{ "uniprot_canonical_ac": "O75478-1", "uniprot_ac": "O75478", "uniprot_id": "TAD2A_HUMAN", "mass": { "chemical_mass": 51506.0, "monoisotopic_mass": 51506.0 }, "refseq": { "ac": "NP_001159577", "name": "transcriptional adapter 2-alpha isoform a", "summary": "Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577" }, "gene_names": [ { "name": "TADA2A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75478", "id": "O75478" }, { "name": "ADA2; ADA2A; hADA2; KL04P; TADA2L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577", "id": "NP_001159577" }, { "name": "KL04P", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75478", "id": "O75478" }, { "name": "TADA2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577", "id": "NP_001159577" }, { "name": "TADA2L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75478", "id": "O75478" }, { "name": "hCG_28187", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75478", "id": "O75478" } ], "protein_names": [ { "name": "Transcriptional adapter 2-alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75478" }, { "name": "ADA2-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75478" }, { "name": "Transcriptional adapter 2-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75478" }, { "name": "transcriptional adapter 2-alpha isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577", "id": "NP_001159577" }, { "name": "transcriptional adaptor 2 alpha; transcriptional adapter 2-alpha; ADA2-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577", "id": "NP_001159577" } ], "function": [ { "annotation": "ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis.", "evidence": [ { "database": "RefSeq", "id": "NP_001159577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577" }, { "database": "PubMed", "id": "36472692", "url": "https://glygen.org/publication/PubMed/36472692" } ] }, { "annotation": "CircTADA2A up-regulates MAPK8 by targeting MiR-214-3p and recruiting EIF4A3 to promote the invasion and migration of non-small cell lung cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001159577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577" }, { "database": "PubMed", "id": "36193940", "url": "https://glygen.org/publication/PubMed/36193940" } ] }, { "annotation": "Circular RNA TADA2A promotes proliferation and migration via modulating of miR638/KIAA0101 signal in nonsmall cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001159577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577" }, { "database": "PubMed", "id": "34296306", "url": "https://glygen.org/publication/PubMed/34296306" } ] }, { "annotation": "Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double-stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity (PubMed:22644376). May also promote XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage (PubMed:22644376).", "evidence": [ { "database": "UniProtKB", "id": "O75478", "url": "https://www.uniprot.org/uniprot/O75478#function" }, { "database": "PubMed", "id": "22644376", "url": "https://glygen.org/publication/PubMed/22644376" }, { "database": "UniProtKB", "id": "Q8CHV6", "url": "https://www.uniprot.org/uniprot/Q8CHV6#function" }, { "database": "PubMed", "id": "19103755", "url": "https://glygen.org/publication/PubMed/19103755" } ] }, { "annotation": "Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001159577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577" } ] }, { "annotation": "Novel ADA2 Variants in a Romanian Case Series of DADA2.", "evidence": [ { "database": "RefSeq", "id": "NP_001159577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159577" }, { "database": "PubMed", "id": "37783985", "url": "https://glygen.org/publication/PubMed/37783985" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "66.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "55.38", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000276234", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000276234" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75478" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75478" } ], "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", 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"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": "O75478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75478" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75478" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75478" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X2C8-1", "url": "https://www.uniprot.org/uniprot/A0A087X2C8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWZ4", "url": "https://www.uniprot.org/uniprot/A0A0J9YWZ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YWZ4-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YWZ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXZ4", "url": "https://www.uniprot.org/uniprot/A0A0J9YXZ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXZ4-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YXZ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75478", "url": "https://www.uniprot.org/uniprot/O75478", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75478-1", "url": "https://www.uniprot.org/uniprot/O75478-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75478-2", "url": "https://www.uniprot.org/uniprot/O75478-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDRLGPFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIEEFDNYAEWDLRDIDFVEDDSDILHALKMAVVDIYHSRLKERQRRKKIIRDHGLINLRKFQLMERRYPKEVQDLYETMRRFARIVGPVEHDKFIESHALEFELRREIKRLQEYRTAGITNFCSARTYDHLKKTREEERLKRTMLSEVLQYIQDSSACQQWLRRQADIDSGLSPSIPMASNSGRRSAPPLNLTGLPGTEKLNEKEKELCQMVRLVPGAYLEYKSALLNECNKQGGLRLAQARALIKIDVNKTRKIYDFLIREGYITKG", "length": 443, "header": "sp|O75478-1|TAD2A_HUMAN Isoform 1 of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=3 CANONICAL=O75478-1" }, "isoforms": [ { "isoform_ac": "A0A024R0Y4-1", "url": "", "sequence": { "sequence": "MDRLGSFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIEEFDNYAEWDLRDIDFVEDDSDILHALKMAVVDIYHSRLKERQRRKKIIRDHGLINLRKFQLMERRYPKEVQDLYETMRRFARIVGPVEHDKFIESHALEFELRREIKRLQEYRTAGITNFCSARTYDHLKKTREEERLKRTMLSEVLQYIQDSSACQQWLRRQADIDSGLSPSIPMASNSGRRSAPPLNLTGLPGTEKLNEKEKELCQMVRLVPGAYLEYKSALLNECNKQGGLRLAQARALIKIDVNKTRKIYDFLIREGYITKG", "length": 443, "header": "tr|A0A024R0Y4-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "17", "start_pos": 37476979, "end_pos": 37411366, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000612272.4", "url": "https://www.ensembl.org/id/ENST00000612272.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000477709.1", "url": "https://www.ensembl.org/id/ENSP00000477709.1" } ] } }, { "isoform_ac": "A0A087WTV5-1", "url": "", "sequence": { "sequence": "MALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIEEFDNYAEWDLRDIDFVEDDSDILHALKMAVVDIYHSRLKERQRRKKIIRDHGLINLRKFQLMERRYPKEVQDLYETMRRFARIVGPVEHDKFIESHA", "length": 194, "header": "tr|A0A087WTV5-1|A0A087WTV5_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "17", "start_pos": 37465540, "end_pos": 37437786, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615328.4", "url": "https://www.ensembl.org/id/ENST00000615328.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478162.1", "url": "https://www.ensembl.org/id/ENSP00000478162.1" } ] } }, { "isoform_ac": "A0A087WU71-1", "url": "", "sequence": { "sequence": "MDRLGSFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDM", "length": 133, "header": "tr|A0A087WU71-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "17", "start_pos": 37442616, "end_pos": 37411366, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614112.4", "url": "https://www.ensembl.org/id/ENST00000614112.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478418.1", "url": "https://www.ensembl.org/id/ENSP00000478418.1" } ] } }, { "isoform_ac": "A0A087WWR4-1", "url": "", "sequence": { "sequence": "MDRLGSFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIEEFDNYAEWDLRDIDFVEDDSDILHALKMAVVDIYHSRLKERQRRKKIIRDHGLINLRKFQLMERRYPKEVQDLYETMRRFARIVGPVEHDKFIESHACRWFLSLEQYLCVYIYINRRDNGVFYVKFYK", "length": 305, "header": "tr|A0A087WWR4-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "17", "start_pos": 37465633, "end_pos": 37411366, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620367.4", "url": "https://www.ensembl.org/id/ENST00000620367.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480446.1", "url": "https://www.ensembl.org/id/ENSP00000480446.1" } ] } }, { "isoform_ac": "A0A087WYK3-1", "url": "", "sequence": { "sequence": "XTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFH", "length": 84, "header": "tr|A0A087WYK3-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 1679828, "end_pos": 1676903, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632804.1", "url": "https://www.ensembl.org/id/ENST00000632804.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487758.1", "url": "https://www.ensembl.org/id/ENSP00000487758.1" } ] } }, { "isoform_ac": "A0A087WZS1-1", "url": "", "sequence": { "sequence": "MDRLGSFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNW", "length": 95, "header": "tr|A0A087WZS1-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "17", "start_pos": 37437830, "end_pos": 37411366, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614122.4", "url": "https://www.ensembl.org/id/ENST00000614122.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482848.1", "url": "https://www.ensembl.org/id/ENSP00000482848.1" } ] } }, { "isoform_ac": "A0A087X2C8-1", "url": "", "sequence": { "sequence": "MTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFI", "length": 56, "header": "tr|A0A087X2C8-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "17", "start_pos": 37440577, "end_pos": 37427007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621780.1", "url": "https://www.ensembl.org/id/ENST00000621780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000484884.1", "url": "https://www.ensembl.org/id/ENSP00000484884.1" } ] } }, { "isoform_ac": "A0A0J9YWZ4-1", "url": "", "sequence": { "sequence": "MDRLGPFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNW", "length": 95, "header": "tr|A0A0J9YWZ4-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 1676996, "end_pos": 1650518, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000631413.1", "url": "https://www.ensembl.org/id/ENST00000631413.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488180.1", "url": "https://www.ensembl.org/id/ENSP00000488180.1" } ] } }, { "isoform_ac": "A0A0J9YXZ4-1", "url": "", "sequence": { "sequence": "MDRLGPFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDM", "length": 133, "header": "tr|A0A0J9YXZ4-1|TAD2A_HUMAN Computationally mapped isoform of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=1 CANONICAL=O75478-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 1681782, "end_pos": 1650518, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632354.1", "url": "https://www.ensembl.org/id/ENST00000632354.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488616.1", "url": "https://www.ensembl.org/id/ENSP00000488616.1" } ] } }, { "isoform_ac": "O75478-1", "url": "", "sequence": { "sequence": "MDRLGPFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIEEFDNYAEWDLRDIDFVEDDSDILHALKMAVVDIYHSRLKERQRRKKIIRDHGLINLRKFQLMERRYPKEVQDLYETMRRFARIVGPVEHDKFIESHALEFELRREIKRLQEYRTAGITNFCSARTYDHLKKTREEERLKRTMLSEVLQYIQDSSACQQWLRRQADIDSGLSPSIPMASNSGRRSAPPLNLTGLPGTEKLNEKEKELCQMVRLVPGAYLEYKSALLNECNKQGGLRLAQARALIKIDVNKTRKIYDFLIREGYITKG", "length": 443, "header": "sp|O75478-1|TAD2A_HUMAN Isoform 1 of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=3 CANONICAL=O75478-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 1716149, "end_pos": 1650518, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622522.2", "url": "https://www.ensembl.org/id/ENST00000622522.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000481283.1", "url": "https://www.ensembl.org/id/ENSP00000481283.1" } ] } }, { "isoform_ac": "O75478-2", "url": "", "sequence": { "sequence": "MDRLGPFSNDPSDKPPCRGCSSYLMEPYIKCAECGPPPFFLCLQCFTRGFEYKKHQSDHTYEIMTSDFPVLDPSWTAQEEMALLEAVMDCGFGNWQDVANQMCTKTKEECEKHYMKHFINNPLFASTLLNLKQAEEAKTADTAIPFHSTDDPPRPTFDSLLSRDMAGYMPARADFIEEFDNYAEWDLRDIDFVEDDSDILHALKMAVVDIYHSRLKERQRRKKIIRDHGLINLRKFQLMERRYPKEVQDLYETMRRFARIVGPVEHDKFIESHACRWFLSLEQYLCVYIYINRRDNGVFYVKFYK", "length": 305, "header": "sp|O75478-2|TAD2A_HUMAN Isoform 2 of Transcriptional adapter 2-alpha OS=Homo sapiens OX=9606 GN=TADA2A PE=1 SV=3 CANONICAL=O75478-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 1704802, "end_pos": 1650518, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633584.1", "url": "https://www.ensembl.org/id/ENST00000633584.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487973.1", "url": "https://www.ensembl.org/id/ENSP00000487973.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 6, "end_pos": 6, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Pro", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O75478", "url": "https://www.uniprot.org/uniprot/O75478" }, { "database": "iPTMnet", "id": "O75478", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75478" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Pro6" } ], "glycation": [], "keywords": [], "publication": [ { "title": "A new human member of the MYST family of histone acetyl transferases with high sequence similarity to Drosophila MOF.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Neal KC, Pannuti A, Smith ER, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10786633", "url": "https://glygen.org/publication/PubMed/10786633" } ] }, { "title": "ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation.", "journal": "Nature", "date": "2000", "authors": "Kawasaki H, Schiltz L, Chiu R, Itakura K, Taira K, Nakatani Y, Yokoyama KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10821277", "url": "https://glygen.org/publication/PubMed/10821277" } ] }, { "title": "Leukemia proto-oncoprotein MLL is proteolytically processed into 2 fragments with opposite transcriptional properties.", "journal": "Blood", "date": "2002-11-15", "authors": "Yokoyama Akihiko, Kitabayashi Issay, Ayton Paul M, Cleary Michael L, Ohki Misao", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12393701", "url": "https://glygen.org/publication/PubMed/12393701" } ] }, { "title": "Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Hsieh JJ, Ernst P, Erdjument-Bromage H, Tempst P, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12482972", "url": "https://glygen.org/publication/PubMed/12482972" } ] }, { "title": "Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1.", "journal": "Genes & development", "date": "2003", "authors": "Wysocka J, Myers MP, Laherty CD, Eisenman RN, Herr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12670868", "url": "https://glygen.org/publication/PubMed/12670868" } ] }, { "title": "Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression.", "journal": "Cell", "date": "2003", "authors": "Hsieh JJ, Cheng EH, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "14636557", "url": "https://glygen.org/publication/PubMed/14636557" } ] }, { "title": "Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.", "journal": "Molecular cell", "date": "2004", "authors": "Hughes CM, Rozenblatt-Rosen O, Milne TA, Copeland TD, Levine SS, Lee JC, Hayes DN, Shanmugam KS, Bhattacharjee A, Biondi CA, Kay GF, Hayward NK, Hess JL, Meyerson M", "evidence": [ { "database": "Reactome", "id": 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Stegmaier S, Treuner J, Simon-Klingenstein K, Buhlmann P, Niggli FK, Schafer BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "15313887", "url": "https://glygen.org/publication/PubMed/15313887" } ] }, { "title": "A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Smith ER, Cayrou C, Huang R, Lane WS, Cote J, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16227571", "url": "https://glygen.org/publication/PubMed/16227571" } ] }, { "title": "The menin tumor suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis.", "journal": "Cell", 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