{
    "uniprot_canonical_ac": "F8WCM5-1",
    "uniprot_ac": "F8WCM5",
    "uniprot_id": "INSR2_HUMAN",
    "mass": {
        "chemical_mass": 21537.0,
        "monoisotopic_mass": 21537.0
    },
    "refseq": {
        "ac": "NP_001035835",
        "name": "insulin, isoform 2 precursor",
        "summary": "This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835"
    },
    "gene_names": [
        {
            "name": "INS-IGF2",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/F8WCM5",
            "id": "F8WCM5"
        },
        {
            "name": "INS-IGF2",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835",
            "id": "NP_001035835"
        },
        {
            "name": "INSIGF",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835",
            "id": "NP_001035835"
        }
    ],
    "protein_names": [
        {
            "name": "Insulin, isoform 2",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "F8WCM5"
        },
        {
            "name": "INS-IGF2 readthrough transcript protein; insulin- insulin-like growth factor 2 read-through product",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835",
            "id": "NP_001035835"
        },
        {
            "name": "INS-IGF2 readthrough transcript protein",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "F8WCM5"
        },
        {
            "name": "insulin, isoform 2 precursor",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835",
            "id": "NP_001035835"
        }
    ],
    "function": [
        {
            "annotation": "GWAS of five gynecologic diseases and cross-trait analysis in Japanese.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035835",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835"
                },
                {
                    "database": "PubMed",
                    "id": "31488892",
                    "url": "https://glygen.org/publication/PubMed/31488892"
                }
            ]
        },
        {
            "annotation": "High INS-IGF2 expression is associated with Lung Cancer.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035835",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835"
                },
                {
                    "database": "PubMed",
                    "id": "30803359",
                    "url": "https://glygen.org/publication/PubMed/30803359"
                }
            ]
        },
        {
            "annotation": "Large parental differences in chromatin organization in pancreatic beta cell line explaining diabetes susceptibility effects. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035835",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835"
                },
                {
                    "database": "PubMed",
                    "id": "34267199",
                    "url": "https://glygen.org/publication/PubMed/34267199"
                }
            ]
        },
        {
            "annotation": "Periconception maternal smoking and low education are associated with dna methylation on INSIGF in the very young child.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035835",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835"
                },
                {
                    "database": "PubMed",
                    "id": "25102259",
                    "url": "https://glygen.org/publication/PubMed/25102259"
                }
            ]
        },
        {
            "annotation": "This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035835",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835"
                }
            ]
        },
        {
            "annotation": "We identified three known loci (TCF7L2, HMGA2 and KCNQ1) and two novel loci (HLA-B and INS-IGF2) at genome-wide significance (4.15 x 10(-94) Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035835",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035835"
                },
                {
                    "database": "PubMed",
                    "id": "25102180",
                    "url": "https://glygen.org/publication/PubMed/25102180"
                }
            ]
        }
    ],
    "disease": [],
    "snv": [],
    "mutagenesis": [],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "18.51",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "16.41",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "17.43",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "26.99",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "16.34",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "32.86",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "94.62",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "14.41",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "14.63",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000129965",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129965"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "No",
            "trend": "up",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "F8WCM5",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/F8WCM5"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1612",
                    "recommended_name": {
                        "id": "DOID:1612",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1612",
                        "name": "breast cancer",
                        "description": "A thoracic cancer that originates in the mammary gland."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant neoplasm of breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant tumor of the breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "primary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, lobular, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "down",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "F8WCM5",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/F8WCM5"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:263",
                    "recommended_name": {
                        "id": "DOID:263",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:263",
                        "name": "kidney cancer",
                        "description": "A urinary system cancer that is located_in the kidney."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant neoplasm of kidney except pelvis",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant tumour of kidney",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "renal cancer",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "F8WCM5",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/F8WCM5"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:3571",
                    "recommended_name": {
                        "id": "DOID:3571",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3571",
                        "name": "liver cancer",
                        "description": "A hepatobiliary system cancer that is located_in the liver."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Ca liver - primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Resectable malignant neoplasm of Liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant hepato-biliary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant tumor of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "non-resectable primary hepatic malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary liver cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "resectable malignant neoplasm of the liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, not specified as primary or secondary",
                            "description": ""
                        }
                    ]
                }
            ]
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "F8WCM5",
                    "url": "https://www.uniprot.org/uniprot/F8WCM5"
                }
            ],
            "common_name": "Human"
        }
    ],
    "gene": [
        {
            "name": "INS-IGF2",
            "url": "https://www.uniprot.org/uniprot/F8WCM5",
            "locus": {
                "chromosome": "11",
                "start_pos": 2132538,
                "end_pos": 2161209,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Gene",
                        "id": "ENSG00000129965",
                        "url": "https://www.ensembl.org/id/ENSG00000129965"
                    }
                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "ENSG00000129965",
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            "title": "lncINS-IGF2 Promotes Cell Proliferation and Migration by Promoting G1/S Transition in Lung Cancer.",
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            "title": "GWAS of five gynecologic diseases and cross-trait analysis in Japanese.",
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