{ "uniprot_canonical_ac": "O43734-1", "uniprot_ac": "O43734", "uniprot_id": "CIKS_HUMAN", "mass": { "chemical_mass": 64666.0, "monoisotopic_mass": 64666.0 }, "refseq": { "ac": "NP_001157753", "name": "E3 ubiquitin ligase TRAF3IP2 isoform 3", "summary": "This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, "gene_names": [ { "name": "TRAF3IP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43734", "id": "O43734" }, { "name": "ACT1; C6orf2; C6orf4; C6orf5; C6orf6; CANDF8; CIKS; PSORS13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753", "id": "NP_001157753" }, { "name": "C6orf2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43734", "id": "O43734" }, { "name": "C6orf4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43734", "id": "O43734" }, { "name": "C6orf5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43734", "id": "O43734" }, { "name": "C6orf6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43734", "id": "O43734" }, { "name": "TRAF3IP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753", "id": "NP_001157753" } ], "protein_names": [ { "name": "E3 ubiquitin ligase TRAF3IP2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43734" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43734" }, { "name": "ACT1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43734" }, { "name": "Adapter protein CIKS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43734" }, { "name": "Connection to IKK and SAPK/JNK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43734" }, { "name": "E3 ubiquitin ligase TRAF3IP2 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753", "id": "NP_001157753" }, { "name": "E3 ubiquitin-protein ligase CIKS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43734" }, { "name": "Nuclear factor NF-kappa-B activator 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43734" }, { "name": "TRAF3-interacting protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43734" }, { "name": "connection to IKK and SAPK/JNK; NFkB-activating protein ACT1; adapter protein CIKS; nuclear factor NF-kappa-B activator 1; symbol withdrawn, see C6orf4; E3 ubiquitin-protein ligase CIKS; E3 ubiquitin ligase TRAF3IP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753", "id": "NP_001157753" } ], "function": [ { "annotation": "A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, { "database": "PubMed", "id": "35642993", "url": "https://glygen.org/publication/PubMed/35642993" } ] }, { "annotation": "AlphaCT1 peptide sensitizes glioma cells to temozolomide in a glioblastoma organoid platform.", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, { "database": "PubMed", "id": "36544242", "url": "https://glygen.org/publication/PubMed/36544242" } ] }, { "annotation": "Data indicate that the newly identified alternatively spliced Act1 is a major transcript of the molecule and that Act1 may play important roles in oncogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, { "database": "PubMed", "id": "12163033", "url": "https://glygen.org/publication/PubMed/12163033" } ] }, { "annotation": "E3 ubiquitin ligase that catalyzes 'Lys-63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling (PubMed:19825828). Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substrate protein (PubMed:19825828). Essential adapter molecule in IL17A-mediated signaling (PubMed:19825828, PubMed:24120361). Upon IL17A stimulation, interacts with IL17RA and IL17RC receptor chains through SEFIR domains and catalyzes 'Lys-63'-linked polyubiquitination of TRAF6, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways (PubMed:19825828).", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734#function" }, { "database": "PubMed", "id": "24120361", "url": "https://glygen.org/publication/PubMed/24120361" }, { "database": "PubMed", "id": "33723527", "url": "https://glygen.org/publication/PubMed/33723527" }, { "database": "PubMed", "id": "19825828", "url": "https://glygen.org/publication/PubMed/19825828" } ] }, { "annotation": "Endogenous Act1 is recruited to the CD40 receptor in human intestinal (HT29) and cervical (HeLa) epithelial cells upon stimulation with CD40 ligand, indicating that Act1 is involved in this signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, { "database": "PubMed", "id": "12089335", "url": "https://glygen.org/publication/PubMed/12089335" } ] }, { "annotation": "Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, { "database": "PubMed", "id": "34140493", "url": "https://glygen.org/publication/PubMed/34140493" } ] }, { "annotation": "NF-kappaB Activator 1 downregulation in macrophages activates STAT3 to promote adenoma-adenocarcinoma transition and immunosuppression in colorectal cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, { "database": "PubMed", "id": "36978108", "url": "https://glygen.org/publication/PubMed/36978108" } ] }, { "annotation": "TRAF3IP2 regulated by FOXO4 affects fibroblast proliferation, migration, and extracellular matrix deposition in keloid through the TGF-beta1/Smad pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" }, { "database": "PubMed", "id": "35441794", "url": "https://glygen.org/publication/PubMed/35441794" } ] }, { "annotation": "This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ] } ], "disease": [ { "disease_id": "DOID:0111287", "recommended_name": { "id": "DOID:0111287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111287", "name": "psoriasis 13", "description": "A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21." }, "synonyms": [ { "id": "DOID:0111287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111287", "name": "PSORS13", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis 13, susceptibility to", "description": "Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "TRAF3IP2 psoriasis", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis 13, susceptibility to", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis caused by mutation in TRAF3IP2", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis susceptibility 13", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "PSORS13", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "susceptibility to psoriasis 13", "description": "" }, { "id": "MIM:614070", "resource": "MIM", "url": "https://www.omim.org/entry/614070", "name": "Psoriasis 13", "description": "Psoriasis 13" } ], "evidence": [ { "id": "614070", "database": "MIM", "url": "https://www.omim.org/entry/614070" } ] }, { "disease_id": "DOID:2058", "recommended_name": { "id": "DOID:2058", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp." }, "synonyms": [ { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial, 3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "CANDF3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial, 3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "Fcnc", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial chronic nail, with Icam1 deficiency", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial, 1", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "CANDF1", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial, 1", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial, 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "Cmct", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, 8", "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "TRAF3IP2 chronic mucocutaneous candidiasis (disease)", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, 8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, type 8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "CANDF8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4", "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "CLEC7A familial chronic mucocutaneous candidiasis", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4, autosomal recessive", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, type 4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "CANDF4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial chronic mucocutaneous", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "candidiasis, familial, 9", "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "IL17RC chronic mucocutaneous candidiasis (disease)", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "candidiasis, familial, 9", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "candidiasis, familial, type 9", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "CANDF9", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "predisposition to invasive fungal disease due to CARD9 deficiency", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, familial, 2, autosomal recessive", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, familial, type 2", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "invasive candidiasis-deep dermatophytosis syndrome", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CANDF2", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CARD9 deficiency", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CARD9 immunodeficiency", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, familial, 2", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial, 6", "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "IL17F familial chronic mucocutaneous candidiasis", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial, 6", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial, 6, autosomal dominant", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial, type 6", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "familial chronic mucocutaneous candidiasis caused by mutation in IL17F", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "CANDF6", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial chronic mucocutaneous, autosomal dominant", "description": "" }, { "id": "MIM:615527", "resource": "MIM", "url": "https://www.omim.org/entry/615527", "name": "Candidiasis, familial, 8", "description": "Candidiasis, familial, 8" }, { "id": "MIM:613108", "resource": "MIM", "url": "https://www.omim.org/entry/613108", "name": "Candidiasis, familial, 4", "description": "Candidiasis, familial, 4" }, { "id": "MIM:616445", "resource": "MIM", "url": "https://www.omim.org/entry/616445", "name": "Candidiasis, familial, 9", "description": "Candidiasis, familial, 9" }, { "id": "MIM:212050", "resource": "MIM", "url": "https://www.omim.org/entry/212050", "name": "Immunodeficiency 103, susceptibility to fungal infections", "description": "Immunodeficiency 103, susceptibility to fungal infections" }, { "id": "MIM:613956", "resource": "MIM", "url": "https://www.omim.org/entry/613956", "name": "Candidiasis, familial, 6", "description": "Candidiasis, familial, 6" } ], "evidence": [ { "id": "615527", "database": "MIM", "url": "https://www.omim.org/entry/615527" } ] } ], "snv": [ { "evidence": [ { "id": "rs33980500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33980500" }, { "id": "rs33980500", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs33980500" }, { "id": "rs33980500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33980500" }, { "id": "rs33980500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs33980500#frequency_tab" }, { "id": "rs33980500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs33980500" }, { "id": "20953186", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20953186" }, { "id": "20953188", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20953188" }, { "id": "22581863", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22581863" }, { "id": "24120361", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24120361" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 19, "end_pos": 19, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "6", "chr_pos": "111592059", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.08367", "site_lbl": "D19", "disease": [ { "disease_id": "DOID:2058", "recommended_name": { "id": "DOID:2058", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp." }, "synonyms": [ { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial, 3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "CANDF3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial, 3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "Fcnc", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, 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"candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, 8", "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "TRAF3IP2 chronic mucocutaneous candidiasis (disease)", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, 8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, type 8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "CANDF8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4", "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "CLEC7A familial chronic mucocutaneous candidiasis", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4, autosomal recessive", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, type 4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "CANDF4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial chronic mucocutaneous", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "candidiasis, familial, 9", "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "IL17RC chronic mucocutaneous candidiasis (disease)", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "candidiasis, familial, 9", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "candidiasis, familial, type 9", "description": "" }, { "id": "MONDO:0014642", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014642", "name": "chronic 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"MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CANDF2", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CARD9 deficiency", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CARD9 immunodeficiency", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, 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"description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "familial chronic mucocutaneous candidiasis caused by mutation in IL17F", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "CANDF6", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial chronic mucocutaneous, autosomal dominant", "description": "" }, { "id": "MIM:615527", "resource": "MIM", "url": "https://www.omim.org/entry/615527", "name": "Candidiasis, familial, 8", "description": "Candidiasis, familial, 8" }, { "id": "MIM:613108", "resource": "MIM", "url": "https://www.omim.org/entry/613108", "name": "Candidiasis, familial, 4", "description": "Candidiasis, familial, 4" }, { "id": "MIM:616445", "resource": "MIM", "url": "https://www.omim.org/entry/616445", "name": "Candidiasis, familial, 9", "description": "Candidiasis, familial, 9" }, { "id": "MIM:212050", "resource": "MIM", "url": "https://www.omim.org/entry/212050", "name": "Immunodeficiency 103, susceptibility to fungal infections", "description": "Immunodeficiency 103, susceptibility to fungal infections" }, { "id": "MIM:613956", "resource": "MIM", "url": "https://www.omim.org/entry/613956", "name": "Candidiasis, familial, 6", "description": "Candidiasis, familial, 6" } ] }, { "disease_id": "DOID:0111287", "recommended_name": { "id": "DOID:0111287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111287", "name": "psoriasis 13", "description": "A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21." }, "synonyms": [ { "id": "DOID:0111287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111287", "name": "PSORS13", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis 13, susceptibility to", "description": "Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "TRAF3IP2 psoriasis", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis 13, susceptibility to", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis caused by mutation in TRAF3IP2", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "psoriasis susceptibility 13", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "PSORS13", "description": "" }, { "id": "MONDO:0013554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013554", "name": "susceptibility to psoriasis 13", "description": "" }, { "id": "MIM:614070", "resource": "MIM", "url": "https://www.omim.org/entry/614070", "name": "Psoriasis 13", "description": "Psoriasis 13" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1562433144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562433144" }, { "id": "rs1562433144", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562433144" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 263, "end_pos": 263, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "6", "chr_pos": "111591327", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N263", "disease": [ { "disease_id": "DOID:2058", "recommended_name": { "id": "DOID:2058", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp." }, "synonyms": [ { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial, 3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "CANDF3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial, 3", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "Fcnc", "description": "" }, { "id": "MONDO:0011880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011880", "name": "candidiasis, familial chronic nail, with Icam1 deficiency", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial, 1", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "CANDF1", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial, 1", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial, 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "Cmct", "description": "" }, { "id": "MONDO:0007257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007257", "name": "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, 8", "description": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "TRAF3IP2 chronic mucocutaneous candidiasis (disease)", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, 8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial, type 8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "CANDF8", "description": "" }, { "id": "MONDO:0014230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014230", "name": "candidiasis, familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4", "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "CLEC7A familial chronic mucocutaneous candidiasis", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, 4, autosomal recessive", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013140", "name": "candidiasis, familial, type 4", "description": "" }, { "id": "MONDO:0013140", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0008905", "name": "invasive candidiasis-deep dermatophytosis syndrome", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CANDF2", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CARD9 deficiency", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "CARD9 immunodeficiency", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, familial chronic mucocutaneous, autosomal recessive", "description": "" }, { "id": "MONDO:0008905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008905", "name": "candidiasis, familial, 2", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial, 6", "description": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "IL17F familial chronic mucocutaneous candidiasis", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial, 6", "description": "" }, { "id": "MONDO:0013503", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013503", "name": "candidiasis, familial, 6, autosomal dominant", "description": "" 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43734", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43734" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43734", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43734" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "common_name": "Human" } ], "gene": [ { "name": "TRAF3IP2", "url": "https://www.uniprot.org/uniprot/O43734", "locus": { "chromosome": "6", "start_pos": 111555381, "end_pos": 111606906, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000056972", "url": "https://www.ensembl.org/id/ENSG00000056972" } ] } } ], "crossref": [ { "id": "ENSG00000056972", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000056972", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43734", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43734", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL4523586", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4523586", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TRAF3IP2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10758", "url": "https://www.ncbi.nlm.nih.gov/gene/10758", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2015", "url": "https://glyconnect.expasy.org/browser/proteins/2015", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "1343", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1343", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43734", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43734*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR013568", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013568", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10758", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10758", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "607043", "url": "http://www.omim.org/entry/607043", "database": "MIM", "categories": [ "Other" ] }, { "id": "614070", "url": "http://www.omim.org/entry/614070", "database": "MIM", "categories": [ "Other" ] }, { "id": "615527", "url": "http://www.omim.org/entry/615527", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43734", "url": "https://www.nextprot.org/entry/NX_O43734", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "CPSDNFP", "url": "https://omabrowser.org/oma/group/CPSDNFP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2950388at2759", "url": "http://www.orthodb.org/?query=2950388at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR34257", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR34257", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR34257:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR34257:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF08357", "url": "http://pfam.xfam.org/family/PF08357", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43734", "url": "https://pharos.nih.gov/targets/O43734", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050753", "url": "https://proconsortium.org/app/entry/PR:000050753", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050754", "url": "https://proconsortium.org/app/entry/PR:000050754", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050755", "url": "https://proconsortium.org/app/entry/PR:000050755", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O43734", "url": "http://purl.obolibrary.org/obo/PR_O43734", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43734", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A494C0G2", "url": "https://www.uniprot.org/uniprot/A0A494C0G2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0G2-1", "url": "https://www.uniprot.org/uniprot/A0A494C0G2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0I3", "url": "https://www.uniprot.org/uniprot/A0A494C0I3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0I3-1", "url": "https://www.uniprot.org/uniprot/A0A494C0I3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0R7", "url": "https://www.uniprot.org/uniprot/A0A494C0R7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0R7-1", "url": "https://www.uniprot.org/uniprot/A0A494C0R7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C1J9", "url": "https://www.uniprot.org/uniprot/A0A494C1J9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C1J9-1", "url": "https://www.uniprot.org/uniprot/A0A494C1J9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQD6", "url": "https://www.uniprot.org/uniprot/A0A8V8TQD6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQD6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQD6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43734-1", "url": "https://www.uniprot.org/uniprot/O43734-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43734-2", "url": "https://www.uniprot.org/uniprot/O43734-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43734-3", "url": "https://www.uniprot.org/uniprot/O43734-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43734-4", "url": "https://www.uniprot.org/uniprot/O43734-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43734-5", "url": "https://www.uniprot.org/uniprot/O43734-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPPQLQETRMNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPTMLHNSSGDFSQAHSTLKLANHQRPVSRQVTCLRTQVLEDSEDSFCRRHPGLGKAFPSGCSAVSEPASESVVGALPAEHQFSFMEKRNQWLVSQLSAASPDTGHDSDKSDQSLPNASADSLGGSQEMVQRPQPHRNRAGLDLPTIDTGYDSQPQDVLGIRQLERPLPLTSVCYPQDLPRPLRSREFPQFEPQRYPACAQMLPPNLSPHAPWNYHYHCPGSPDHQVPYGHDYPRAAYQQVIQPALPGQPLPGASVRGLHPVQKVILNYPSPWDHEERPAQRDCSFPGLPRHQDQPHHQPPNRAGAPGESLECPAELRPQVPQPPSPAAVPRPPSNPPARGTLKTSNLPEELRKVFITYSMDTAMEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 574, "header": "sp|O43734-1|CIKS_HUMAN Isoform 1 of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=3 CANONICAL=O43734-1" }, "isoforms": [ { "isoform_ac": "A0A494C0G2-1", "url": "", "sequence": { "sequence": "MNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPTMLHNSSGDFS", "length": 61, "header": "tr|A0A494C0G2-1|CIKS_HUMAN Computationally mapped isoform of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=1 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111592086, "end_pos": 111591904, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650649.1", "url": "https://www.ensembl.org/id/ENST00000650649.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498534.1", "url": "https://www.ensembl.org/id/ENSP00000498534.1" } ] } }, { "isoform_ac": "A0A494C0I3-1", "url": "", "sequence": { "sequence": "MIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEF", "length": 41, "header": "tr|A0A494C0I3-1|CIKS_HUMAN Computationally mapped isoform of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=1 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111566551, "end_pos": 111563025, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464903.1", "url": "https://www.ensembl.org/id/ENST00000464903.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498559.1", "url": "https://www.ensembl.org/id/ENSP00000498559.1" } ] } }, { "isoform_ac": "A0A494C0R7-1", "url": "", "sequence": { "sequence": "ESQLDEDEHGLHTKYIHRMEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 67, "header": "tr|A0A494C0R7-1|CIKS_HUMAN Computationally mapped isoform of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=1 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111566500, "end_pos": 111559408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492671.1", "url": "https://www.ensembl.org/id/ENST00000492671.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498694.1", "url": "https://www.ensembl.org/id/ENSP00000498694.1" } ] } }, { "isoform_ac": "A0A494C1J9-1", "url": "", "sequence": { "sequence": "MNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPTMLHNSSGDFSQAHSTLKLANHQRPVSRQVTCLRTQVLEDSEDSFCRRHPGLGKA", "length": 105, "header": "tr|A0A494C1J9-1|CIKS_HUMAN Computationally mapped isoform of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=1 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111592086, "end_pos": 111591772, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651359.1", "url": "https://www.ensembl.org/id/ENST00000651359.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499070.1", "url": "https://www.ensembl.org/id/ENSP00000499070.1" } ] } }, { "isoform_ac": "A0A8V8TQD6-1", "url": "", "sequence": { "sequence": "MNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPTMLHNSSGDFSQAHSTLKLANHQRPVSRQVTCLRTQVLEDSEDSFCRRHPGLGKAFPSGCSAVSEPASESVVGALPAEHQFSFMEKRNQWLVSQLSAASPDTGHDSDKSDQSLPNASADSLGGSQEMVQRPQPHRNRAGLDLPTIDTGYDSQPQDVLGIRQLERPLPLTSVCYPQDLPRPLRSREFPQFEPQRYPACAQMLPPNLSPHAPWNYHYHCPGSPDHQVPYGHDYPRAAYQQVIQPALPGQPLPGASVRGLHPVQKVILNYPSPWDHEERPAQRDCSFPGLPRHQDQPHHQPPNRAGAPGESLECPAELRPQVPQPPSPAAVPRPPSNPPARGTLKTSNLPEELRKVFITYSMDTAMEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKVNKQRNKILIIQSLVCFAIWDFKWKTLSILFFFLFFFFFFEMESRCVAQPGVQWRDLGSLQPLPPGFK", "length": 585, "header": "tr|A0A8V8TQD6-1|CIKS_HUMAN Computationally mapped isoform of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=1 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111592086, "end_pos": 111562761, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699910.1", "url": "https://www.ensembl.org/id/ENST00000699910.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514682.1", "url": "https://www.ensembl.org/id/ENSP00000514682.1" } ] } }, { "isoform_ac": "O43734-1", "url": "", "sequence": { "sequence": "MPPQLQETRMNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPTMLHNSSGDFSQAHSTLKLANHQRPVSRQVTCLRTQVLEDSEDSFCRRHPGLGKAFPSGCSAVSEPASESVVGALPAEHQFSFMEKRNQWLVSQLSAASPDTGHDSDKSDQSLPNASADSLGGSQEMVQRPQPHRNRAGLDLPTIDTGYDSQPQDVLGIRQLERPLPLTSVCYPQDLPRPLRSREFPQFEPQRYPACAQMLPPNLSPHAPWNYHYHCPGSPDHQVPYGHDYPRAAYQQVIQPALPGQPLPGASVRGLHPVQKVILNYPSPWDHEERPAQRDCSFPGLPRHQDQPHHQPPNRAGAPGESLECPAELRPQVPQPPSPAAVPRPPSNPPARGTLKTSNLPEELRKVFITYSMDTAMEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 574, "header": "sp|O43734-1|CIKS_HUMAN Isoform 1 of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=3 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111601214, "end_pos": 111559408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340026.10", "url": "https://www.ensembl.org/id/ENST00000340026.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000345984.6", "url": "https://www.ensembl.org/id/ENSP00000345984.6" } ] } }, { "isoform_ac": "O43734-2", "url": "", "sequence": { "sequence": "MNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPTMLHNSSGDFSQAHSTLKLANHQRPVSRQVTCLRTQVLEDSEDSFCRRHPGLGKAFPSGCSAVSEPASESVVGALPAEHQFSFMEKRNQWLVSQLSAASPDTGHDSDKSDQSLPNASADSLGGSQEMVQRPQPHRNRAGLDLPTIDTGYDSQPQDVLGIRQLERPLPLTSVCYPQDLPRPLRSREFPQFEPQRYPACAQMLPPNLSPHAPWNYHYHCPGSPDHQVPYGHDYPRAAYQQVIQPALPGQPLPGASVRGLHPVQKVILNYPSPWDHEERPAQRDCSFPGLPRHQDQPHHQPPNRAGAPGESLECPAELRPQVPQPPSPAAVPRPPSNPPARGTLKTSNLPEELRKVFITYSMDTAMEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 565, "header": "sp|O43734-2|CIKS_HUMAN Isoform 2 of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=3 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111592086, "end_pos": 111559408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368761.11", "url": "https://www.ensembl.org/id/ENST00000368761.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000357750.5", "url": "https://www.ensembl.org/id/ENSP00000357750.5" } ] } }, { "isoform_ac": "O43734-3", "url": "", "sequence": { "sequence": "MEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 153, "header": "sp|O43734-3|CIKS_HUMAN Isoform 3 of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=3 CANONICAL=O43734-1" }, "locus": {} }, { "isoform_ac": "O43734-4", "url": "", "sequence": { "sequence": "MIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 109, "header": "sp|O43734-4|CIKS_HUMAN Isoform 4 of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=3 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111566551, "end_pos": 111559408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368735.1", "url": "https://www.ensembl.org/id/ENST00000368735.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000357724.1", "url": "https://www.ensembl.org/id/ENSP00000357724.1" } ] } }, { "isoform_ac": "O43734-5", "url": "", "sequence": { "sequence": "MNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPTMLHNSSGDFSQAHSTLKLANHQRPVSRQVTCLRTQVLEDSEDSFCRRHPGLGKAFPSGCSAVSEPASESVVGALPAEHQFSFMEKRNQWLVSQLSAASPDTGHDSDKSDQSLPNASADSLGGSQEMVQRPQPHRNRAGLDLPTIDTGYDSQPQDVLGIRQLERPLPLTSVCYPQDLPRPLRSREFPQFEPQRYPACAQMLPPNLSPHAPWNYHYHCPGSPDHQVPYGHDYPRAAYQQVIQPALPGQPLPGASVRGLHPVQKVILNYPSPWDHEERPAQRDCSFPGLPRHQDQPHHQPPNRAGAPGESLECPAELRPQVPQPPSPAAVPRPPSNPPARGTLKTSNLPEELRKVFITYSMDTAMEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDTVMIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 564, "header": "sp|O43734-5|CIKS_HUMAN Isoform 5 of E3 ubiquitin ligase TRAF3IP2 OS=Homo sapiens OX=9606 GN=TRAF3IP2 PE=1 SV=3 CANONICAL=O43734-1" }, "locus": { "chromosome": "6", "start_pos": 111592086, "end_pos": 111559408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359831.8", "url": "https://www.ensembl.org/id/ENST00000359831.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000352889.4", "url": "https://www.ensembl.org/id/ENSP00000352889.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G11870QZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "2015", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2015" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G34730YF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "2015", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2015" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "2015", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2015" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "O43734", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G67324HN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "O43734", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G72791KH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "O43734", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] } ], "phosphorylation": [ { "start_pos": 328, "end_pos": 328, "kinase_uniprot_canonical_ac": "Q14164-1", "kinase_gene_name": "IKBKE", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43734", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43734" }, { "database": "PubMed", "id": "21822257", "url": "https://glygen.org/publication/PubMed/21822257" } ], "site_lbl": "Ser328" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning and characterization of two overlapping genes in a subregion at 6q21 involved in replicative senescence and schizophrenia.", "journal": "Gene", "date": "2000", "authors": "Morelli C, Magnanini C, Mungall AJ, Negrini M, Barbanti-Brodano G", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "reference": [ { "type": "PubMed", "id": "10903453", "url": "https://glygen.org/publication/PubMed/10903453" } ] }, { "title": "Act1, an NF-kappa B-activating protein.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Li X, Commane M, Nie H, Hua X, Chatterjee-Kishore M, Wald D, Haag M, Stark GR", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "reference": [ { "type": "PubMed", "id": "10962024", "url": "https://glygen.org/publication/PubMed/10962024" } ] }, { "title": "CIKS, a connection to Ikappa B kinase and stress-activated protein kinase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Leonardi A, Chariot A, Claudio E, Cunningham K, Siebenlist U", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "reference": [ { "type": "PubMed", "id": "10962033", "url": "https://glygen.org/publication/PubMed/10962033" } ] }, { "title": "Role of NF kappa B activator Act1 in CD40-mediated signaling in epithelial cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Qian Y, Zhao Z, Jiang Z, Li X", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ], "reference": [ { "type": "PubMed", "id": "12089335", "url": "https://glygen.org/publication/PubMed/12089335" } ] }, { "title": "Identification of alternatively spliced Act1 and implications for its roles in oncogenesis.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Xia YF, Li YD, Li X, Geng JG", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ], "reference": [ { "type": "PubMed", "id": "12163033", "url": "https://glygen.org/publication/PubMed/12163033" } ] }, { "title": "NF-kappaB activator Act1 associates with IL-1/Toll pathway adapter molecule TRAF6.", "journal": "FEBS Lett.", "date": "2002", "authors": "Kanamori Mutsumi, Kai Chikatoshi, Hayashizaki Yoshihide, Suzuki Harukazu", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "reference": [ { "type": "PubMed", "id": "12459498", "url": "https://glygen.org/publication/PubMed/12459498" } ] }, { "title": "Act1, a U-box E3 ubiquitin ligase for IL-17 signaling.", "journal": "Science signaling", "date": "2009", "authors": "Liu C, Qian W, Qian Y, Giltiay NV, Lu Y, Swaidani S, Misra S, Deng L, Chen ZJ, Li X", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "reference": [ { "type": "PubMed", "id": "19825828", "url": "https://glygen.org/publication/PubMed/19825828" } ] }, { "title": "Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.", "journal": "Nature genetics", "date": "2010", "authors": "Huffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Bohm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" }, { "database": "dbSNP", "id": "rs33980500", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33980500" } ], "reference": [ { "type": "PubMed", "id": "20953186", "url": "https://glygen.org/publication/PubMed/20953186" } ] }, { "title": "Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.", "journal": "Nature genetics", "date": "2010", "authors": "Ellinghaus E, Ellinghaus D, Stuart PE, Nair RP, Debrus S, Raelson JV, Belouchi M, Fournier H, Reinhard C, Ding J, Li Y, Tejasvi T, Gudjonsson J, Stoll SW, Voorhees JJ, Lambert S, Weidinger S, Eberlein B, Kunz M, Rahman P, Gladman DD, Gieger C, Wichmann HE, Karlsen TH, Mayr G, Albrecht M, Kabelitz D, Mrowietz U, Abecasis GR, Elder JT, Schreiber S, Weichenthal M, Franke A", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" }, { "database": "dbSNP", "id": "rs33980500", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33980500" } ], "reference": [ { "type": "PubMed", "id": "20953188", "url": "https://glygen.org/publication/PubMed/20953188" } ] }, { "title": "The inducible kinase IKKi is required for IL-17-dependent signaling associated with neutrophilia and pulmonary inflammation.", "journal": "Nature immunology", "date": "2011", "authors": "Bulek K, Liu C, Swaidani S, Wang L, Page RC, Gulen MF, Herjan T, Abbadi A, Qian W, Sun D, Lauer M, Hascall V, Misra S, Chance MR, Aronica M, Hamilton T, Li X", "evidence": [ { "database": "iPTMnet", "id": "O43734", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43734" } ], "reference": [ { "type": "PubMed", "id": "21822257", "url": "https://glygen.org/publication/PubMed/21822257" } ] }, { "title": "CIKS/Act1-mediated signaling by IL-17 cytokines in context: implications for how a CIKS gene variant may predispose to psoriasis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2012", "authors": "Sonder SU, Paun A, Ha HL, Johnson PF, Siebenlist U", "evidence": [ { "database": "dbSNP", "id": "rs33980500", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33980500" } ], "reference": [ { "type": "PubMed", "id": "22581863", "url": "https://glygen.org/publication/PubMed/22581863" } ] }, { "title": "An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.", "journal": "Immunity", "date": "2013", "authors": "Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, Puel A, Li X, Casanova JL", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" }, { "database": "dbSNP", "id": "rs33980500", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33980500" } ], "reference": [ { "type": "PubMed", "id": "24120361", "url": "https://glygen.org/publication/PubMed/24120361" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O43734", "url": "" }, { "database": "GlyConnect", "id": "2015", "url": "https://glyconnect.expasy.org/browser/proteins/2015" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "ORF8 contributes to cytokine storm during SARS-CoV-2 infection by activating IL-17 pathway.", "journal": "iScience", "date": "2021", "authors": "Lin X, Fu B, Yin S, Li Z, Liu H, Zhang H, Xing N, Wang Y, Xue W, Xiong Y, Zhang S, Zhao Q, Xu S, Zhang J, Wang P, Nian W, Wang X, Wu H", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "reference": [ { "type": "PubMed", "id": "33723527", "url": "https://glygen.org/publication/PubMed/33723527" } ] }, { "title": "Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified.", "journal": "Nature communications", "date": "2021", "authors": "Debackere K, Marcelis L, Demeyer S, Vanden Bempt M, Mentens N, Gielen O, Jacobs K, Broux M, Verhoef G, Michaux L, Graux C, Wlodarska I, Gaulard P, de Leval L, Tousseyn T, Cools J, Dierickx D", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ], "reference": [ { "type": "PubMed", "id": "34140493", "url": "https://glygen.org/publication/PubMed/34140493" } ] }, { "title": "TRAF3IP2 regulated by FOXO4 affects fibroblast proliferation, migration, and extracellular matrix deposition in keloid through the TGF-\u03b21/Smad pathway.", "journal": "Journal of cosmetic dermatology", "date": "2022-10", "authors": "Yan Qiaoyu, Li Bin", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ], "reference": [ { "type": "PubMed", "id": "35441794", "url": "https://glygen.org/publication/PubMed/35441794" } ] }, { "title": "A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients.", "journal": "Immunobiology", "date": "2022", "authors": "De Benedittis G, Latini A, Conigliaro P, Triggianese P, Bergamini A, Novelli L, Ciccacci C, Chimenti MS, Borgiani P", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ], "reference": [ { "type": "PubMed", "id": "35642993", "url": "https://glygen.org/publication/PubMed/35642993" } ] }, { "title": "\u03b1CT1 peptide sensitizes glioma cells to temozolomide in a glioblastoma organoid platform.", "journal": "Biotechnology and bioengineering", "date": "2022-12-21", "authors": "Che Jingru, DePalma Thomas J, Sivakumar Hemamylammal, Mezache Louisa S, Tallman Miranda M, Venere Monica, Swindle-Reilly Katelyn, Veeraraghavan Rengasayee, Skardal Aleksander", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ], "reference": [ { "type": "PubMed", "id": "36544242", "url": "https://glygen.org/publication/PubMed/36544242" } ] }, { "title": "NF-\u03baB Activator 1 downregulation in macrophages activates STAT3 to promote adenoma-adenocarcinoma transition and immunosuppression in colorectal cancer.", "journal": "BMC medicine", "date": "2023-03-29", "authors": "Wang Shunyi, Kuai Yihe, Lin Simin, Li Li, Gu Quliang, Zhang Xiaohan, Li Xiaoming, He Yajun, Chen Sishuo, Xia Xiaoru, Ruan Zhang, Lin Caixia, Ding Yi, Zhang Qianqian, Qi Cuiling, Li Jiangchao, He Xiaodong, Pathak Janak L, Zhou Weijie, Liu Side, Wang Lijing, Zheng Lingyun", "evidence": [ { "database": "RefSeq", "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753" } ], "reference": [ { "type": "PubMed", "id": "36978108", "url": "https://glygen.org/publication/PubMed/36978108" } ] } ], "pathway": [ { "id": "hsa:10758", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10758", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6GLR0-1", "protein_name": "Traf3 interacting protein 2", "gene_name": "Traf3ip2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNRSIPVEVDESEPFPSQLLNPIPESSPEEELEPPAPNTRNTAPSSLSVLQRPPLKLANHQPVSQQVTCLRAKVLEESEASFLRRHPDLGKDVSSCSSEASEPGSELGALSLEHRFTHMEKRDRWLGPQLSAASPDTGHDSDKSDPSLPMALADSSSSDQEMRPRPGSRPRPWPRHHRNRAAPDVPTIDTGYDSQPQDVLGIRQLEKPLPLTSSCYLQDLPGPLRSKEFPQFELQRYPANAPMLPLDPSPQVPWSYQYCRPGGPYHHQAPYGHGYPPAAAYQQVIQPALPEQALLGARVRGLHPMQKVVLNDSSPQDQEERPAQRDFSFSRLPRDRLCRPPSNGAGAPEESLDRPAELRPHGPQALSPAAVPRPPSNPLARGTLKTSNLPEELRKVFITYSMDTAMEVVKCVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVEGTGSQLDEDEHGLHTKYIHRMLSVSCLHIPRTPTFCLHLKNLPVSGTSSWCLGRTPGPYQFLDKPV", "length": 530 }, "evidence": [ { "id": "O43734", "url": "https://omabrowser.org/oma/group/O43734/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8N7N6-1", "protein_name": "E3 ubiquitin ligase TRAF3IP2", "gene_name": "Traf3ip2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNRSIPVEVDESEPFPSQLLKPIPEYSPEEELEPPAPNTRNMAPSSLSVLQCPPLKLANHQPVSQQVTCLRAKVLEEGEASFFRRHPELGKDISSCSSGASEPESELGALPPEHRFTLTEKRNRWLGSQLSAASPDTGHESDKSDPSLPNALADSFSGGQEMMPRPRPRPGPHRHRAAPDVPTIDTGYDSQPQDVLGIRQLERPLPLTSSCYLQDLPGPLRSRELPPQFELERYPMNAQLLPPHPSPQAPWNCQYYCPGGPYHHQVPHGHGYPPAAAYQQVLQPALPGQVLPGARARGPRPVQKVILNDSSPQDQEERPAQRDFSFPRLPRDQLYRPPSNGVEAPEESLDLPAELRPHGPQAPSLAAVPRPPSNPLARGTLRTSNLPEELRKVFITYSMDTAMEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVEGAESQLDEDEHGLHTKYIHRMMQIEFISQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYSWPKNKKNILLRLLREEEYVAPPRGPLPTLQVVPL", "length": 555 }, "evidence": [ { "id": "45923853", "url": "http://www.informatics.jax.org/homology/45923853", "database": "MGI" }, { "id": "O43734", "url": "https://omabrowser.org/oma/group/O43734/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 33, "go_terms": [ { "name": "CD40 signaling pathway", "id": "GO:0023035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023035", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "spleen development", "id": "GO:0048536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048536", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "mucus secretion", "id": "GO:0070254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070254", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "B cell apoptotic process", "id": "GO:0001783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001783", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "neutrophil activation", "id": "GO:0042119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042119", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "type 2 immune response", "id": "GO:0042092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042092", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "B cell affinity maturation", "id": "GO:0002344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002344", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "establishment of T cell polarity", "id": "GO:0001768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001768", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "protein localization to P-body", "id": "GO:0110012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110012", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "transitional two stage B cell differentiation", "id": "GO:0002334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002334", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "eosinophil mediated immunity", "id": "GO:0002447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002447", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "interleukin-17A-mediated signaling pathway", "id": "GO:0038173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038173", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "eosinophil homeostasis", "id": "GO:1990959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990959", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "interleukin-17-mediated signaling pathway", "id": "GO:0097400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097400", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "leukocyte activation involved in inflammatory response", "id": "GO:0002269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002269", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "T-helper 17 type immune response", "id": "GO:0072538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072538", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43734", "url": "https://www.uniprot.org/uniprot/O43734" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "adapter protein CIKS N-glycosylated 1 (human)", "definition": "An adapter protein CIKS (human) that has been N-glycosylated at the residue equivalent to Asn-263 of the amino acid sequence represented by UniProtKB:O43734-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:O43734-1, Asn-263, MOD:00160~GNO:G41247ZX. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050753", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050753" } ] }, { "name": "adapter protein CIKS N-glycosylated 2 (human)", "definition": "An adapter protein CIKS (human) that has been N-glycosylated at the residue equivalent to Asn-263 of the amino acid sequence represented by UniProtKB:O43734-1, in which the glycan composition is represented by GlyTouCan:G67324HN. Example: UniProtKB:O43734-1, Asn-263, MOD:00160~GNO:G67324HN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050754", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050754" } ] }, { "name": "adapter protein CIKS N-glycosylated 3 (human)", "definition": "An adapter protein CIKS (human) that has been N-glycosylated at the residue equivalent to Asn-263 of the amino acid sequence represented by UniProtKB:O43734-1, in which the glycan composition is represented by GlyTouCan:G72791KH. Example: UniProtKB:O43734-1, Asn-263, MOD:00160~GNO:G72791KH. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050755", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050755" } ] } ], "site_annotation": [ { "start_pos": 11, "end_pos": 13, "annotation": "n_glycosylation_sequon" }, { "start_pos": 174, "end_pos": 176, "annotation": "n_glycosylation_sequon" }, { "start_pos": 263, "end_pos": 265, "annotation": "n_glycosylation_sequon" }, { "start_pos": 64, "end_pos": 66, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 263 ], "o_linked_sites": [], "snv_sites": [ 19, 49, 52, 263, 264, 265, 337, 462, 546 ], "glycation_sites": [], "phosphorylation_sites": [ 328 ], "sequon_annotation_sites": [ { "start_pos": 11, "end_pos": 13 }, { "start_pos": 174, "end_pos": 176 }, { "start_pos": 263, "end_pos": 265 }, { "start_pos": 64, "end_pos": 66 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 19 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }