{ "uniprot_canonical_ac": "O14593-1", "uniprot_ac": "O14593", "uniprot_id": "RFXK_HUMAN", "mass": { "chemical_mass": 28102.0, "monoisotopic_mass": 28102.0 }, "refseq": { "ac": "NP_001265656", "name": "DNA-binding protein RFXANK isoform c", "summary": "Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" }, "gene_names": [ { "name": "RFXANK", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14593", "id": "O14593" }, { "name": "ANKRA1; BLS; F14150_1; RFX-B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656", "id": "NP_001265656" }, { "name": "ANKRA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14593", "id": "O14593" }, { "name": "RFXANK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656", "id": "NP_001265656" }, { "name": "RFXB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14593", "id": "O14593" }, { "name": "hCG_38560", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14593", "id": "O14593" } ], "protein_names": [ { "name": "DNA-binding protein RFXANK", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14593" }, { "name": "Ankyrin repeat family A protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14593" }, { "name": "DNA-binding protein RFXANK isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656", "id": "NP_001265656" }, { "name": "RFX-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14593" }, { "name": "Regulatory factor X subunit B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14593" }, { "name": "Regulatory factor X-associated ankyrin-containing protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14593" }, { "name": "ankyrin repeat-containing regulatory factor X-associated protein; regulatory factor X subunit B; RFX-Bdelta4; DNA-binding protein RFXANK; ankyrin repeat family A protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656", "id": "NP_001265656" } ], "function": [ { "annotation": "Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593#function" }, { "database": "PubMed", "id": "9806546", "url": "https://glygen.org/publication/PubMed/9806546" }, { "database": "UniProtKB", "id": "Q9Z205", "url": "https://www.uniprot.org/uniprot/Q9Z205#function" }, { "database": "PubMed", "id": "10725724", "url": "https://glygen.org/publication/PubMed/10725724" }, { "database": "PubMed", "id": "10072068", "url": "https://glygen.org/publication/PubMed/10072068" } ] }, { "annotation": "Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" }, { "database": "PubMed", "id": "37584719", "url": "https://glygen.org/publication/PubMed/37584719" } ] }, { "annotation": "Isoform 2 is not involved in the positive regulation of MHC class II genes.", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593#function" }, { "database": "PubMed", "id": "10072068", "url": "https://glygen.org/publication/PubMed/10072068" } ] }, { "annotation": "Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" } ] }, { "annotation": "Mutation results in Bare Lymphocyte Syndrome, Type 2 in a child of Mexican descent", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" }, { "database": "PubMed", "id": "26634365", "url": "https://glygen.org/publication/PubMed/26634365" } ] }, { "annotation": "Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK.", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" }, { "database": "PubMed", "id": "31864703", "url": "https://glygen.org/publication/PubMed/31864703" } ] }, { "annotation": "These data identify a novel caspase-2-interacting factor, RFXANK, and indicate a potential non-apoptotic role for the enzyme in the control of MHC class II gene regulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" }, { "database": "PubMed", "id": "29362422", "url": "https://glygen.org/publication/PubMed/29362422" } ] }, { "annotation": "This study reports an 8 month-old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene and normal CD4+ T cell counts, diagnosed by whole exome sequencing and negative HLA-DR proteins on peripheral blood mononuclear cell in flow cytometry Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" }, { "database": "PubMed", "id": "30644704", "url": "https://glygen.org/publication/PubMed/30644704" } ] } ], "disease": [ { "disease_id": "DOID:5812", "recommended_name": { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "MHC class II deficiency", "description": "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes." }, "synonyms": [ { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "BLSII", "description": "" }, { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "SCID due to absent class II HLA antigens", "description": "" }, { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "bare lymphocyte syndrome type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "MHC class II deficiency", "description": "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "HLA class 2-negative SCID", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "HLA class 2-negative severe combined immunodeficiency", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "MHC class II deficiency, complementation group B", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "MHC class II expression deficiency", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID due to absent class II HLA antigens", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "immunodeficiency by defective expression of HLA class type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "major histocompatibility complex class II expression deficiency", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group B, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group C, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group D, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group E, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS, type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLSII", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group A", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group B", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group C", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group D", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group E", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bls, type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA Class 2-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA Class II-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "bare lymphocyte syndrome type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "immunodeficiency by defective expression of HLA class 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "severe combined immunodeficiency, HLA Class II-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "severe combined immunodeficiency, HLA class ii-negative", "description": "" }, { "id": "MIM:209920", "resource": "MIM", "url": "https://www.omim.org/entry/209920", "name": "Bare lymphocyte syndrome 2", "description": "Bare lymphocyte syndrome 2" } ], "evidence": [ { "id": "209920", "database": "MIM", "url": "https://www.omim.org/entry/209920" } ] } ], "snv": [ { "evidence": [ { "id": "O14593", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14593" } ], "glycoeffect": [], "start_pos": 251, "end_pos": 251, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "E", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "19201687", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q251", "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" } ] }, { "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", 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}, { "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14593", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14593" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14593", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14593" } ], "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": 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"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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14593", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14593" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"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": "O14593", "url": "https://www.uniprot.org/uniprot/O14593" } ], "common_name": "Human" } ], "gene": [ { "name": "RFXANK", "url": "https://www.uniprot.org/uniprot/O14593", "locus": { "chromosome": "19", "start_pos": 14671, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_102", "url": "https://www.ensembl.org/id/LRG_102" } ] } } ], "crossref": [ { "id": "ENSG00000064490", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064490", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O14593", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14593", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "RFXANK", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFXANK", "database": "GeneCards", "categories": [ "Gene Annotation", 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"categories": [ "Protein Classification" ] }, { "id": "3UXG", "url": "https://www.rcsb.org/structure/3UXG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3V30", "url": "https://www.rcsb.org/structure/3V30", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6MEW", "url": "https://www.rcsb.org/structure/6MEW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00023", "url": "http://pfam.xfam.org/family/PF00023", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12796", "url": "http://pfam.xfam.org/family/PF12796", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13637", "url": "http://pfam.xfam.org/family/PF13637", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14593", "url": "https://pharos.nih.gov/targets/O14593", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14593", "url": "http://purl.obolibrary.org/obo/PR_O14593", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A024R7P0", "url": "https://www.uniprot.org/uniprot/A0A024R7P0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A024R7P0-1", "url": "https://www.uniprot.org/uniprot/A0A024R7P0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GY33", "url": "https://www.uniprot.org/uniprot/F5GY33", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GY33-1", "url": "https://www.uniprot.org/uniprot/F5GY33-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H7D2", "url": "https://www.uniprot.org/uniprot/F5H7D2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H7D2-1", "url": "https://www.uniprot.org/uniprot/F5H7D2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFU5", "url": "https://www.uniprot.org/uniprot/H0YFU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFU5-1", "url": "https://www.uniprot.org/uniprot/H0YFU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFZ0", "url": "https://www.uniprot.org/uniprot/H0YFZ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFZ0-1", "url": "https://www.uniprot.org/uniprot/H0YFZ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGQ6", "url": "https://www.uniprot.org/uniprot/H0YGQ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGQ6-1", "url": "https://www.uniprot.org/uniprot/H0YGQ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENE6", "url": "https://www.uniprot.org/uniprot/K7ENE6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENE6-1", "url": "https://www.uniprot.org/uniprot/K7ENE6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14593-1", "url": "https://www.uniprot.org/uniprot/O14593-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14593-2", "url": "https://www.uniprot.org/uniprot/O14593-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14593-3", "url": "https://www.uniprot.org/uniprot/O14593-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE", "length": 260, "header": "sp|O14593-1|RFXK_HUMAN Isoform 1 of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=2 CANONICAL=O14593-1" }, "isoforms": [ { "isoform_ac": "A0A024R7P0-1", "url": "", "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQGSSLKHSTTLTNRQRGNEVSALPATLDCDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE", "length": 237, "header": "tr|A0A024R7P0-1|RFXK_HUMAN Computationally mapped isoform of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=1 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19201716, "end_pos": 19193947, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392324.8", "url": "https://www.ensembl.org/id/ENST00000392324.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000376138.3", "url": "https://www.ensembl.org/id/ENSP00000376138.3" } ] } }, { "isoform_ac": "F5GY33-1", "url": "", "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVSALPATLDCDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALL", "length": 188, "header": "tr|F5GY33-1|F5GY33_HUMAN Computationally mapped isoform of Regulatory factor X associated ankyrin containing protein OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=2 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19198722, "end_pos": 19193947, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540981.5", "url": "https://www.ensembl.org/id/ENST00000540981.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440325.2", "url": "https://www.ensembl.org/id/ENSP00000440325.2" } ] } }, { "isoform_ac": "F5H7D2-1", "url": "", "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVS", "length": 83, "header": "tr|F5H7D2-1|F5H7D2_HUMAN Computationally mapped isoform of Regulatory factor X associated ankyrin containing protein OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=2 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19197024, "end_pos": 19193947, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421262.7", "url": "https://www.ensembl.org/id/ENST00000421262.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000393159.3", "url": "https://www.ensembl.org/id/ENSP00000393159.3" } ] } }, { "isoform_ac": "H0YFU5-1", "url": "", "sequence": { "sequence": "PEALTSPPKPTLATPRWTLPWPWDTGKMEFRSCCPGWSAMA", "length": 41, "header": "tr|H0YFU5-1|RFXK_HUMAN Computationally mapped isoform of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=2 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19200860, "end_pos": 19199154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536253.1", "url": "https://www.ensembl.org/id/ENST00000536253.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440321.2", "url": "https://www.ensembl.org/id/ENSP00000440321.2" } ] } }, { "isoform_ac": "H0YFZ0-1", "url": "", "sequence": { "sequence": "PEALTSPPKPTLATPRWTLPWPWDTGKVIENHILKLFQSNLVPADPE", "length": 47, "header": "tr|H0YFZ0-1|RFXK_HUMAN Computationally mapped isoform of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=1 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19201716, "end_pos": 19199154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544923.5", "url": "https://www.ensembl.org/id/ENST00000544923.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441042.1", "url": "https://www.ensembl.org/id/ENSP00000441042.1" } ] } }, { "isoform_ac": "H0YGQ6-1", "url": "", "sequence": { "sequence": "DTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVSALPATLDCDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLETLQPRSSVETKIAEPEALTSPPKPTLAT", "length": 182, "header": "tr|H0YGQ6-1|RFXK_HUMAN Computationally mapped isoform of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=1 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19199195, "end_pos": 19194052, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535017.1", "url": "https://www.ensembl.org/id/ENST00000535017.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000444280.1", "url": "https://www.ensembl.org/id/ENSP00000444280.1" } ] } }, { "isoform_ac": "K7ENE6-1", "url": "", "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKPDERGFTPLIWASAFGEIETVRFLLEW", "length": 145, "header": "tr|K7ENE6-1|K7ENE6_HUMAN Computationally mapped isoform of Regulatory factor X associated ankyrin containing protein OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=1 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19197621, "end_pos": 19193947, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593273.5", "url": "https://www.ensembl.org/id/ENST00000593273.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466913.1", "url": "https://www.ensembl.org/id/ENSP00000466913.1" } ] } }, { "isoform_ac": "O14593-1", "url": "", "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE", "length": 260, "header": "sp|O14593-1|RFXK_HUMAN Isoform 1 of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=2 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19201716, "end_pos": 19193947, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407360.7", "url": "https://www.ensembl.org/id/ENST00000407360.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000384572.3", "url": "https://www.ensembl.org/id/ENSP00000384572.3" } ] } }, { "isoform_ac": "O14593-2", "url": "", "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQGSSLKHSTTLTNRQRGNEVSALPATLDCDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKEREVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE", "length": 223, "header": "sp|O14593-2|RFXK_HUMAN Isoform 2 of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=2 CANONICAL=O14593-1" }, "locus": {} }, { "isoform_ac": "O14593-3", "url": "", "sequence": { "sequence": "MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHSTTLTNRQRGNEVSALPATLDCDNLVNKPDERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE", "length": 238, "header": "sp|O14593-3|RFXK_HUMAN Isoform 3 of DNA-binding protein RFXANK OS=Homo sapiens OX=9606 GN=RFXANK PE=1 SV=2 CANONICAL=O14593-1" }, "locus": { "chromosome": "19", "start_pos": 19201716, "end_pos": 19193947, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456252.7", "url": "https://www.ensembl.org/id/ENST00000456252.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000409138.2", "url": "https://www.ensembl.org/id/ENSP00000409138.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.", "journal": "Immunity", "date": "1999-02", "authors": "Nagarajan U M, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss J M", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593" } ], "reference": [ { "type": "PubMed", "id": "10072068", "url": "https://glygen.org/publication/PubMed/10072068" } ] }, { "title": "Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593" } ], "reference": [ { "type": "PubMed", "id": "10725724", "url": "https://glygen.org/publication/PubMed/10725724" } ] }, { "title": "Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.", "journal": "J. Mol. Biol.", "date": "2010", "authors": "Laird KM, Briggs LL, Boss JM, Summers MF, Garvie CW", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593" } ], "reference": [ { "type": "PubMed", "id": "20732328", "url": "https://glygen.org/publication/PubMed/20732328" } ] }, { "title": "Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.", "journal": "Science signaling", "date": "2012", "authors": "Xu C, Jin J, Bian C, Lam R, Tian R, Weist R, You L, Nie J, Bochkarev A, Tempel W, Tan CS, Wasney GA, Vedadi M, Gish GD, Arrowsmith CH, Pawson T, Yang XJ, Min J", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593" } ], "reference": [ { "type": "PubMed", "id": "22649097", "url": "https://glygen.org/publication/PubMed/22649097" } ] }, { "title": "Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8.", "journal": "Structure", "date": "2015", "authors": "Nie J, Xu C, Jin J, Aka JA, Tempel W, Nguyen V, You L, Weist R, Min J, Pawson T, Yang XJ", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593" } ], "reference": [ { "type": "PubMed", "id": "25752541", "url": "https://glygen.org/publication/PubMed/25752541" } ] }, { "title": "Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.", "journal": "Journal of clinical immunology", "date": "2016", "authors": "Clarridge K, Leitenberg D, Loechelt B, Picard C, Keller M", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" } ], "reference": [ { "type": "PubMed", "id": "26634365", "url": "https://glygen.org/publication/PubMed/26634365" } ] }, { "title": "A caspase-2-RFXANK interaction and its implication for MHC class II expression.", "journal": "Cell death & disease", "date": "2018", "authors": "Forsberg J, Li X, Akpinar B, Salvatori R, Ott M, Zhivotovsky B, Olsson M", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" } ], "reference": [ { "type": "PubMed", "id": "29362422", "url": "https://glygen.org/publication/PubMed/29362422" } ] }, { "title": "MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report.", "journal": "Iranian journal of allergy, asthma, and immunology", "date": "2018", "authors": "Abolnezhadian F, Saeedi-Boroujeni A, Iranparast S", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" } ], "reference": [ { "type": "PubMed", "id": "30644704", "url": "https://glygen.org/publication/PubMed/30644704" } ] }, { "title": "Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK.", "journal": "Biochemical and biophysical research communications", "date": "2020", "authors": "Gao J, Xu C", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" } ], "reference": [ { "type": "PubMed", "id": "31864703", "url": "https://glygen.org/publication/PubMed/31864703" } ] }, { "title": "Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.", "journal": "Journal of clinical immunology", "date": "2023-08-16", "authors": "Mousavi Khorshidi Mohadese Sadat, Seeleuthner Yoann, Chavoshzadeh Zahra, Behfar Maryam, Hamidieh Amir Ali, Alimadadi Hosein, Sherkat Roya, Momen Tooba, Behniafard Nasrin, Eskandarzadeh Shabnam, Mansouri Mahboubeh, Behnam Mahdiyeh, Mahdavi Mohadese, Heydarazad Zadeh Maryam, Shokri Mehdi, Alizadeh Fatemeh, Movahedi Mahshid, Momenilandi Mana, Keramatipour Mohammad, Casanova Jean-Laurent, Cobat Aur\u00e9lie, Abel Laurent, Shahrooei Mohammad, Parvaneh Nima", "evidence": [ { "database": "RefSeq", "id": "NP_001265656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265656" } ], "reference": [ { "type": "PubMed", "id": "37584719", "url": "https://glygen.org/publication/PubMed/37584719" } ] }, { "title": "A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.", "journal": "Nature genetics", "date": "1998", "authors": "Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W", "evidence": [ { "database": "UniProtKB", "id": "O14593", "url": "https://www.uniprot.org/uniprot/O14593" } ], "reference": [ { "type": "PubMed", "id": "9806546", "url": "https://glygen.org/publication/PubMed/9806546" } ] } ], "pathway": [ { "id": "hsa:8625", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8625", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6A1G6-1", "protein_name": "Regulatory factor X-associated 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"cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 251 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": 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