{ "uniprot_canonical_ac": "O60443-1", "uniprot_ac": "O60443", "uniprot_id": "GSDME_HUMAN", "mass": { "chemical_mass": 54555.0, "monoisotopic_mass": 54555.0 }, "refseq": { "ac": "NP_001120925", "name": "gasdermin-E isoform a", "summary": "Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925" }, "gene_names": [ { "name": "GSDME", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60443", "id": "O60443" }, { "name": "DFNA5; ICERE-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925", "id": "NP_001120925" }, { "name": "DFNA5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60443", "id": "O60443" }, { "name": "GSDME", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925", "id": "NP_001120925" }, { "name": "ICERE1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60443", "id": "O60443" } ], "protein_names": [ { "name": "Gasdermin-E", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60443" }, { "name": "ICERE-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60443" }, { "name": "Inversely correlated with estrogen receptor expression 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60443" }, { "name": "Non-syndromic hearing impairment protein 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60443" }, { "name": "gasdermin-E isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925", "id": "NP_001120925" }, { "name": "nonsyndromic hearing impairment protein; non-syndromic hearing impairment protein 5; inversely correlated with estrogen receptor expression 1; DFNA5, deafness associated tumor suppressor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925", "id": "NP_001120925" } ], "function": [ { "annotation": "(Microbial infection) Pore-forming protein, which promotes maternal placental pyroptosis in response to Zika virus infection, contributing to adverse fetal outcomes.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443#function" }, { "database": "PubMed", "id": "35972780", "url": "https://glygen.org/publication/PubMed/35972780" } ] }, { "annotation": "AMIGO2 attenuates innate cisplatin sensitivity by suppression of GSDME-conferred pyroptosis in non-small cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001120925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925" }, { "database": "PubMed", "id": "37438979", "url": "https://glygen.org/publication/PubMed/37438979" } ] }, { "annotation": "Autophagy promotes GSDME-mediated pyroptosis via intrinsic and extrinsic apoptotic pathways in cobalt chloride-induced hypoxia reoxygenation-acute kidney injury.", "evidence": [ { "database": "RefSeq", "id": "NP_001120925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925" }, { "database": "PubMed", "id": "35863214", "url": "https://glygen.org/publication/PubMed/35863214" } ] }, { "annotation": "DFNA5 inhibits colorectal cancer proliferation by suppressing the mTORC1/2 signaling pathways via upregulation of DEPTOR.", "evidence": [ { "database": "RefSeq", "id": "NP_001120925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925" }, { "database": "PubMed", "id": "35923131", "url": "https://glygen.org/publication/PubMed/35923131" } ] }, { "annotation": "Gasdermin E regulates the stability and activation of EGFR in human non-small cell lung cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925" }, { "database": "PubMed", "id": "37085908", "url": "https://glygen.org/publication/PubMed/37085908" } ] }, { "annotation": "Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001120925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925" } ] }, { "annotation": "Pore-forming protein produced by cleavage by CASP3 or granzyme B (GZMB), which converts non-inflammatory apoptosis to pyroptosis or promotes granzyme-mediated pyroptosis, respectively (PubMed:27281216, PubMed:28459430, PubMed:32188940, PubMed:33852854, PubMed:35594856). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, allowing the release of mature interleukins (IL1B and IL16) and triggering pyroptosis (PubMed:28459430, PubMed:32188940, PubMed:33852854, PubMed:35594856). Binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Cleavage by CASP3 switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:32188940). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216). Cleavage by GZMB promotes tumor suppressor activity by triggering robust anti-tumor immunity (PubMed:21522185, PubMed:32188940). Suppresses tumors by mediating granzyme-mediated pyroptosis in target cells of natural killer (NK) cells: cleavage by granzyme B (GZMB), delivered to target cells from NK-cells, triggers pyroptosis of tumor cells and tumor suppression (PubMed:32188940, PubMed:31953257). May play a role in the p53/TP53-regulated cellular response to DNA damage (PubMed:16897187).", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443#function" }, { "database": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" }, { "database": "PubMed", "id": "16897187", "url": "https://glygen.org/publication/PubMed/16897187" }, { "database": "PubMed", "id": "21522185", "url": "https://glygen.org/publication/PubMed/21522185" }, { "database": "PubMed", "id": "32188940", "url": "https://glygen.org/publication/PubMed/32188940" }, { "database": "PubMed", "id": "28045099", "url": "https://glygen.org/publication/PubMed/28045099" }, { "database": "PubMed", "id": "31953257", "url": "https://glygen.org/publication/PubMed/31953257" }, { "database": "PubMed", "id": "28459430", "url": "https://glygen.org/publication/PubMed/28459430" }, { "database": "PubMed", "id": "33852854", "url": "https://glygen.org/publication/PubMed/33852854" }, { "database": "PubMed", "id": "35594856", "url": "https://glygen.org/publication/PubMed/35594856" } ] }, { "annotation": "Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:33852854, PubMed:35594856). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-E, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:28459430).", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443#function" }, { "database": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" }, { "database": "PubMed", "id": "28459430", "url": "https://glygen.org/publication/PubMed/28459430" }, { "database": "PubMed", "id": "33852854", "url": "https://glygen.org/publication/PubMed/33852854" }, { "database": "PubMed", "id": "35594856", "url": "https://glygen.org/publication/PubMed/35594856" } ] }, { "annotation": "Zika virus causes placental pyroptosis and associated adverse fetal outcomes by activating GSDME. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925" }, { "database": "PubMed", "id": "35972780", "url": "https://glygen.org/publication/PubMed/35972780" } ] } ], "disease": [ { "disease_id": "DOID:0110575", "recommended_name": { "id": "DOID:0110575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110575", "name": "autosomal dominant nonsyndromic deafness 5", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15." }, "synonyms": [ { "id": "DOID:0110575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110575", "name": "DFNA5", "description": "" }, { "id": "DOID:0110575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110575", "name": "autosomal dominant deafness 5", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "autosomal dominant nonsyndromic hearing loss 5", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "DFNA5", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "GSDME autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "autosomal dominant deafness 5", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "autosomal dominant nonsyndromic deafness 5", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "autosomal dominant nonsyndromic deafness caused by mutation in GSDME", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "autosomal dominant nonsyndromic deafness type 5", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "deafness, autosomal dominant 5", "description": "" }, { "id": "MONDO:0010973", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010973", "name": "deafness, autosomal dominant type 5", "description": "" }, { "id": "MIM:600994", "resource": "MIM", "url": "https://www.omim.org/entry/600994", "name": "Deafness, autosomal dominant, 5", "description": "Deafness, autosomal dominant, 5" } ], "evidence": [ { "id": "600994", "database": "MIM", "url": "https://www.omim.org/entry/600994" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 267, "end_pos": 267, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes cleavage by CASP3. Abolishes pyroptosis induction.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "28459430", "url": "https://glygen.org/publication/PubMed/28459430" } ] }, { "start_pos": 270, "end_pos": 270, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes cleavage by CASP3 or granzyme B. Abolishes pyroptosis induction.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "32188940", "url": "https://glygen.org/publication/PubMed/32188940" }, { "database": "PubMed", "id": "28045099", "url": "https://glygen.org/publication/PubMed/28045099" }, { "database": "PubMed", "id": "28459430", "url": "https://glygen.org/publication/PubMed/28459430" }, { "database": "PubMed", "id": "33852854", "url": "https://glygen.org/publication/PubMed/33852854" } ] }, { "start_pos": 270, "end_pos": 270, "sequence_org": "D", "sequence_mut": "E", "comment": "Abolishes cleavage by CASP3 or granzyme B. Abolishes pyroptosis induction.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "32188940", "url": "https://glygen.org/publication/PubMed/32188940" }, { "database": "PubMed", "id": "28045099", "url": "https://glygen.org/publication/PubMed/28045099" }, { "database": "PubMed", "id": "28459430", "url": "https://glygen.org/publication/PubMed/28459430" }, { "database": "PubMed", "id": "33852854", "url": "https://glygen.org/publication/PubMed/33852854" } ] }, { "start_pos": 2, "end_pos": 2, "sequence_org": "F", "sequence_mut": "A", "comment": "No effect on plasma membrane targeting. Decreases induction of necrotic activity. Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-40.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "32188940", "url": "https://glygen.org/publication/PubMed/32188940" }, { "database": "PubMed", "id": "28045099", "url": "https://glygen.org/publication/PubMed/28045099" } ] }, { "start_pos": 313, "end_pos": 313, "sequence_org": "I", "sequence_mut": "D", "comment": "No spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" } ] }, { "start_pos": 388, "end_pos": 388, "sequence_org": "F", "sequence_mut": "D", "comment": "Low spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" } ] }, { "start_pos": 392, "end_pos": 392, "sequence_org": "A", "sequence_mut": "D", "comment": "Low spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" } ] }, { "start_pos": 39, "end_pos": 39, "sequence_org": "K", "sequence_mut": "A", "comment": "Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-40 and/or A-41.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "28045099", "url": "https://glygen.org/publication/PubMed/28045099" } ] }, { "start_pos": 40, "end_pos": 40, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on plasma membrane targeting. No effect on induction of cytotoxivity. Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-2 or A-39 and A-41.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "28045099", "url": "https://glygen.org/publication/PubMed/28045099" } ] }, { "start_pos": 41, "end_pos": 41, "sequence_org": "K", "sequence_mut": "A", "comment": "Disrupts plasma membrane targeting and induction of necrotic activity; when associated with A-39 and/or A-41.", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" }, { "database": "PubMed", "id": "28045099", "url": "https://glygen.org/publication/PubMed/28045099" } ] } ], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60443", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60443" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60443", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60443" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { 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}, { "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60443", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60443" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60443" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60443", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60443" } ], "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" } ], "common_name": "Human" } ], "gene": [ { "name": "GSDME", "url": "https://www.uniprot.org/uniprot/O60443", "locus": { "chromosome": "7", "start_pos": 64666, "end_pos": 5557, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1428", "url": "https://www.ensembl.org/id/LRG_1428" } ] } } ], "crossref": [ { "id": "ENSG00000105928", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105928", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "GSDME", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSDME", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1687", "url": "https://www.ncbi.nlm.nih.gov/gene/1687", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2810", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2810", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60443", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60443*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR040460", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040460", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041263", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041263", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042377", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042377", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "600994", "url": "http://www.omim.org/entry/600994", "database": "MIM", "categories": [ "Other" ] }, { "id": "608798", "url": "http://www.omim.org/entry/608798", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60443", "url": "https://www.nextprot.org/entry/NX_O60443", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60443", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60443", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DEMTNDC", "url": "https://omabrowser.org/oma/group/DEMTNDC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2905407at2759", "url": "http://www.orthodb.org/?query=2905407at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15207", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15207", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15207:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15207:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04598", "url": "http://pfam.xfam.org/family/PF04598", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17708", "url": "http://pfam.xfam.org/family/PF17708", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60443", "url": "https://pharos.nih.gov/targets/O60443", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60443", "url": "http://purl.obolibrary.org/obo/PR_O60443", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-111457", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111457", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-111458", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111458", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-111461", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111461", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5620971", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620971", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9710421", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9710421", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001120925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120925", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JSR4", "url": "https://www.uniprot.org/uniprot/C9JSR4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JSR4-1", "url": "https://www.uniprot.org/uniprot/C9JSR4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZJ0", "url": "https://www.uniprot.org/uniprot/H7BZJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZJ0-1", "url": "https://www.uniprot.org/uniprot/H7BZJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0L2", "url": "https://www.uniprot.org/uniprot/H7C0L2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0L2-1", "url": "https://www.uniprot.org/uniprot/H7C0L2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C147", "url": "https://www.uniprot.org/uniprot/H7C147", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C147-1", "url": "https://www.uniprot.org/uniprot/H7C147-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60443-1", "url": "https://www.uniprot.org/uniprot/O60443-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60443-2", "url": "https://www.uniprot.org/uniprot/O60443-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60443-3", "url": "https://www.uniprot.org/uniprot/O60443-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS", "length": 496, "header": "sp|O60443-1|GSDME_HUMAN Isoform 1 of Gasdermin-E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=2 CANONICAL=O60443-1" }, "isoforms": [ { "isoform_ac": "C9JSR4-1", "url": "", "sequence": { "sequence": "MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVVSPETSQGSVFTGVFWNRGGGRMELC", "length": 356, "header": "tr|C9JSR4-1|GSDME_HUMAN Computationally mapped isoform of Gasdermin-E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=2 CANONICAL=O60443-1" }, "locus": { "chromosome": "7", "start_pos": 24749774, "end_pos": 24708049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414428.2", "url": "https://www.ensembl.org/id/ENST00000414428.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000413963.2", "url": "https://www.ensembl.org/id/ENSP00000413963.2" } ] } }, { "isoform_ac": "H7BZJ0-1", "url": "", "sequence": { "sequence": "XAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVKDILGRSSSLTLSCTNGESHTSCQPSSHPDSVSSLS", "length": 155, "header": "tr|H7BZJ0-1|H7BZJ0_HUMAN Computationally mapped isoform of Gasdermin E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=1 CANONICAL=O60443-1" }, "locus": { "chromosome": "7", "start_pos": 24717316, "end_pos": 24707314, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415480.5", "url": "https://www.ensembl.org/id/ENST00000415480.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000389874.1", "url": "https://www.ensembl.org/id/ENSP00000389874.1" } ] } }, { "isoform_ac": "H7C0L2-1", "url": "", "sequence": { "sequence": "QLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLVSNLPGGTLEWIGMGK", "length": 55, "header": "tr|H7C0L2-1|GSDME_HUMAN Computationally mapped isoform of Gasdermin-E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=1 CANONICAL=O60443-1" }, "locus": { "chromosome": "7", "start_pos": 24706226, "end_pos": 24702712, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430096.1", "url": "https://www.ensembl.org/id/ENST00000430096.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000395540.1", "url": "https://www.ensembl.org/id/ENSP00000395540.1" } ] } }, { "isoform_ac": "H7C147-1", "url": "", "sequence": { "sequence": "XEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVQKDILGRSSSLTLSCTNGESHTSCQPSSHPDSVSSLS", "length": 192, "header": "tr|H7C147-1|GSDME_HUMAN Computationally mapped isoform of Gasdermin-E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=1 CANONICAL=O60443-1" }, "locus": { "chromosome": "7", "start_pos": 24719096, "end_pos": 24707314, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446822.6", "url": "https://www.ensembl.org/id/ENST00000446822.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000398445.1", "url": "https://www.ensembl.org/id/ENSP00000398445.1" } ] } }, { "isoform_ac": "O60443-1", "url": "", "sequence": { "sequence": "MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS", "length": 496, "header": "sp|O60443-1|GSDME_HUMAN Isoform 1 of Gasdermin-E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=2 CANONICAL=O60443-1" }, "locus": { "chromosome": "7", "start_pos": 24749774, "end_pos": 24699029, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645220.1", "url": "https://www.ensembl.org/id/ENST00000645220.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494186.1", "url": "https://www.ensembl.org/id/ENSP00000494186.1" } ] } }, { "isoform_ac": "O60443-2", "url": "", "sequence": { "sequence": "MPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS", "length": 101, "header": "sp|O60443-2|GSDME_HUMAN Isoform 2 of Gasdermin-E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=2 CANONICAL=O60443-1" }, "locus": {} }, { "isoform_ac": "O60443-3", "url": "", "sequence": { "sequence": "MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS", "length": 332, "header": "sp|O60443-3|GSDME_HUMAN Isoform 3 of Gasdermin-E OS=Homo sapiens OX=9606 GN=GSDME PE=1 SV=2 CANONICAL=O60443-1" }, "locus": { "chromosome": "7", "start_pos": 24719130, "end_pos": 24699029, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419307.6", "url": "https://www.ensembl.org/id/ENST00000419307.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000401332.1", "url": "https://www.ensembl.org/id/ENSP00000401332.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60443", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60443" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60443", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60443" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser252" }, { "start_pos": 254, "end_pos": 254, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60443", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60443" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr254" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Structural and biochemical basis of apoptotic activation by Smac/DIABLO.", "journal": "Nature", "date": "2000", "authors": "Chai J, Du C, Wu JW, Kyin S, Wang X, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-111457", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111457" } ], "reference": [ { "type": "PubMed", "id": "10972280", "url": "https://glygen.org/publication/PubMed/10972280" } ] }, { "title": "Fibrinogen stimulates macrophage chemokine secretion through toll-like receptor 4.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2001", "authors": "Smiley ST, King JA, Hancock WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "11509636", "url": "https://glygen.org/publication/PubMed/11509636" } ] }, { "title": "Surfactant protein A inhibits peptidoglycan-induced tumor necrosis factor-alpha secretion in U937 cells and alveolar macrophages by direct interaction with toll-like receptor 2.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Murakami S, Iwaki D, Mitsuzawa H, Sano H, Takahashi H, Voelker DR, Akino T, Kuroki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "11724772", "url": "https://glygen.org/publication/PubMed/11724772" } ] }, { "title": "Dimer formation drives the activation of the cell death protease caspase 9.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Renatus M, Stennicke HR, Scott FL, Liddington RC, Salvesen GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-111458", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111458" } ], "reference": [ { "type": "PubMed", "id": "11734640", "url": "https://glygen.org/publication/PubMed/11734640" } ] }, { "title": "Release of chromatin protein HMGB1 by necrotic cells triggers inflammation.", "journal": "Nature", "date": "2002", "authors": "Scaffidi P, Misteli T, Bianchi ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "12110890", "url": "https://glygen.org/publication/PubMed/12110890" } ] }, { "title": "Protective role of phospholipid oxidation products in endotoxin-induced tissue damage.", "journal": "Nature", "date": "2002", "authors": "Bochkov VN, Kadl A, Huber J, Gruber F, Binder BR, Leitinger N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "12214235", "url": "https://glygen.org/publication/PubMed/12214235" } ] }, { "title": "Direct interaction between survivin and Smac/DIABLO is essential for the anti-apoptotic activity of survivin during taxol-induced apoptosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Song Z, Yao X, Wu M", "evidence": [ { "database": "Reactome", "id": "R-HSA-111458", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111458" } ], "reference": [ { "type": "PubMed", "id": "12660240", "url": "https://glygen.org/publication/PubMed/12660240" } ] }, { "title": "Direct binding of Toll-like receptor 2 to zymosan, and zymosan-induced NF-kappa B activation and TNF-alpha secretion are down-regulated by lung collectin surfactant protein A.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Sato M, Sano H, Iwaki D, Kudo K, Konishi M, Takahashi H, Takahashi T, Imaizumi H, Asai Y, Kuroki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "12817025", "url": "https://glygen.org/publication/PubMed/12817025" } ] }, { "title": "Mitochondrial release of AIF and EndoG requires caspase activation downstream of Bax/Bak-mediated permeabilization.", "journal": "The EMBO journal", "date": "2003", "authors": "Arnoult D, Gaume B, Karbowski M, Sharpe JC, Cecconi F, Youle RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-111458", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111458" } ], "reference": [ { "type": "PubMed", "id": "12941691", "url": "https://glygen.org/publication/PubMed/12941691" } ] }, { "title": "Surfactant proteins SP-A and SP-D: structure, function and receptors.", "journal": "Molecular immunology", "date": "2006", "authors": "Kishore U, Greenhough TJ, Waters P, Shrive AK, Ghai R, Kamran MF, Bernal AL, Reid KB, Madan T, Chakraborty T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "16213021", "url": "https://glygen.org/publication/PubMed/16213021" } ] }, { "title": "Surfactant protein A directly interacts with TLR4 and MD-2 and regulates inflammatory cellular response. Importance of supratrimeric oligomerization.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Yamada C, Sano H, Shimizu T, Mitsuzawa H, Nishitani C, Himi T, Kuroki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "16754682", "url": "https://glygen.org/publication/PubMed/16754682" } ] }, { "title": "Human pulmonary surfactant protein D binds the extracellular domains of Toll-like receptors 2 and 4 through the carbohydrate recognition domain by a mechanism different from its binding to phosphatidylinositol and lipopolysaccharide.", "journal": "Biochemistry", "date": "2006", "authors": "Ohya M, Nishitani C, Sano H, Yamada C, Mitsuzawa H, Shimizu T, Saito T, Smith K, Crouch E, Kuroki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5686938" } ], "reference": [ { "type": "PubMed", "id": "16834340", "url": "https://glygen.org/publication/PubMed/16834340" } ] }, { "title": "The extracellular release of HMGB1 during apoptotic cell death.", "journal": "American journal of physiology. 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"O60443", "url": "https://www.uniprot.org/uniprot/O60443" } ], "pmid": "" }, { "name": "positive regulation of immune response to tumor cell", "id": "GO:0002839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002839", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" } ], "pmid": "" }, { "name": "wide pore channel activity", "id": "GO:0022829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022829", "evidence": [ { "database": "UniProtKB", "id": "O60443", "url": "https://www.uniprot.org/uniprot/O60443" } ], "pmid": "" }, { "name": "cardiolipin binding", "id": "GO:1901612", "url": 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