { "sequence": "MAGTVRTACLLVAMLLGLGCLGQAQPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQMMNPGLPESVLDINECLRGARRDLKVFGSFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNGGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVARVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSVPKGKVVDKSLDEEGLESGDCGDDEDECIGSSGDGMMKVKNQLRFLAELAYDLDVDDAPGNKQHGNQKDNEITTSHSVGNMPSPLKILISVAIYVACFFSWCTDLPCPCLCCPAAPCGPPT", "length": 597, "header": "sp|P13265-1|GPC3_RAT Isoform 1 of Glypican-3 OS=Rattus norvegicus OX=10116 GN=Gpc3 PE=1 SV=1 CANONICAL=P13265-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 123, "start_aa": "Asn", "end_pos": 123, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn123", "evidence": [ { "id": "P13265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13265#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 240, "start_aa": "Asn", "end_pos": 240, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn240", "evidence": [ { "id": "P13265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13265#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "evidence": [ { "id": "P13265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13265#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "start_pos": 494, "start_aa": "Ser", "end_pos": 494, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser494", "evidence": [ { "id": "P13265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13265#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (glycosaminoglycan) serine", "start_pos": 508, "start_aa": "Ser", "end_pos": 508, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser508", "evidence": [ { "id": "P13265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13265#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 351, "end_pos": 351, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "site_lbl": "Ser351" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine.", "journal": "Mol. Cell. Biol.", "date": "1988", "authors": "Filmus J, Church JG, Buick RN", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "reference": [ { "type": "PubMed", "id": "3185547", "url": "https://glygen.org/publication/PubMed/3185547" } ] }, { "title": "Identification of a new membrane-bound heparan sulphate proteoglycan.", "journal": "Biochem. J.", "date": "1995", "authors": "Filmus J, Shi W, Wong ZM, Wong MJ", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "reference": [ { "type": "PubMed", "id": "7487896", "url": "https://glygen.org/publication/PubMed/7487896" } ] }, { "title": "OCI-5/rat glypican-3 binds to fibroblast growth factor-2 but not to insulin-like growth factor-2.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Shi W., Filmus J., Song H.H.", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "reference": [ { "type": "PubMed", "id": "9065409", "url": "https://glygen.org/publication/PubMed/9065409" } ] } ], "pathway": [ { "id": "rno:25236", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:25236", "resource": "KEGG Pathway" }, { "id": "R-RNO-1971475", "name": "A tetrasaccharide linker sequence is required for GAG synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1971475", "resource": "Reactome", "description": "A tetrasaccharide linker sequence is required for GAG synthesis" }, { "id": "R-RNO-2022928", "name": "HS-GAG biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2022928", "resource": "Reactome", "description": "HS-GAG biosynthesis" }, { "id": "R-RNO-2024096", "name": "HS-GAG degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2024096", "resource": "Reactome", "description": "HS-GAG degradation" }, { "id": "R-RNO-381426", "name": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-381426", "resource": "Reactome", "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" }, { "id": "R-RNO-8957275", "name": "Post-translational protein phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8957275", "resource": "Reactome", "description": "Post-translational protein phosphorylation" }, { "id": "R-RNO-975634", "name": "Retinoid metabolism and transport", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-975634", "resource": "Reactome", "description": "Retinoid metabolism and transport" } ], "orthologs": [ { "uniprot_canonical_ac": "P51654-1", "protein_name": "Glypican-3", "gene_name": "GPC3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH", "length": 580 }, "evidence": [ { "id": "45225491", "url": "http://www.informatics.jax.org/homology/45225491", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q8CFZ4-1", "protein_name": "Glypican-3", "gene_name": "Gpc3", "tax_id": 10090, "organism": "Mus 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"canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, { "name": "positive regulation of glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "P13265", "url": "https://www.uniprot.org/uniprot/P13265" } ], "pmid": "" }, 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