{ "uniprot_canonical_ac": "O14732-1", "uniprot_ac": "O14732", "uniprot_id": "IMPA2_HUMAN", "mass": { "chemical_mass": 31321.0, "monoisotopic_mass": 31321.0 }, "refseq": { "ac": "NP_055029", "name": "inositol monophosphatase 2", "summary": "This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" }, "gene_names": [ { "name": "IMPA2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14732", "id": "O14732" }, { "name": "IMP.18P", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14732", "id": "O14732" }, { "name": "IMPA2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029", "id": "NP_055029" } ], "protein_names": [ { "name": "Inositol monophosphatase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14732" }, { "name": "3.1.3.25", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14732" }, { "name": "IMP 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14732" }, { "name": "IMPase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14732" }, { "name": "Inositol-1(or 4)-monophosphatase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14732" }, { "name": "Myo-inositol monophosphatase A2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14732" }, { "name": "inosine monophosphatase 2; IMP 2; IMPase 2; myo-inositol monophosphatase A2; inositol(myo)-1(or 4)-monophosphatase 2; myo-inositol monophosphatase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029", "id": "NP_055029" }, { "name": "inositol monophosphatase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029", "id": "NP_055029" } ], "function": [ { "annotation": "A novel function of IMPA2, plays a tumor-promoting role in cervical cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" }, { "database": "PubMed", "id": "32409648", "url": "https://glygen.org/publication/PubMed/32409648" } ] }, { "annotation": "Can use myo-inositol monophosphates, scylloinositol 1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. Has been implicated as the pharmacological target for lithium Li(+) action in brain.", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732#function" }, { "database": "PubMed", "id": "17068342", "url": "https://glygen.org/publication/PubMed/17068342" } ] }, { "annotation": "IMPA2 is a protein-coding gene for a catalytic protein that converts inositol monophosphate into free inositol through dephosphorylation.", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" }, { "database": "PubMed", "id": "29499505", "url": "https://glygen.org/publication/PubMed/29499505" } ] }, { "annotation": "IMPA2 promotes basal-like breast cancer aggressiveness by a MYC-mediated positive feedback loop.", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" }, { "database": "PubMed", "id": "38048842", "url": "https://glygen.org/publication/PubMed/38048842" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" }, { "database": "PubMed", "id": "11317223", "url": "https://glygen.org/publication/PubMed/11317223" } ] }, { "annotation": "The crystal structures of human IMPA2 are useful for understanding the effect of nonsynonymous polymorphism reported in IMPA2, and will contribute to further functional analyses of IMPA2.", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" }, { "database": "PubMed", "id": "17340635", "url": "https://glygen.org/publication/PubMed/17340635" } ] }, { "annotation": "This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" } ] }, { "annotation": "We conclude that miR-25-mediated IMPA2 downregulation constitutes a novel signature for cancer metastasis and poor outcomes in clear cell renal cell carcinoma (ccRCC). We further postulate that the therapeutic targeting of miR-25 can be useful for preventing the metastatic progression of ccRCC associated with IMPA2 downregulation.", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" }, { "database": "PubMed", "id": "31202813", "url": "https://glygen.org/publication/PubMed/31202813" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 104, "end_pos": 104, "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" }, { "database": "PubMed", "id": "17068342", "url": "https://glygen.org/publication/PubMed/17068342" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "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": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "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": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O14732", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14732" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "common_name": "Human" } ], "gene": [ { "name": "IMPA2", "url": "https://www.uniprot.org/uniprot/O14732", "locus": { "chromosome": "18", "start_pos": 12030877, "end_pos": 11981025, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000141401", "url": "https://www.ensembl.org/id/ENSG00000141401" } ] } } ], "crossref": [ { "id": "ENSG00000141401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141401", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd01639", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01639", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "IMPA2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IMPA2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3613", "url": "https://www.ncbi.nlm.nih.gov/gene/3613", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6051", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6051", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14732", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14732*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000760", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000760", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020550", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020550", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020552", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020552", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020583", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020583", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033942", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033942", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3613", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3613", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605922", "url": "http://www.omim.org/entry/605922", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14732", "url": "https://www.nextprot.org/entry/NX_O14732", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "NYTHIFP", "url": "https://omabrowser.org/oma/group/NYTHIFP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3685586at2759", "url": "http://www.orthodb.org/?query=3685586at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR20854", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR20854", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR20854:SF29", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR20854:SF29", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2CZH", "url": "https://www.rcsb.org/structure/2CZH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2CZI", "url": "https://www.rcsb.org/structure/2CZI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2CZK", "url": "https://www.rcsb.org/structure/2CZK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2DDK", "url": "https://www.rcsb.org/structure/2DDK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2FVZ", "url": "https://www.rcsb.org/structure/2FVZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00459", "url": "http://pfam.xfam.org/family/PF00459", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14732", "url": "https://pharos.nih.gov/targets/O14732", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14732", "url": "http://purl.obolibrary.org/obo/PR_O14732", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "24056", "url": "https://www.rhea-db.org/rhea/24056", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "K7EIH6", "url": "https://www.uniprot.org/uniprot/K7EIH6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EIH6-1", "url": "https://www.uniprot.org/uniprot/K7EIH6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EII9", "url": "https://www.uniprot.org/uniprot/K7EII9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EII9-1", "url": "https://www.uniprot.org/uniprot/K7EII9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL65", "url": "https://www.uniprot.org/uniprot/K7EL65", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL65-1", "url": "https://www.uniprot.org/uniprot/K7EL65-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELF8", "url": "https://www.uniprot.org/uniprot/K7ELF8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELF8-1", "url": "https://www.uniprot.org/uniprot/K7ELF8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14732-1", "url": "https://www.uniprot.org/uniprot/O14732-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14732-2", "url": "https://www.uniprot.org/uniprot/O14732-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6PIP6", "url": "https://www.uniprot.org/uniprot/Q6PIP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6PIP6-1", "url": "https://www.uniprot.org/uniprot/Q6PIP6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKPSGEDQAALAAGPWEECFQAAVQLALRAGQIIRKALTEEKRVSTKTSAADLVTETDHLVEDLIISELRERFPSHRFIAEEAAASGAKCVLTHSPTWIIDPIDGTCNFVHRFPTVAVSIGFAVRQELEFGVIYHCTEERLYTGRRGRGAFCNGQRLRVSGETDLSKALVLTEIGPKRDPATLKLFLSNMERLLHAKAHGVRVIGSSTLALCHLASGAADAYYQFGLHCWDLAAATVIIREAGGIVIDTSGGPLDLMACRVVAASTREMAMLIAQALQTINYGRDDEK", "length": 288, "header": "sp|O14732-1|IMPA2_HUMAN Isoform 1 of Inositol monophosphatase 2 OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "isoforms": [ { "isoform_ac": "K7EIH6-1", "url": "", "sequence": { "sequence": "XHSPTWIIDPIDGTCNFVHRFPTVAVSIGFAVRQELEFGVIYHCTEERLYTGRRGRGAFCNGQRLRVSGETEMGLRHAAQAGLEVLTSKRSAHLSLAKCWDYRHEPPRPAHESLKGLGSDRNWPQT", "length": 126, "header": "tr|K7EIH6-1|K7EIH6_HUMAN Computationally mapped isoform of inositol-phosphate phosphatase OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "locus": { "chromosome": "18", "start_pos": 12028087, "end_pos": 12009931, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586230.1", "url": "https://www.ensembl.org/id/ENST00000586230.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464754.1", "url": "https://www.ensembl.org/id/ENSP00000464754.1" } ] } }, { "isoform_ac": "K7EII9-1", "url": "", "sequence": { "sequence": "MERLLHAKAHGVRVIGSSTLALCHLASGAADAYYQFGLHCWDLAAATVIIREAGGIVIDTSGGPLDLMACRVVAASTREMAMLIAQALQTINYGRDDEK", "length": 99, "header": "tr|K7EII9-1|IMPA2_HUMAN Computationally mapped isoform of Inositol monophosphatase 2 OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "locus": { "chromosome": "18", "start_pos": 12030455, "end_pos": 12028120, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588927.5", "url": "https://www.ensembl.org/id/ENST00000588927.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464767.1", "url": "https://www.ensembl.org/id/ENSP00000464767.1" } ] } }, { "isoform_ac": "K7EL65-1", "url": "", "sequence": { "sequence": "MKPSGEDQAALAAGPWEECFQAAVQLALRAGQIIRKALTEEKRVSTKTSAADLVTETDHLVEDLIISELRERFPSHRFIAEEAAASGAKCVLTHSPTWIIDPIDGTCNFVHSLNSE", "length": 116, "header": "tr|K7EL65-1|K7EL65_HUMAN Computationally mapped isoform of Inositol monophosphatase 2 OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "locus": { "chromosome": "18", "start_pos": 12014277, "end_pos": 11981670, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590138.1", "url": "https://www.ensembl.org/id/ENST00000590138.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465938.1", "url": "https://www.ensembl.org/id/ENSP00000465938.1" } ] } }, { "isoform_ac": "K7ELF8-1", "url": "", "sequence": { "sequence": "MKPSGEDQAALAAGPWEECFQAAVQLALRAGQIIRKALTEEKRVSTKTSAADLVTETDHLVEDLIISELRERFPSHRFIAEEAAASGAKCVLTHSPTWIIDPIDGTCNFVHRFPTVAVSIGFAVRQEVRVWPRSPGPLPGLPLAILPFWLQPLCAWFAVCPVP", "length": 163, "header": "tr|K7ELF8-1|K7ELF8_HUMAN Computationally mapped isoform of inositol-phosphate phosphatase OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "locus": { "chromosome": "18", "start_pos": 12012323, "end_pos": 11981670, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590107.5", "url": "https://www.ensembl.org/id/ENST00000590107.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466059.1", "url": "https://www.ensembl.org/id/ENSP00000466059.1" } ] } }, { "isoform_ac": "O14732-1", "url": "", "sequence": { "sequence": "MKPSGEDQAALAAGPWEECFQAAVQLALRAGQIIRKALTEEKRVSTKTSAADLVTETDHLVEDLIISELRERFPSHRFIAEEAAASGAKCVLTHSPTWIIDPIDGTCNFVHRFPTVAVSIGFAVRQELEFGVIYHCTEERLYTGRRGRGAFCNGQRLRVSGETDLSKALVLTEIGPKRDPATLKLFLSNMERLLHAKAHGVRVIGSSTLALCHLASGAADAYYQFGLHCWDLAAATVIIREAGGIVIDTSGGPLDLMACRVVAASTREMAMLIAQALQTINYGRDDEK", "length": 288, "header": "sp|O14732-1|IMPA2_HUMAN Isoform 1 of Inositol monophosphatase 2 OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "locus": { "chromosome": "18", "start_pos": 12030455, "end_pos": 11981670, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000269159.8", "url": "https://www.ensembl.org/id/ENST00000269159.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000269159.3", "url": "https://www.ensembl.org/id/ENSP00000269159.3" } ] } }, { "isoform_ac": "O14732-2", "url": "", "sequence": { "sequence": "MKPSGQDRKALTEEKRVSTKTSAADLVTETDHLVEDLIISELRERFPSHRFIAEEAAASGAKCVLTHSPTWIIDPIDGTCNFVHRFPTVAVSIGFAVRQELEFGVIYHCTEERLYTGRRGRGAFCNGQRLRVSGETDLSKALVLTEIGPKRDPATLKLFLSNMERLLHAKAHGVRVIGSSTLALCHLASGAADAYYQFGLHCWDLAAATVIIREAGGIVIDTSGGPLDLMACRVVAASTREMAMLIAQALQTINYGRDDEK", "length": 261, "header": "sp|O14732-2|IMPA2_HUMAN Isoform 2 of Inositol monophosphatase 2 OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "locus": {} }, { "isoform_ac": "Q6PIP6-1", "url": "", "sequence": { "sequence": "MKPSGEDQAALAAGPWEECFQAAVQLALRAGQIIRKALTEEKRVSTKTSAADLVTETDHLVEDLIISELRERFPSHRSPFSLVHM", "length": 85, "header": "tr|Q6PIP6-1|Q6PIP6_HUMAN Computationally mapped isoform of Inositol monophosphatase 2 OS=Homo sapiens OX=9606 GN=IMPA2 PE=1 SV=1 CANONICAL=O14732-1" }, "locus": { "chromosome": "18", "start_pos": 12008357, "end_pos": 11981670, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383376.9", "url": "https://www.ensembl.org/id/ENST00000383376.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000372867.4", "url": "https://www.ensembl.org/id/ENSP00000372867.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 163, "end_pos": 163, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14732" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr163" }, { "start_pos": 166, "end_pos": 166, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14732" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser166" }, { "start_pos": 172, "end_pos": 172, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14732" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr172" }, { "start_pos": 182, "end_pos": 182, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14732" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr182" }, { "start_pos": 55, "end_pos": 55, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14732", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14732" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr55" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Novel inositol polyphosphate 5-phosphatase localizes at membrane ruffles.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Mochizuki Y, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "10593988", "url": "https://glygen.org/publication/PubMed/10593988" } ] }, { "title": "A human myo-inositol monophosphatase gene (IMPA2) localized in a putative susceptibility region for bipolar disorder on chromosome 18p11.2: genomic structure and polymorphism screening in manic-depressive patients.", "journal": "Mol. Psychiatry", "date": "2000", "authors": "Sjoholt G, Gulbrandsen AK, Lovlie R, Berle JO, Molven A, Steen VM", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "reference": [ { "type": "PubMed", "id": "10822345", "url": "https://glygen.org/publication/PubMed/10822345" } ] }, { "title": "Evidence for association of the myo-inositol monophosphatase 2 (IMPA2) gene with schizophrenia in Japanese samples.", "journal": "Molecular psychiatry", "date": "2001", "authors": "Yoshikawa T, Kikuchi M, Saito K, Watanabe A, Yamada K, Shibuya H, Nankai M, Kurumaji A, Hattori E, Ishiguro H, Shimizu H, Okubo Y, Toru M, Detera-Wadleigh SD", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" } ], "reference": [ { "type": "PubMed", "id": "11317223", "url": "https://glygen.org/publication/PubMed/11317223" } ] }, { "title": "Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Mochizuki Y, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "12890864", "url": "https://glygen.org/publication/PubMed/12890864" } ] }, { "title": "cDNA cloning of human and rat brain myo-inositol monophosphatase. Expression and characterization of the human recombinant enzyme.", "journal": "The Biochemical journal", "date": "1992", "authors": "McAllister G, Whiting P, Hammond EA, Knowles MR, Atack JR, Bailey FJ, Maigetter R, Ragan CI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "1377913", "url": "https://glygen.org/publication/PubMed/1377913" } ] }, { "title": "Human 1-D-myo-inositol-3-phosphate synthase is functional in yeast.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ju S, Shaltiel G, Shamir A, Agam G, Greenberg ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "15024000", "url": "https://glygen.org/publication/PubMed/15024000" } ] }, { "title": "Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.", "journal": "FEBS letters", "date": "2004", "authors": "Schmid AC, Wise HM, Mitchell CA, Nussbaum R, Woscholski R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "15474001", "url": "https://glygen.org/publication/PubMed/15474001" } ] }, { "title": "Lithium modulation of the human inositol monophosphatase 2 (IMPA2) promoter.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2004", "authors": "Seelan Ratnam S, Parthasarathy Latha K, Parthasarathy Ranga N", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "reference": [ { "type": "PubMed", "id": "15504365", "url": "https://glygen.org/publication/PubMed/15504365" } ] }, { "title": "Molecular cloning, expression, and characterization of myo-inositol oxygenase from mouse, rat, and human kidney.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Arner RJ, Prabhu KS, Reddy CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "15504367", "url": "https://glygen.org/publication/PubMed/15504367" } ] }, { "title": "Spatial expression patterns and biochemical properties distinguish a second myo-inositol monophosphatase IMPA2 from IMPA1.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Ohnishi T, Ohba H, Seo KC, Im J, Sato Y, Iwayama Y, Furuichi T, Chung SK, Yoshikawa T", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" }, { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "17068342", "url": "https://glygen.org/publication/PubMed/17068342" } ] }, { "title": "Cloning and expression of human 75-kDa inositol polyphosphate-5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ross TS, Jefferson AB, Mitchell CA, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "1718960", "url": "https://glygen.org/publication/PubMed/1718960" } ] }, { "title": "Crystal structure of human myo-inositol monophosphatase 2, the product of the putative susceptibility gene for bipolar disorder, schizophrenia, and febrile seizures.", "journal": "Proteins", "date": "2007", "authors": "Arai R, Ito K, Ohnishi T, Ohba H, Akasaka R, Bessho Y, Hanawa-Suetsugu K, Yoshikawa T, Shirouzu M, Yokoyama S", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" }, { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" } ], "reference": [ { "type": "PubMed", "id": "17340635", "url": "https://glygen.org/publication/PubMed/17340635" } ] }, { "title": "Structural and biophysical characterization of human myo-inositol oxygenase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Thorsell AG, Persson C, Voevodskaya N, Busam RD, Hammarstrom M, Graslund S, Graslund A, Hallberg BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "18364358", "url": "https://glygen.org/publication/PubMed/18364358" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O14732-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14732-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Association between genetic variation in the myo-inositol monophosphatase 2 (IMPA2) gene and age at onset of bipolar disorder.", "journal": "Journal of affective disorders", "date": "2018", "authors": "Tomioka Y, Jimenez E, Salagre E, Arias B, Mitjans M, Ruiz V, Saiz P, Garcia-Portilla MP, de la Fuente L, Gomes-da-Costa SP, Bobes J, Vieta E, Benabarre A, Grande I", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" } ], "reference": [ { "type": "PubMed", "id": "29499505", "url": "https://glygen.org/publication/PubMed/29499505" } ] }, { "title": "Dysregulation of the miR-25-IMPA2 axis promotes metastatic progression in clear cell renal cell carcinoma.", "journal": "EBioMedicine", "date": "2019", "authors": "Lin YF, Chou JL, Chang JS, Chiu IJ, Chiu HW, Lin YF", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" } ], "reference": [ { "type": "PubMed", "id": "31202813", "url": "https://glygen.org/publication/PubMed/31202813" } ] }, { "title": "A novel function of IMPA2, plays a tumor-promoting role in cervical cancer.", "journal": "Cell death & disease", "date": "2020", "authors": "Zhang K, Liu L, Wang M, Yang M, Li X, Xia X, Tian J, Tan S, Luo L", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" } ], "reference": [ { "type": "PubMed", "id": "32409648", "url": "https://glygen.org/publication/PubMed/32409648" } ] }, { "title": "IMPA2 promotes basal-like breast cancer aggressiveness by a MYC-mediated positive feedback loop.", "journal": "Cancer letters", "date": "2024-02-01", "authors": "Lei Xingyu, Liao Ruocen, Chen Xingyu, Wang Zhenzhen, Cao Qianhua, Bai Longchang, Ma Chenglong, Deng Xinyue, Ma Yihua, Wu Xuebiao, Li Jun, Dai Zhijun, Dong Chenfang", "evidence": [ { "database": "RefSeq", "id": "NP_055029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055029" } ], "reference": [ { "type": "PubMed", "id": "38048842", "url": "https://glygen.org/publication/PubMed/38048842" } ] }, { "title": "The isolation and characterization of cDNA encoding human and rat brain inositol polyphosphate 4-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Norris FA, Auethavekiat V, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "7608176", "url": "https://glygen.org/publication/PubMed/7608176" } ] }, { "title": "Properties of type II inositol polyphosphate 5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Jefferson AB, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "7721860", "url": "https://glygen.org/publication/PubMed/7721860" } ] }, { "title": "The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Zhang X, Jefferson AB, Auethavekiat V, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "7761412", "url": "https://glygen.org/publication/PubMed/7761412" } ] }, { "title": "Characterization of a cDNA encoding the 43-kDa membrane-associated inositol-polyphosphate 5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Laxminarayan KM, Chan BK, Tetaz T, Bird PI, Mitchell CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "8006039", "url": "https://glygen.org/publication/PubMed/8006039" } ] }, { "title": "Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "York JD, Veile RA, Donis-Keller H, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "8390685", "url": "https://glygen.org/publication/PubMed/8390685" } ] }, { "title": "The cDNA cloning and characterization of inositol polyphosphate 4-phosphatase type II. Evidence for conserved alternative splicing in the 4-phosphatase family.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Norris FA, Atkins RC, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "9295334", "url": "https://glygen.org/publication/PubMed/9295334" } ] }, { "title": "A novel human myo-inositol monophosphatase gene, IMP.18p, maps to a susceptibility region for bipolar disorder.", "journal": "Mol. Psychiatry", "date": "1997", "authors": "Yoshikawa T, Turner G, Esterling LE, Sanders AR, Detera-Wadleigh SD", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "reference": [ { "type": "PubMed", "id": "9322233", "url": "https://glygen.org/publication/PubMed/9322233" } ] }, { "title": "Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1855183", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183" } ], "reference": [ { "type": "PubMed", "id": "9430698", "url": "https://glygen.org/publication/PubMed/9430698" } ] } ], "pathway": [ { "id": "hsa:3613", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3613", "resource": "KEGG Pathway" }, { "id": "R-HSA-1855183", "name": "Synthesis of IP2, IP, and Ins in the cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855183", "resource": "Reactome", "description": "Synthesis of IP2, IP, and Ins in the cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8CIN7-1", "protein_name": "Inositol monophosphatase 2", "gene_name": "Impa2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKPNSEEEEELVQGVGPWDECFEVAVQLALRAGQIIRKALTEEKHVSTKTSAADLVTETDHRVEDLIVSELRKRFPSHRFIAEEATASGAKCVLTHSPTWIIDPIDGTCNFVHRFPTVAVSIGFAVHQELEFGVIHHCTEERLYTGRRGQGAFCNGQRLQVSRETDLAKALVLTEIGPKRDPDTLKVFLSNMERLLHAKAHGVRVIGSSTLALCYLASGAADAYYQFGLHCWDLAAATVIIREAGGIVIDTSGGPLDLMSCRVVAAGTREMAVLIAQALQTINYGRDDEK", "length": 290 }, "evidence": [ { "id": "45930852", "url": "http://www.informatics.jax.org/homology/45930852", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q91UZ5-1", "protein_name": "Inositol monophosphatase 2", "gene_name": "Impa2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKPSSEEEGELVQGVGPWDECFEVAVQLALRAGQIIRKALTEEKRVSTKTSAADLVTETDHRVEDLIVSELRKRFPSHRFIAEEATASGAKCVLTHSPTWIIDPIDGTCNFVHRFPTVAVSIGFAVHQELEFGVIHHCTEERLYTGRRGQGAFCNGQRLQVSRETDLAKALVLTEIGPKRDPDTLKVFLSNMERLLHAKAHGVRVIGSSTLALCYLASGAADAYYQFGLHCWDLAAATVIIREAGGIVIDTSGGPLDLMSCRVVAAGTREMAVLIAQALQTINYGRDDEK", "length": 290 }, "evidence": [ { "id": "45930852", "url": "http://www.informatics.jax.org/homology/45930852", "database": "MGI" }, { "id": "O14732", "url": "https://omabrowser.org/oma/group/O14732/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "inositol monophosphate 1-phosphatase activity", "id": "GO:0008934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008934", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "inositol monophosphate 3-phosphatase activity", "id": "GO:0052832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052832", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "inositol monophosphate 4-phosphatase activity", "id": "GO:0052833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052833", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "inositol metabolic process", "id": "GO:0006020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006020", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "phosphate-containing compound metabolic process", "id": "GO:0006796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006796", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "response to lithium ion", "id": "GO:0010226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010226", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "inositol biosynthetic process", "id": "GO:0006021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006021", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O14732", "url": "https://www.uniprot.org/uniprot/O14732" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "24056", "name": "", "equation": "a myo-inositol phosphate + H2O = myo-inositol + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8CIN7-1", "P97697-1", "P29218-1", "O14732-1", "Q9Y2H2-1", "O55023-1", "Q91UZ5-1", "Q8CDA1-1", "P38710-1", "Q05533-1", "Q54U72-1", "Q9VYF2-1", "Q7KTW5-1", "Q9VUW1-1", "Q9VUW2-1", "Q9VUW4-1", "Q9VP62-1", "Q9VUW3-1" ], "evidence": [ { "id": "24056", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24056" } ] }, { "id": "R-HSA-1855154", "name": "I1P is dephosphorylated to Ins by IMPA1/2 in the cytosol", "equation": "", "summary": "Inositol monophosphatase 1 (IMPA1) and 2 (IMPA2) homodimers dephosphorylate inositol 1-phosphate (I1P) to inositol (Ins). In vitro, IMPA1 and 2 differ in their pH optima and IMPA1 has a significantly greater activity on IP4 than does IMPA2 (McAllister et al. 1992, Ohnishi et al. 2007).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-870330" ], "output_participant_list": [], "enzyme_list": [ "O14732-1", "P29218-1" ], "evidence": [ { "id": "R-HSA-1855154", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855154" } ] }, { "id": "R-HSA-1855210", "name": "I3P is dephosphorylated to Ins by IMPA1/2 in the cytosol", "equation": "", "summary": "Inositol monophosphatase 1 (IMPA1) and 2 (IMPA2) homodimers dephosphorylate inositol 3-phosphate (I3P) to inositol (Ins). In vitro, IMPA1 and 2 differ in their pH optima and IMPA1 has a significantly greater activity on IP4 than does IMPA2 (Ohnishi et al. 2007).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14732-1", "P29218-1" ], "evidence": [ { "id": "R-HSA-1855210", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855210" } ] }, { "id": "R-HSA-1855211", "name": "I4P is dephosphorylated to Ins by IMPA1/2 in the cytosol", "equation": "", "summary": "Inositol monophosphatase 1 (IMPA1) and 2 (IMPA2) homodimers dephosphorylate inositol 4-phosphate (I4P) to inositol (Ins). In vitro, IMPA1 and 2 differ in their pH optima and IMPA1 has a significantly greater activity on IP4 than does IMPA2 (Ohnishi et al. 2007).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14732-1", "P29218-1" ], "evidence": [ { "id": "R-HSA-1855211", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855211" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-870330", "participant_name": "I1P [cytosol]", "crossref": [ { "id": "5203", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000213", "database": "HMDB Metabolite", "url": "" }, { "id": "C01177", "database": "COMPOUND", "url": "" }, { "id": "18297", "database": "ChEBI", "url": "" }, { "id": "000100061358", "database": "ZINC", "url": "" }, { "id": "18297", "database": "ChEBI", "url": "" }, { "id": "HMDB0000213", "database": "HMDB Metabolite", "url": "" }, { "id": "000100061358", "database": "ZINC", "url": "" }, { "id": "5203", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C01177", "database": "COMPOUND", "url": "" }, { "id": "000100061358", "database": "ZINC", "url": "" }, { "id": "18297", "database": "ChEBI", "url": "" }, { "id": "C01177", "database": "COMPOUND", "url": "" }, { "id": "HMDB0000213", "database": "HMDB Metabolite", "url": "" }, { "id": "5203", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000100061358", "database": "ZINC", "url": "" }, { "id": "18297", "database": "ChEBI", "url": "" }, { "id": "C01177", "database": "COMPOUND", "url": "" }, { "id": "HMDB0000213", "database": "HMDB Metabolite", "url": "" }, { "id": "5203", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "18297", "database": "ChEBI", "url": "" }, { "id": "HMDB0000213", "database": "HMDB Metabolite", "url": "" }, { "id": "000100061358", "database": "ZINC", "url": "" }, { "id": "5203", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C01177", "database": "COMPOUND", "url": "" }, { "id": "5203", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000213", "database": "HMDB Metabolite", "url": "" }, { "id": "C01177", "database": "COMPOUND", "url": "" }, { "id": "18297", "database": "ChEBI", "url": "" }, { "id": "000100061358", "database": "ZINC", "url": "" }, { "id": "5203", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000213", "database": "HMDB Metabolite", "url": "" }, { "id": "18297", "database": "ChEBI", "url": "" }, { "id": "000100061358", "database": "ZINC", "url": "" }, { "id": "C01177", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O14732", "gene_name": "IMPA2", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "O14732", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14732" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "O14732", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14732" } ] } ] }, { "uniprot_ac": "O55023", "gene_name": "Impa1", "activity": [ { "ec_number": "3.1.3.94", "activity": "alpha-D-galactose 1-phosphate + H2O = D-galactose + phosphate.", "evidence": [ { "id": "O55023", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O55023" } ] }, { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "O55023", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O55023" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "O55023", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O55023" } ] } ] }, { "uniprot_ac": "P29218", "gene_name": "IMPA1", "activity": [ { "ec_number": "3.1.3.94", "activity": "alpha-D-galactose 1-phosphate + H2O = D-galactose + phosphate.", "evidence": [ { "id": "P29218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29218" } ] }, { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "P29218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29218" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "P29218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29218" } ] } ] }, { "uniprot_ac": "P38710", "gene_name": "INM1", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "P38710", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38710" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "P38710", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38710" } ] } ] }, { "uniprot_ac": "P97697", "gene_name": "Impa1", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "P97697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97697" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "P97697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97697" } ] }, { "ec_number": "3.1.3.94", "activity": "alpha-D-galactose 1-phosphate + H2O = D-galactose + phosphate.", "evidence": [ { "id": "P97697", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97697" } ] } ] }, { "uniprot_ac": "Q05533", "gene_name": "INM2", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q05533", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05533" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q05533", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05533" } ] } ] }, { "uniprot_ac": "Q54U72", "gene_name": "impa1", "activity": [ { "ec_number": "3.1.3.94", "activity": "alpha-D-galactose 1-phosphate + H2O = D-galactose + phosphate.", "evidence": [ { "id": "Q54U72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54U72" } ] }, { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q54U72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54U72" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q54U72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54U72" } ] } ] }, { "uniprot_ac": "Q7KTW5", "gene_name": "Dmel\\CG9391", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q7KTW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KTW5" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q7KTW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7KTW5" } ] } ] }, { "uniprot_ac": "Q8CDA1", "gene_name": "Inpp5f", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q8CDA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CDA1" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q8CDA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CDA1" } ] } ] }, { "uniprot_ac": "Q8CIN7", "gene_name": "Impa2", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q8CIN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CIN7" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q8CIN7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CIN7" } ] } ] }, { "uniprot_ac": "Q91UZ5", "gene_name": "Impa2", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q91UZ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91UZ5" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q91UZ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91UZ5" } ] } ] }, { "uniprot_ac": "Q9VP62", "gene_name": "Dmel\\CG9389", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q9VP62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VP62" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q9VP62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VP62" } ] } ] }, { "uniprot_ac": "Q9VUW1", "gene_name": "cg17026", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q9VUW1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW1" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q9VUW1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW1" } ] } ] }, { "uniprot_ac": "Q9VUW2", "gene_name": "IMP", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q9VUW2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW2" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q9VUW2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW2" } ] } ] }, { "uniprot_ac": "Q9VUW3", "gene_name": "IMP", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q9VUW3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW3" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q9VUW3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW3" } ] } ] }, { "uniprot_ac": "Q9VUW4", "gene_name": "IMP", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q9VUW4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW4" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q9VUW4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VUW4" } ] } ] }, { "uniprot_ac": "Q9VYF2", "gene_name": "", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q9VYF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VYF2" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q9VYF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VYF2" } ] } ] }, { "uniprot_ac": "Q9Y2H2", "gene_name": "INPP5F", "activity": [ { "ec_number": "3.1.3.25", "activity": "1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate.", "evidence": [ { "id": "Q9Y2H2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2H2" } ] }, { "ec_number": "3.1.3.25", "activity": "", "evidence": [ { "id": "Q9Y2H2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2H2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 55, 163, 166, 172, 182 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 26 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }