{ "uniprot_canonical_ac": "O14896-1", "uniprot_ac": "O14896", "uniprot_id": "IRF6_HUMAN", "mass": { "chemical_mass": 53130.0, "monoisotopic_mass": 53130.0 }, "refseq": { "ac": "NP_001193625", "name": "interferon regulatory factor 6 isoform 2", "summary": "This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, "gene_names": [ { "name": "IRF6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14896", "id": "O14896" }, { "name": "IRF6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625", "id": "NP_001193625" }, { "name": "LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625", "id": "NP_001193625" } ], "protein_names": [ { "name": "Interferon regulatory factor 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14896" }, { "name": "IRF-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14896" }, { "name": "interferon regulatory factor 6 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625", "id": "NP_001193625" } ], "function": [ { "annotation": "A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, { "database": "PubMed", "id": "37107607", "url": "https://glygen.org/publication/PubMed/37107607" } ] }, { "annotation": "A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, { "database": "PubMed", "id": "36901693", "url": "https://glygen.org/publication/PubMed/36901693" } ] }, { "annotation": "A Variant in the IRF6 Promoter Associated with the Risk for Orofacial Clefting.", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, { "database": "PubMed", "id": "37161310", "url": "https://glygen.org/publication/PubMed/37161310" } ] }, { "annotation": "An identification of three missense mutatins and one nonsense mutation in IRF6", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, { "database": "PubMed", "id": "12920575", "url": "https://glygen.org/publication/PubMed/12920575" } ] }, { "annotation": "Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, { "database": "PubMed", "id": "38002937", "url": "https://glygen.org/publication/PubMed/38002937" } ] }, { "annotation": "Includes the study of a disease-related upstream ORF in this gene, and shows that it functions to reduce protein levels by ~96%.", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, { "database": "PubMed", "id": "19372376", "url": "https://glygen.org/publication/PubMed/19372376" } ] }, { "annotation": "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" }, { "database": "PubMed", "id": "12219090", "url": "https://glygen.org/publication/PubMed/12219090" } ] }, { "annotation": "Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14896", "url": "https://www.uniprot.org/uniprot/O14896#function" } ] }, { "annotation": "This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625" } ] } ], "disease": [ { "disease_id": "DOID:0060055", "recommended_name": { "id": "DOID:0060055", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060055", "name": "popliteal pterygium syndrome", "description": "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1." }, "synonyms": [ { "id": "DOID:0060055", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060055", "name": "facio-genito-popliteal syndrome", "description": "" }, { "id": "DOID:0060055", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060055", "name": "popliteal web syndrome", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "autosomal dominant popliteal pterygium syndrome", "description": "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "facio-genito-popliteal syndrome", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "popliteal pterygium syndrome 1", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "popliteal pterygium syndrome, autosomal dominant", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "popliteal web syndrome", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "PPS", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "faciogenitopopliteal syndrome", "description": "" }, { "id": "MONDO:0007334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007334", "name": "popliteal pterygium syndrome", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "Bartsocas-Papas syndrome 1", "description": "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "Bartsocas Papas syndrome", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "Bartsocas-Papas syndrome", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "autosomal recessive popliteal pterygium syndrome", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "lethal popliteal pterygium syndrome", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "popliteal pterygium syndrome, Bartsocas-Papas type 1", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "popliteal pterygium syndrome, lethal type", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "BPS", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "multiple pterygium syndrome, Aslan type", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "popliteal pterygium syndrome lethal type", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "popliteal pterygium syndrome, Bartsocas-Papas type", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "pterygium popliteal lethal type", "description": "" }, { "id": "MONDO:0009901", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009901", "name": "pterygium, popliteal, lethal type", "description": "" }, { "id": "MIM:119500", "resource": "MIM", "url": "https://www.omim.org/entry/119500", "name": "Popliteal pterygium syndrome", "description": "Popliteal pterygium syndrome" }, { "id": "MIM:263650", "resource": "MIM", "url": "https://www.omim.org/entry/263650", "name": "Bartsocas-Papas syndrome", "description": "Bartsocas-Papas syndrome" } ], "evidence": [ { "id": "119500", "database": "MIM", "url": "https://www.omim.org/entry/119500" } ] }, { "disease_id": "DOID:0060239", "recommended_name": { "id": "DOID:0060239", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060239", "name": "Van der Woude syndrome", "description": "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone." }, "synonyms": [ { "id": "MONDO:0011712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011712", "name": "van der Woude syndrome 2", "description": "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." }, { "id": "MONDO:0011712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011712", "name": "GRHL3 van der Woude syndrome", "description": "" }, { "id": "MONDO:0011712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011712", "name": "Van Der Woude syndrome type 2", "description": "" }, { "id": "MONDO:0011712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011712", "name": "van der Woude syndrome 2", "description": "" }, { "id": "MONDO:0011712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011712", "name": "van der Woude syndrome caused by mutation in GRHL3", "description": "" }, { "id": "MONDO:0011712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011712", "name": "VAN DER Woude syndrome 2", "description": "" }, { "id": "MONDO:0011712", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011712", "name": "VWS2", "description": "" }, { "id": "MONDO:0019508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019508", "name": "van der Woude syndrome", "description": "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." }, { "id": "MONDO:0019508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019508", "name": "VWS", "description": "" }, { "id": "MONDO:0019508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019508", "name": "cleft lip/palate with mucous cysts of lower lip", "description": "" }, { "id": "MONDO:0019508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019508", "name": "lip-pit syndrome", "description": "" }, { "id": "MONDO:0019508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019508", "name": "LPS", "description": "" }, { "id": "MONDO:0019508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019508", "name": "cleft lip and/or palate with mucous cysts of lower lip", "description": "" }, { "id": "MONDO:0019508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019508", "name": "lip pit syndrome", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "van der Woude syndrome 1", "description": "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene." }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "IRF6 van der Woude syndrome", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "Van Der Woude syndrome type 1", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "van der Woude syndrome 1", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "van der Woude syndrome caused by mutation in IRF6", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "VAN DER Woude syndrome 1", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "VWS1", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "Vdws", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "cleft lip and/or palate with mucous cysts of Lower lip", "description": "" }, { "id": "MONDO:0007333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007333", "name": "lip-pit syndrome", "description": "" }, { "id": "MIM:606713", "resource": "MIM", "url": "https://www.omim.org/entry/606713", "name": "Van der Woude syndrome 2", "description": "Van der Woude syndrome 2" }, { "id": "MIM:119300", "resource": "MIM", "url": "https://www.omim.org/entry/119300", "name": "Van der Woude syndrome 1", "description": "Van der Woude syndrome 1" } ], "evidence": [ { "id": "119300", "database": "MIM", "url": "https://www.omim.org/entry/119300" } ] }, { "disease_id": "DOID:0080593", "recommended_name": { "id": "DOID:0080593", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080593", "name": "orofacial cleft 6", "description": "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32." }, "synonyms": [ { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "orofacial cleft 6, susceptibility to", "description": "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." }, { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "IRF6 orofacial cleft", "description": "" }, { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "orofacial cleft 6", "description": "" }, { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "orofacial cleft 6, susceptibility to", "description": "" }, { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "orofacial cleft caused by mutation in IRF6", "description": "" }, { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "OFC6", "description": "" }, { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "cleft lip with or without cleft palate, nonsyndromic, 6", "description": "" }, { "id": "MONDO:0012141", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012141", "name": "susceptibility to orofacial cleft 6", "description": "" }, { "id": "MIM:608864", "resource": "MIM", "url": "https://www.omim.org/entry/608864", "name": "Non-syndromic orofacial cleft 6", "description": "Non-syndromic orofacial cleft 6" } ], "evidence": [ { "id": "608864", "database": "MIM", "url": "https://www.omim.org/entry/608864" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "68.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117595", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117595" } ] } ], "expression_disease": [ { 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"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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14896" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"tr|A0A2R8YHF3-1|A0A2R8YHF3_HUMAN Computationally mapped isoform of Interferon regulatory factor 6 OS=Homo sapiens OX=9606 GN=IRF6 PE=1 SV=1 CANONICAL=O14896-1" }, "locus": { "chromosome": "1", "start_pos": 209801413, "end_pos": 209793155, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643798.1", "url": "https://www.ensembl.org/id/ENST00000643798.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496669.1", "url": "https://www.ensembl.org/id/ENSP00000496669.1" } ] } }, { "isoform_ac": "A0A8Q3WL17-1", "url": "", "sequence": { "sequence": "MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHATRHSPQQEEENTIFKAWAVETGKYQEGVDDPDPAKWKAQLRCALNKSREFNLMYDGTKEVPMNPVKIYQVCDIPQPQGSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQDTFPFLNINGSPMAPASVGNCSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPRRITMAVAFLNAG", "length": 235, "header": "tr|A0A8Q3WL17-1|IRF6_HUMAN Computationally mapped isoform of Interferon regulatory factor 6 OS=Homo sapiens OX=9606 GN=IRF6 PE=1 SV=1 CANONICAL=O14896-1" }, "locus": { "chromosome": "1", "start_pos": 209801413, "end_pos": 209790985, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696134.1", "url": "https://www.ensembl.org/id/ENST00000696134.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512427.1", "url": "https://www.ensembl.org/id/ENSP00000512427.1" } ] } }, { "isoform_ac": "B1AJU4-1", "url": "", "sequence": { "sequence": "MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHATRHSPQQEEENTIFKAWAVETGKYQEGVDDPDPAKWKAQLRCALNKSREFNLMYDGTKEVPMNPVKIYQVCDIPQPQGSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQDTFPFLNINGSPMAPASVGNCSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPMTDLDIKFQYRGKEYGQTMTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKF", "length": 276, "header": "tr|B1AJU4-1|IRF6_HUMAN Computationally mapped isoform of Interferon regulatory factor 6 OS=Homo sapiens OX=9606 GN=IRF6 PE=1 SV=1 CANONICAL=O14896-1" }, "locus": { "chromosome": "1", "start_pos": 209801413, "end_pos": 209790727, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456314.1", "url": "https://www.ensembl.org/id/ENST00000456314.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000403855.1", "url": "https://www.ensembl.org/id/ENSP00000403855.1" } ] } }, { "isoform_ac": "O14896-1", "url": "", "sequence": { "sequence": "MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHATRHSPQQEEENTIFKAWAVETGKYQEGVDDPDPAKWKAQLRCALNKSREFNLMYDGTKEVPMNPVKIYQVCDIPQPQGSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQDTFPFLNINGSPMAPASVGNCSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPMTDLDIKFQYRGKEYGQTMTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKFPGPEHITNEKQKLFTSKLLDVMDRGLILEVSGHAIYAIRLCQCKVYWSGPCAPSLVAPNLIERQKKVKLFCLETFLSDLIAHQKGQIEKQPPFEIYLCFGEEWPDGKPLERKLILVQVIPVVARMIYEMFSGDFTRSFDSGSVRLQISTPDIKDNIVAQLKQLYRILQTQESWQPMQPTPSMQLPPALPPQ", "length": 467, "header": "sp|O14896-1|IRF6_HUMAN Isoform 1 of Interferon regulatory factor 6 OS=Homo sapiens OX=9606 GN=IRF6 PE=1 SV=1 CANONICAL=O14896-1" }, "locus": { "chromosome": "1", "start_pos": 209801413, "end_pos": 209788423, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367021.8", "url": "https://www.ensembl.org/id/ENST00000367021.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000355988.3", "url": "https://www.ensembl.org/id/ENSP00000355988.3" } ] } }, { "isoform_ac": "O14896-2", "url": "", "sequence": { "sequence": "MYDGTKEVPMNPVKIYQVCDIPQPQGSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQDTFPFLNINGSPMAPASVGNCSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPMTDLDIKFQYRGKEYGQTMTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKFPGPEHITNEKQKLFTSKLLDVMDRGLILEVSGHAIYAIRLCQCKVYWSGPCAPSLVAPNLIERQKKVKLFCLETFLSDLIAHQKGQIEKQPPFEIYLCFGEEWPDGKPLERKLILVQVIPVVARMIYEMFSGDFTRSFDSGSVRLQISTPDIKDNIVAQLKQLYRILQTQESWQPMQPTPSMQLPPALPPQ", "length": 372, "header": "sp|O14896-2|IRF6_HUMAN Isoform 2 of Interferon regulatory factor 6 OS=Homo sapiens OX=9606 GN=IRF6 PE=1 SV=1 CANONICAL=O14896-1" }, "locus": { "chromosome": "1", "start_pos": 209796441, "end_pos": 209788423, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542854.5", "url": "https://www.ensembl.org/id/ENST00000542854.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440532.1", "url": "https://www.ensembl.org/id/ENSP00000440532.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Inhibition of transforming growth factor-beta/SMAD signalling by the interferon-gamma/STAT pathway.", "journal": "Nature", "date": "1999", "authors": "Ulloa L, Doody J, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "10067896", "url": "https://glygen.org/publication/PubMed/10067896" } ] }, { "title": "Determination of residues involved in ligand binding and signal transmission in the human IFN-alpha receptor 2.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Chuntharapai A, Gibbs V, Lu J, Ow A, Marsters S, Ashkenazi A, De Vos A, Jin Kim K", "evidence": [ { "database": "Reactome", "id": "R-HSA-909733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-909733" } ], "reference": [ { "type": "PubMed", "id": "10395669", "url": "https://glygen.org/publication/PubMed/10395669" } ] }, { "title": "Catalytically active TYK2 is essential for interferon-beta-mediated phosphorylation of STAT3 and interferon-alpha receptor-1 (IFNAR-1) but not for activation of phosphoinositol 3-kinase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Rani MR, Leaman DW, Han Y, Leung S, Croze E, Fish EN, Wolfman A, Ransohoff RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-909733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-909733" } ], "reference": [ { "type": "PubMed", "id": "10542297", "url": "https://glygen.org/publication/PubMed/10542297" } ] }, { "title": "Regulation of STAT1 nuclear export by Jak1.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Mowen K, David M", "evidence": [ { "database": "Reactome", "id": "R-HSA-909733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-909733" } ], "reference": [ { "type": "PubMed", "id": "10982844", "url": "https://glygen.org/publication/PubMed/10982844" } ] }, { "title": "Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "Thiel DJ, le Du MH, Walter RL, D'Arcy A, Chene C, Fountoulakis M, Garotta G, Winkler FK, Ealick SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "10986460", "url": "https://glygen.org/publication/PubMed/10986460" } ] }, { "title": "Gene structure and function of the 2'-5'-oligoadenylate synthetase family.", "journal": "Cellular and molecular life sciences 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