{ "uniprot_canonical_ac": "Q8WXF8-1", "uniprot_ac": "Q8WXF8", "uniprot_id": "DEDD2_HUMAN", "mass": { "chemical_mass": 36179.0, "monoisotopic_mass": 36179.0 }, "refseq": { "ac": "NP_001257543", "name": "DNA-binding death effector domain-containing protein 2 isoform 1", "summary": "This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543" }, "gene_names": [ { "name": "DEDD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8WXF8", "id": "Q8WXF8" }, { "name": "DEDD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543", "id": "NP_001257543" }, { "name": "FLAME-3; FLAME3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543", "id": "NP_001257543" }, { "name": "FLAME3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8WXF8", "id": "Q8WXF8" }, { "name": "PSEC0004", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8WXF8", "id": "Q8WXF8" } ], "protein_names": [ { "name": "DNA-binding death effector domain-containing protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8WXF8" }, { "name": "DED-containing protein FLAME-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WXF8" }, { "name": "DNA-binding death effector domain-containing protein 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543", "id": "NP_001257543" }, { "name": "DNA-binding death effector domain-containing protein 2; FADD-like anti-apoptotic molecule 3; DED-containing protein FLAME-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543", "id": "NP_001257543" }, { "name": "FADD-like anti-apoptotic molecule 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WXF8" } ], "function": [ { "annotation": "DEDD and DEDD2 may be important mediators for death receptors and that they may target caspases to the nucleus.", "evidence": [ { "database": "RefSeq", "id": "NP_001257543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543" }, { "database": "PubMed", "id": "12527898", "url": "https://glygen.org/publication/PubMed/12527898" } ] }, { "annotation": "FLAME-3 forms nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC", "evidence": [ { "database": "RefSeq", "id": "NP_001257543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543" }, { "database": "PubMed", "id": "11965497", "url": "https://glygen.org/publication/PubMed/11965497" } ] }, { "annotation": "May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3.", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8#function" } ] }, { "annotation": "This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001257543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q8WXF8", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8WXF8" } ], "glycoeffect": [], "start_pos": 186, "end_pos": 186, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "42209733", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A186", "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. 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"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 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"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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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": "" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160570", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160570" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160570", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160570" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160570", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160570" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160570", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160570" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160570", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160570" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160570", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160570" } ] }, { "tissue": { "name": "Thyroid 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"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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8WXF8" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"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": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "Q8WXF8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8WXF8" } ], "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": 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"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, 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"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": "" 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"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": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" } ], "common_name": "Human" } ], "gene": [ { "name": "DEDD2", "url": "https://www.uniprot.org/uniprot/Q8WXF8", "locus": { "chromosome": "19", "start_pos": 42198598, "end_pos": 42220140, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000160570", "url": "https://www.ensembl.org/id/ENSG00000160570" } ] } } ], "crossref": [ { "id": "ENSG00000160570", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160570", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q8WXF8", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8WXF8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "DEDD2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEDD2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "162989", "url": "https://www.ncbi.nlm.nih.gov/gene/162989", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "24450", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24450", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q8WXF8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q8WXF8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001875", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001875", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011029", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011029", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038856", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038856", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:162989", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:162989", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_Q8WXF8", "url": "https://www.nextprot.org/entry/NX_Q8WXF8", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "AFWSDYM", "url": "https://omabrowser.org/oma/group/AFWSDYM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3058503at2759", "url": "http://www.orthodb.org/?query=3058503at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15205", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15205", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15205:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15205:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01335", "url": "http://pfam.xfam.org/family/PF01335", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8WXF8", "url": "https://pharos.nih.gov/targets/Q8WXF8", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8WXF8", "url": "http://purl.obolibrary.org/obo/PR_Q8WXF8", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001257543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "M0QXK7", "url": "https://www.uniprot.org/uniprot/M0QXK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QXK7-1", "url": "https://www.uniprot.org/uniprot/M0QXK7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QYK9", "url": "https://www.uniprot.org/uniprot/M0QYK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QYK9-1", "url": "https://www.uniprot.org/uniprot/M0QYK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8WXF8-1", "url": "https://www.uniprot.org/uniprot/Q8WXF8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8WXF8-2", "url": "https://www.uniprot.org/uniprot/Q8WXF8-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALSGSTPAPCWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAAGGLARARSGLELLLELERRGQCDESNLRLLGQLLRVLARHDLLPHLARKRRRPVSPERYSYGTSSSSKRTEGSCRRRRQSSSSANSQQGQWETGSPPTKRQRRSRGRPSGGARRRRRGAPAAPQQQSEPARPSSEGKVTCDIRLRVRAEYCEHGPALEQGVASRRPQALARQLDVFGQATAVLRSRDLGSVVCDIKFSELSYLDAFWGDYLSGALLQALRGVFLTEALREAVGREAVRLLVSVDEADYEAGRRRLLLMEEEGGRRPTEAS", "length": 326, "header": "sp|Q8WXF8-1|DEDD2_HUMAN Isoform 1 of DNA-binding death effector domain-containing protein 2 OS=Homo sapiens OX=9606 GN=DEDD2 PE=1 SV=1 CANONICAL=Q8WXF8-1" }, "isoforms": [ { "isoform_ac": "M0QXK7-1", "url": "", "sequence": { "sequence": "MALSGSTPAPCWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAAGGLARARSGLELLLELERRGQCDESNLRLLGQLLRVLARHDLLPHLARKRRRPVSPERYSYGTSSSSKRTEGSCRRRRQSSSSANSQQGQWETGSPPTKRQRRSRGRPSGGARRRRRGAPAAPQQQSEPARPSSEGKVTCDGETGSER", "length": 204, "header": "tr|M0QXK7-1|DEDD2_HUMAN Computationally mapped isoform of DNA-binding death effector domain-containing protein 2 OS=Homo sapiens OX=9606 GN=DEDD2 PE=1 SV=1 CANONICAL=Q8WXF8-1" }, "locus": { "chromosome": "19", "start_pos": 42217007, "end_pos": 42202050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598727.5", "url": "https://www.ensembl.org/id/ENST00000598727.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000469233.1", "url": "https://www.ensembl.org/id/ENSP00000469233.1" } ] } }, { "isoform_ac": "M0QYK9-1", "url": "", "sequence": { "sequence": "MALSGSTPAPCWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAAGGLARARSGLELLLELERRGQCDESNLRLLGQLLRVLARHDLLPHLARKRRRPVSPERYSY", "length": 117, "header": "tr|M0QYK9-1|DEDD2_HUMAN Computationally mapped isoform of DNA-binding death effector domain-containing protein 2 OS=Homo sapiens OX=9606 GN=DEDD2 PE=1 SV=8 CANONICAL=Q8WXF8-1" }, "locus": { "chromosome": "19", "start_pos": 42217007, "end_pos": 42215230, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598200.1", "url": "https://www.ensembl.org/id/ENST00000598200.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000469898.1", "url": "https://www.ensembl.org/id/ENSP00000469898.1" } ] } }, { "isoform_ac": "Q8WXF8-1", "url": "", "sequence": { "sequence": "MALSGSTPAPCWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAAGGLARARSGLELLLELERRGQCDESNLRLLGQLLRVLARHDLLPHLARKRRRPVSPERYSYGTSSSSKRTEGSCRRRRQSSSSANSQQGQWETGSPPTKRQRRSRGRPSGGARRRRRGAPAAPQQQSEPARPSSEGKVTCDIRLRVRAEYCEHGPALEQGVASRRPQALARQLDVFGQATAVLRSRDLGSVVCDIKFSELSYLDAFWGDYLSGALLQALRGVFLTEALREAVGREAVRLLVSVDEADYEAGRRRLLLMEEEGGRRPTEAS", "length": 326, "header": "sp|Q8WXF8-1|DEDD2_HUMAN Isoform 1 of DNA-binding death effector domain-containing protein 2 OS=Homo sapiens OX=9606 GN=DEDD2 PE=1 SV=1 CANONICAL=Q8WXF8-1" }, "locus": { "chromosome": "19", "start_pos": 42217007, "end_pos": 42199441, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000595337.5", "url": "https://www.ensembl.org/id/ENST00000595337.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470082.1", "url": "https://www.ensembl.org/id/ENSP00000470082.1" } ] } }, { "isoform_ac": "Q8WXF8-2", "url": "", "sequence": { "sequence": "MALSGSTPAPCWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAAGGLARARSGLELLLELERRGQCDESNLRLLGQLLRVLARHDLLPHLARKRRRPVSPERYSYGTSSSSKRTEGSCRRRRQSSSSANSQQGSPPTKRQRRSRGRPSGGARRRRRGAPAAPQQQSEPARPSSEGKVTCDIRLRVRAEYCEHGPALEQGVASRRPQALARQLDVFGQATAVLRSRDLGSVVCDIKFSELSYLDAFWGDYLSGALLQALRGVFLTEALREAVGREAVRLLVSVDEADYEAGRRRLLLMEEEGGRRPTEAS", "length": 321, "header": "sp|Q8WXF8-2|DEDD2_HUMAN Isoform 2 of DNA-binding death effector domain-containing protein 2 OS=Homo sapiens OX=9606 GN=DEDD2 PE=1 SV=1 CANONICAL=Q8WXF8-1" }, "locus": { "chromosome": "19", "start_pos": 42217007, "end_pos": 42199441, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000336034.8", "url": "https://www.ensembl.org/id/ENST00000336034.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000336972.4", "url": "https://www.ensembl.org/id/ENSP00000336972.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification and characterization of DEDD2, a death effector domain-containing protein.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Roth W, Stenner-Liewen F, Pawlowski K, Godzik A, Reed JC", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" } ], "reference": [ { "type": "PubMed", "id": "11741985", "url": "https://glygen.org/publication/PubMed/11741985" } ] }, { "title": "Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC.", "journal": "Cell Death Differ.", "date": "2002", "authors": "Zhan Y, Hegde R, Srinivasula SM, Fernandes-Alnemri T, Alnemri ES", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" }, { "database": "RefSeq", "id": "NP_001257543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543" } ], "reference": [ { "type": "PubMed", "id": "11965497", "url": "https://glygen.org/publication/PubMed/11965497" } ] }, { "title": "DEDD regulates degradation of intermediate filaments during apoptosis.", "journal": "J. Cell Biol.", "date": "2002", "authors": "Lee JC, Schickling O, Stegh AH, Oshima RG, Dinsdale D, Cohen GM, Peter ME", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" } ], "reference": [ { "type": "PubMed", "id": "12235123", "url": "https://glygen.org/publication/PubMed/12235123" } ] }, { "title": "DEDD and DEDD2 associate with caspase-8/10 and signal cell death.", "journal": "Oncogene", "date": "2003", "authors": "Alcivar A, Hu S, Tang J, Yang X", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" }, { "database": "RefSeq", "id": "NP_001257543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257543" } ], "reference": [ { "type": "PubMed", "id": "12527898", "url": "https://glygen.org/publication/PubMed/12527898" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] } ], "pathway": [ { "id": "hsa:162989", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:162989", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "M0R7V1-1", "protein_name": "Death effector domain containing 2", "gene_name": "Dedd2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALSGSTPAPSWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAPGGLARARSGLELLLELERRGQCDESNLRLLSQLLRVLARHDLLPHLARKRRRPVSPERYSYGNSSSSSKRTEDSGRCRRRASSSSHSPQSQWDTGSPPTKRQRRSQGRPSSGARQRRRAGLAASQQQQQQQQEPGRSSSEGKVTCDIRLRVRAEYCEHGPALEQGVASRRPQALARQLDVFGQATAVLRSRDLGSVVCDIKFSELSYLDAFWGDYLSGALLQALRGVFLTEALREAVGREAVRLLVSVDEADYEAGRRRLLLMEEEEGRRGTEAS", "length": 331 }, "evidence": [ { "id": "45224997", "url": "http://www.informatics.jax.org/homology/45224997", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8QZV0-1", "protein_name": "DNA-binding death effector domain-containing protein 2", "gene_name": "Dedd2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALSGSTPAPSWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAPGGLARARSGLELLLELERRGQCDESNLRLLSQLLRVLARHDLLPHLARKRRRPVSPERYSYGNPSSSSKRTEDSCRRRRQASSSSDSPQSQWDTGSPPTKRQRRSRGRPSSGARQRRRAGLAASQQHQQHQELGRPSSEGKVTCDIRLRVRAEYCEHGPALEQGVASRRPQALARQLDVFGQATAVLRSRDLGSVVCDIKFSELSYLDAFWGDYLSGALLQALRGVFLTEALREAVGREAVRLLVSVDEADYEAGRRRLLLMEEEGGRRGTEAS", "length": 330 }, "evidence": [ { "id": "45224997", "url": "http://www.informatics.jax.org/homology/45224997", "database": "MGI" }, { "id": "Q8WXF8", "url": "https://omabrowser.org/oma/group/Q8WXF8/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": 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{ "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "Q8WXF8", "url": "https://www.uniprot.org/uniprot/Q8WXF8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "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 } ], 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