{ "uniprot_canonical_ac": "O75364-1", "uniprot_ac": "O75364", "uniprot_id": "PITX3_HUMAN", "mass": { "chemical_mass": 31832.0, "monoisotopic_mass": 31832.0 }, "refseq": { "ac": "NP_005020", "name": "pituitary homeobox 3", "summary": "This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, "gene_names": [ { "name": "PITX3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75364", "id": "O75364" }, { "name": "ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PTX3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020", "id": "NP_005020" }, { "name": "PITX3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020", "id": "NP_005020" }, { "name": "PTX3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75364", "id": "O75364" } ], "protein_names": [ { "name": "Pituitary homeobox 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75364" }, { "name": "Homeobox protein PITX3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75364" }, { "name": "Paired-like homeodomain transcription factor 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75364" }, { "name": "homeobox protein PITX3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020", "id": "NP_005020" }, { "name": "pituitary homeobox 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020", "id": "NP_005020" } ], "function": [ { "annotation": "A family with posterior polar cataract with a novel deletion mutation in PITX3.", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, { "database": "PubMed", "id": "15286169", "url": "https://glygen.org/publication/PubMed/15286169" } ] }, { "annotation": "Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, { "database": "PubMed", "id": "31310388", "url": "https://glygen.org/publication/PubMed/31310388" } ] }, { "annotation": "Heterozygous mutation in the PITX3 gene is associated with ocular developmental defects.", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, { "database": "PubMed", "id": "29405783", "url": "https://glygen.org/publication/PubMed/29405783" } ] }, { "annotation": "Meta-analysis and HuGE review of genotype prevalence and gene-disease association. (HuGE Navigator) Review article", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, { "database": "PubMed", "id": "11994226", "url": "https://glygen.org/publication/PubMed/11994226" } ] }, { "annotation": "The functional analysis of these 2 PITX3 mutations in the in vitro functional studies is an important complement and extension, which provides a potential interpretation for the pathogenesis and molecular mechanism of PITX3 mutations associated with CC.", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, { "database": "PubMed", "id": "30816539", "url": "https://glygen.org/publication/PubMed/30816539" } ] }, { "annotation": "The mutation c.797_814del, p.Ser266_Ala271del is a novel mutation in the conserved DNA-binding OAR domain of PITX3 that causes congenital cataract. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, { "database": "PubMed", "id": "30894134", "url": "https://glygen.org/publication/PubMed/30894134" } ] }, { "annotation": "This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" } ] }, { "annotation": "Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75364", "url": "https://www.uniprot.org/uniprot/O75364#function" } ] }, { "annotation": "Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" }, { "database": "PubMed", "id": "34345029", "url": "https://glygen.org/publication/PubMed/34345029" } ] } ], "disease": [ { "disease_id": "DOID:0060648", "recommended_name": { "id": "DOID:0060648", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060648", "name": "anterior segment dysgenesis", "description": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye." }, "synonyms": [ { "id": "DOID:0060648", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060648", "name": "anterior segment developmental anomaly", "description": "" }, { "id": "DOID:0060648", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060648", "name": "corneal opacification and other ocular anomalies", "description": "" }, { "id": "DOID:0060648", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060648", "name": "sclerocornea with other ocular anomalies", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment dysgenesis 1", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment dysgenesis 1", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment dysgenesis 1, multiple subtypes", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "ASGD1", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "ASMD", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment mesenchymal dysgenesis", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment ocular dysgenesis", "description": "" }, { "id": "MIM:107250", "resource": "MIM", "url": "https://www.omim.org/entry/107250", "name": "Anterior segment dysgenesis 1", "description": "Anterior segment dysgenesis 1" } ], "evidence": [ { "id": "107250", "database": "MIM", "url": "https://www.omim.org/entry/107250" } ] }, { "disease_id": "DOID:0080606", "recommended_name": { "id": "DOID:0080606", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080606", "name": "anterior segment dysgenesis 1", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24." }, "synonyms": [ { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment dysgenesis 1", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment dysgenesis 1", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment dysgenesis 1, multiple subtypes", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "ASGD1", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "ASMD", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment mesenchymal dysgenesis", "description": "" }, { "id": "MONDO:0007138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007138", "name": "anterior segment ocular dysgenesis", "description": "" }, { "id": "MIM:107250", "resource": "MIM", "url": "https://www.omim.org/entry/107250", "name": "Anterior segment dysgenesis 1", "description": "Anterior segment dysgenesis 1" } ], "evidence": [ { "id": "107250", "database": "MIM", "url": "https://www.omim.org/entry/107250" } ] }, { "disease_id": "DOID:0110249", "recommended_name": { "id": "DOID:0110249", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110249", "name": "cataract 11 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24." }, "synonyms": [ { "id": "DOID:0110249", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110249", "name": "CTRCT11", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "cataract 11 multiple types", "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene." }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "CTRCT11", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "PITX3 early-onset non-syndromic cataract", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "cataract 11, syndromic, autosomal recessive", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "early-onset non-syndromic cataract caused by mutation in PITX3", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "CPP4", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "CTPP4", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "posterior polar cataract 4", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "Cpp4", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "Posterior polar cataract, 4", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "cataract 11 with microphthalmia and neurodevelopmental abnormalities", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "cataract 11, multiple types", "description": "" }, { "id": "MONDO:0012527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012527", "name": "cataract, posterior polar, 4", "description": "" }, { "id": "MIM:610623", "resource": "MIM", "url": "https://www.omim.org/entry/610623", "name": "Cataract 11, multiple types", "description": "Cataract 11, multiple types" } ], "evidence": [ { "id": "610623", "database": "MIM", "url": "https://www.omim.org/entry/610623" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "51.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.21", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "44.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "53.01", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "40.19", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "37.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "31.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "27.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "36.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000107859", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107859" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75364", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75364" } ], "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", 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"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": 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"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 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"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, 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"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", 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"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", 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"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", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "O75364", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75364" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75364", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75364" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75364", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75364" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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Med. Genet.", "date": "2004", "authors": "Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS", "evidence": [ { "database": "UniProtKB", "id": "O75364", "url": "https://www.uniprot.org/uniprot/O75364" }, { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" } ], "reference": [ { "type": "PubMed", "id": "15286169", "url": "https://glygen.org/publication/PubMed/15286169" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75364" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Identification of PITX3 mutations in individuals with various ocular developmental defects.", "journal": "Ophthalmic genetics", "date": "2018", "authors": "Zazo Seco C, Plaisancie J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" } ], "reference": [ { "type": "PubMed", "id": "29405783", "url": "https://glygen.org/publication/PubMed/29405783" } ] }, { "title": "PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.", "journal": "Molecular medicine reports", "date": "2019", "authors": "Wu Z, Meng D, Fang C, Li J, Zheng X, Lin J, Zeng H, Lv S, Zhang Z, Luan B, Zhong Z, Chen J", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" } ], "reference": [ { "type": "PubMed", "id": "30816539", "url": "https://glygen.org/publication/PubMed/30816539" } ] }, { "title": "A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.", "journal": "BMC medical genetics", "date": "2019", "authors": "Fan Q, Li D, Cai L, Qiu X, Zhao Z, Wu J, Yang J, Lu Y", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" } ], "reference": [ { "type": "PubMed", "id": "30894134", "url": "https://glygen.org/publication/PubMed/30894134" } ] }, { "title": "Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells.", "journal": "Journal of cellular biochemistry", "date": "2020", "authors": "Eskandarian Boroujeni M, Aliaghaei A, Maghsoudi N, Gardaneh M", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" } ], "reference": [ { "type": "PubMed", "id": "31310388", "url": "https://glygen.org/publication/PubMed/31310388" } ] }, { "title": "Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.", "journal": "Eye (London, England)", "date": "2022", "authors": "Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M", "evidence": [ { "database": "RefSeq", "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020" } ], "reference": [ { "type": "PubMed", "id": "34345029", "url": "https://glygen.org/publication/PubMed/34345029" } ] }, { "title": "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.", "journal": "Nature genetics", "date": "1998", "authors": "Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC", "evidence": [ { "database": "UniProtKB", "id": "O75364", "url": "https://www.uniprot.org/uniprot/O75364" } ], "reference": [ { "type": "PubMed", "id": "9620774", "url": "https://glygen.org/publication/PubMed/9620774" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "O35160-1", "protein_name": "Pituitary homeobox 3", "gene_name": "Pitx3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEFGLLGEAEARSPALSLSDAGTPHPPLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGGFAAPLGGLVPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGAPPGLAPAAVSSGAVSCPYASAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVPGPPPAANLSPCQYAVERPV", "length": 302 }, "evidence": [ { "id": "45919094", "url": "http://www.informatics.jax.org/homology/45919094", "database": "MGI" }, { "id": "O75364", "url": "https://omabrowser.org/oma/group/O75364/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P81062-1", "protein_name": "Pituitary homeobox 3", "gene_name": "Pitx3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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