{ "uniprot_canonical_ac": "O95475-1", "uniprot_ac": "O95475", "uniprot_id": "SIX6_HUMAN", "mass": { "chemical_mass": 27687.0, "monoisotopic_mass": 27687.0 }, "refseq": { "ac": "NP_031400", "name": "homeobox protein SIX6", "summary": "The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" }, "gene_names": [ { "name": "SIX6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95475", "id": "O95475" }, { "name": "MCOPCT2; ODRMD; OPTX2; Six9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400", "id": "NP_031400" }, { "name": "OPTX2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95475", "id": "O95475" }, { "name": "SIX6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400", "id": "NP_031400" }, { "name": "SIX9", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95475", "id": "O95475" } ], "protein_names": [ { "name": "Homeobox protein SIX6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95475" }, { "name": "Homeodomain protein OPTX2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95475" }, { "name": "Optic homeobox 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95475" }, { "name": "Sine oculis homeobox homolog 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95475" }, { "name": "homeobox protein SIX6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400", "id": "NP_031400" }, { "name": "optic homeobox 2; sine oculis homeobox protein 6; homeodomain protein OPTX2; sine oculis homeobox homolog 6; sine oculis homeobox-like protein 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400", "id": "NP_031400" } ], "function": [ { "annotation": "Association of Polymorphisms at the SIX1/SIX6 Locus With Normal Tension Glaucoma in a Korean Population.", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" }, { "database": "PubMed", "id": "35658088", "url": "https://glygen.org/publication/PubMed/35658088" } ] }, { "annotation": "Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children.", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" }, { "database": "PubMed", "id": "35017159", "url": "https://glygen.org/publication/PubMed/35017159" } ] }, { "annotation": "Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" }, { "database": "PubMed", "id": "36596020", "url": "https://glygen.org/publication/PubMed/36596020" } ] }, { "annotation": "May be involved in eye development.", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475#function" } ] }, { "annotation": "Mutually exclusive epigenetic modification on SIX6 with hypermethylation for precancerous stage and metastasis emergence tracing. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" }, { "database": "PubMed", "id": "35790732", "url": "https://glygen.org/publication/PubMed/35790732" } ] }, { "annotation": "Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" }, { "database": "PubMed", "id": "35693420", "url": "https://glygen.org/publication/PubMed/35693420" } ] }, { "annotation": "The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" } ] } ], "disease": [ { "disease_id": "DOID:0080635", "recommended_name": { "id": "DOID:0080635", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080635", "name": "optic disc anomalies with retinal and/or macular dystrophy", "description": "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23." }, "synonyms": [ { "id": "MONDO:0008927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008927", "name": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "description": "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity." }, { "id": "MONDO:0008927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008927", "name": "ODRMD", "description": "" }, { "id": "MONDO:0008927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008927", "name": "optic DISC anomalies with retinal and/or macular dystrophy", "description": "" }, { "id": "MIM:212550", "resource": "MIM", "url": "https://www.omim.org/entry/212550", "name": "Optic disk anomalies with retinal and/or macular dystrophy", "description": "Optic disk anomalies with retinal and/or macular dystrophy" } ], "evidence": [ { "id": "212550", "database": "MIM", "url": "https://www.omim.org/entry/212550" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "39.9", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "26.53", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "25.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "24.08", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "40.73", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "27.32", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000184302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184302" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95475", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95475" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95475", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95475" } ], "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": "" }, { 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"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", 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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60511249, "end_pos": 60509399, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327720.6", "url": "https://www.ensembl.org/id/ENST00000327720.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000328596.5", "url": "https://www.ensembl.org/id/ENSP00000328596.5" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 212, "end_pos": 212, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O95475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95475" } ], "site_lbl": "Thr212" }, { "start_pos": 221, "end_pos": 221, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O95475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95475" } ], "site_lbl": "Ser221" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O95475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95475" } ], "site_lbl": "Ser225" }, { "start_pos": 227, "end_pos": 227, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O95475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95475" } ], "site_lbl": "Ser227" }, { "start_pos": 228, "end_pos": 228, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O95475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95475" } ], "site_lbl": "Ser228" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Six9 (Optx2), a new member of the Six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development.", "journal": "Mech. Dev.", "date": "1999", "authors": "Lopez-Rios J, Gallardo ME, Rodriguez de Cordoba S, Bovolenta P", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" } ], "reference": [ { "type": "PubMed", "id": "10381575", "url": "https://glygen.org/publication/PubMed/10381575" } ] }, { "title": "Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.", "journal": "Genomics", "date": "1999", "authors": "Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodriguez de Cordoba S", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" } ], "reference": [ { "type": "PubMed", "id": "10512683", "url": "https://glygen.org/publication/PubMed/10512683" } ] }, { "title": "Human-specific amino acid changes found in 103 protein-coding genes.", "journal": "Mol. Biol. Evol.", "date": "2004", "authors": "Kitano Takashi, Liu Yu-Hua, Ueda Shintaroh, Saitou Naruya", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" } ], "reference": [ { "type": "PubMed", "id": "15014171", "url": "https://glygen.org/publication/PubMed/15014171" } ] }, { "title": "Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Gallardo ME, Rodriguez De Cordoba S, Schneider AS, Dwyer MA, Ayuso C, Bovolenta P", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" } ], "reference": [ { "type": "PubMed", "id": "15266624", "url": "https://glygen.org/publication/PubMed/15266624" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" }, { "database": "iPTMnet", "id": "O95475", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95475" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Homozygous truncation of SIX6 causes complex microphthalmia in humans.", "journal": "Clin. Genet.", "date": "2013", "authors": "Aldahmesh M A, Khan A O, Hijazi H, Alkuraya F S", "evidence": [ { "database": "UniProtKB", "id": "O95475", "url": "https://www.uniprot.org/uniprot/O95475" } ], "reference": [ { "type": "PubMed", "id": "23167593", "url": "https://glygen.org/publication/PubMed/23167593" } ] }, { "title": "Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children.", "journal": "The British journal of ophthalmology", "date": "2023-08", "authors": "Lu Shi Yao, Zhang Xiu Juan, Wang Yu Meng, Yuan Nan, Kam Ka Wai, Chan Poemen P, Tam Pancy Os, Yip Wilson Wk, Young Alvin L, Tham Clement C, Pang Chi Pui, Yam Jason C, Chen Li Jia", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" } ], "reference": [ { "type": "PubMed", "id": "35017159", "url": "https://glygen.org/publication/PubMed/35017159" } ] }, { "title": "Association of Polymorphisms at the SIX1/SIX6 Locus With Normal Tension Glaucoma in a Korean Population.", "journal": "Journal of glaucoma", "date": "2022", "authors": "Shin HY, Lee YC, Lee MY", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" } ], "reference": [ { "type": "PubMed", "id": "35658088", "url": "https://glygen.org/publication/PubMed/35658088" } ] }, { "title": "Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.", "journal": "Molecular vision", "date": "2022", "authors": "Panagiotou ES, Fernandez-Fuentes N, Farraj LA, McKibbin M, Elcioglu NH, Jafri H, Cerman E, Parry DA, Logan CV, Johnson CA, Inglehearn CF, Toomes C, Ali M", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" } ], "reference": [ { "type": "PubMed", "id": "35693420", "url": "https://glygen.org/publication/PubMed/35693420" } ] }, { "title": "Mutually exclusive epigenetic modification on SIX6 with hypermethylation for precancerous stage and metastasis emergence tracing.", "journal": "Signal transduction and targeted therapy", "date": "2022", "authors": "Dong S, Yang Z, Xu P, Zheng W, Zhang B, Fu F, Mao Z, Yuan J, Chen H, Yu W", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" } ], "reference": [ { "type": "PubMed", "id": "35790732", "url": "https://glygen.org/publication/PubMed/35790732" } ] }, { "title": "Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.", "journal": "Medicine", "date": "2022", "authors": "Lee YC, Lee MY, Shin HY", "evidence": [ { "database": "RefSeq", "id": "NP_031400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031400" } ], "reference": [ { "type": "PubMed", "id": "36596020", "url": "https://glygen.org/publication/PubMed/36596020" } ] } ], "pathway": [ { "id": "hsa:4990", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4990", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZCC7-1", "protein_name": "SIX homeobox 6", "gene_name": "Six6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAACEALNKNESVLRARAIVAFHGGNYRELYHILENHKFTKESHAKLQALWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRHLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQQQVLSQGPGRVLRSEGEGTPEVLGVASSPAASLSSKAATSAISITSSDSECDI", "length": 246 }, "evidence": [ { "id": "45924661", "url": "http://www.informatics.jax.org/homology/45924661", "database": "MGI" }, { "id": "O95475", "url": "https://omabrowser.org/oma/group/O95475/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9QZ28-1", "protein_name": "Homeobox protein SIX6", "gene_name": "Six6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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