{ "uniprot_canonical_ac": "P63016-1", "uniprot_ac": "P63016", "uniprot_id": "PAX6_RAT", "mass": { "chemical_mass": 46754.0, "monoisotopic_mass": 46754.0 }, "refseq": { "ac": "NP_037133", "name": "paired box protein Pax-6", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" }, "gene_names": [ { "name": "Pax6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P63016", "id": "P63016" }, { "name": "Pax-6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P63016", "id": "P63016" }, { "name": "Pax6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133", "id": "NP_037133" }, { "name": "Sey", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P63016", "id": "P63016" } ], "protein_names": [ { "name": "Paired box protein Pax-6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/P63016/entry#names_and_taxonomy", "id": "P63016" }, { "name": "Oculorhombin", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P63016/entry#names_and_taxonomy", "id": "P63016" }, { "name": "paired box homeotic gene 6; oculorhombin; paired box gene 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133", "id": "NP_037133" }, { "name": "paired box protein Pax-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133", "id": "NP_037133" } ], "function": [ { "annotation": "Four upregulated transcription factors Pax6, Tp73, Cebpd, and Spi1, appeared as potent regulators of chronic post-traumatic brain injury (TBI) gene expression. They regulate molecular networks contributing to post-injury secondary damage, including apoptosis and inflammation, strengthening the feasibility of therapeutically targeting these molecular networks even after the acute post-TBI period. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" }, { "database": "PubMed", "id": "29482641", "url": "https://glygen.org/publication/PubMed/29482641" } ] }, { "annotation": "PAX6/CXCL14 regulatory axis promotes the repair of corneal injury by enhancing corneal epithelial cell proliferation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" }, { "database": "PubMed", "id": "38750454", "url": "https://glygen.org/publication/PubMed/38750454" } ] }, { "annotation": "Results demonstrate that the miR-365-PAX6 system regulates the conversion of astrocytes into neurons in the ischemic brain. Both exogenous expression of PAX6 and administration of miR-365 antagomir are likely to promote brain repair by enhancing neurogenesis in adult mammalian brain following ischemic injury.", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" }, { "database": "PubMed", "id": "29451327", "url": "https://glygen.org/publication/PubMed/29451327" } ] }, { "annotation": "Structural and functional defects of the respiratory neural system in the medulla and spinal cord of Pax6 mutant rats.", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" }, { "database": "PubMed", "id": "31301380", "url": "https://glygen.org/publication/PubMed/31301380" } ] }, { "annotation": "These results suggest that Pax6 immunoreactivity showed diverse patterns in the neurogenic zone after prenatal hypoxia and Pax6 has important effects on neurogenesis", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" }, { "database": "PubMed", "id": "29102934", "url": "https://glygen.org/publication/PubMed/29102934" } ] }, { "annotation": "Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters (By similarity). Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains. Acts as a transcriptional repressor of NFATC1-mediated gene expression (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016#function" }, { "database": "PubMed", "id": "11880342", "url": "https://glygen.org/publication/PubMed/11880342" }, { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015#function" } ] } ], "disease": [ { "disease_id": "DOID:0060673", "recommended_name": { "id": "DOID:0060673", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060673", "name": "Peters anomaly", "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3." }, "synonyms": [], "evidence": [ { "id": "0060673", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ] }, { "disease_id": "DOID:0060868", "recommended_name": { "id": "DOID:0060868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060868", "name": "leukoencephalopathy with vanishing white matter", "description": "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood." }, "synonyms": [ { "id": "DOID:0060868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060868", "name": "CACH", "description": "" }, { "id": "DOID:0060868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060868", "name": "childhood ataxia with central nervous system hypomyelination", "description": "" }, { "id": "DOID:0060868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060868", "name": "vanishing white matter leukodystrophy", "description": "" }, { "id": "DOID:0060868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060868", "name": "CACH/VWM", "description": "" }, { "id": "MONDO:0020507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020507", "name": "leukoencephalopathy with vanishing white matter 1", "description": "Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene." }, { "id": "MONDO:0020507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020507", "name": "CACH", "description": "" }, { "id": "MONDO:0020507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020507", "name": "childhood ataxia with central nervous system hypomyelinization", "description": "" }, { "id": "MONDO:0020507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020507", "name": "vanishing white matter leukodystrophy", "description": "" }, { "id": "MONDO:0020507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020507", "name": "Cree leukoencephalopathy", "description": "" }, { "id": "MIM:603896", "resource": "MIM", "url": "https://www.omim.org/entry/603896", "name": "Leukoencephalopathy with vanishing white matter 1", "description": "Leukoencephalopathy with vanishing white matter 1" } ], "evidence": [ { "id": "0060868", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060868" } ] }, { "disease_id": "DOID:0070373", "recommended_name": { "id": "DOID:0070373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070373", "name": "leukoencephalopathy with vanishing white matter 2", "description": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24." }, "synonyms": [ { "id": "MONDO:0957870", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957870", "name": "leukoencephalopathy with vanishing white matter 2", "description": "" }, { "id": "MIM:620312", "resource": "MIM", "url": "https://www.omim.org/entry/620312", "name": "Leukoencephalopathy with vanishing white matter 2", "description": "Leukoencephalopathy with vanishing white matter 2" } ], "evidence": [ { "id": "0070373", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070373" } ] }, { "disease_id": "DOID:0070530", "recommended_name": { "id": "DOID:0070530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070530", "name": "foveal hypoplasia 1", "description": "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "DOID:0070530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070530", "name": "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract", "description": "" }, { "id": "DOID:0070530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070530", "name": "FVH1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia 1", "description": "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "PAX6 foveal hypoplasia", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia 1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia caused by mutation in PAX6", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia type 1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "FVH1", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "O Donnell Pappas syndrome", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts", "description": "" }, { "id": "MONDO:0007628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007628", "name": "foveal hypoplasia, presenile cataract", "description": "" }, { "id": "MIM:136520", "resource": "MIM", "url": "https://www.omim.org/entry/136520", "name": "Foveal hypoplasia 1", "description": "Foveal hypoplasia 1" } ], "evidence": [ { "id": "0070530", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070530" } ] }, { "disease_id": "DOID:0070532", "recommended_name": { "id": "DOID:0070532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070532", "name": "aniridia 1", "description": "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common." }, "synonyms": [ { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia 1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "AN1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia 1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "cataract with late-onset corneal dystrophy", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia II", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia II, formerly", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "cataract, congenital, with late-onset corneal dystrophy", "description": "" }, { "id": "MIM:106210", "resource": "MIM", "url": "https://www.omim.org/entry/106210", "name": "Aniridia 1", "description": "Aniridia 1" } ], "evidence": [ { "id": "0070532", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070532" } ] }, { "disease_id": "DOID:0080610", "recommended_name": { "id": "DOID:0080610", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080610", "name": "anterior segment dysgenesis 5", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters anomaly", "description": "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters anomaly", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters anomaly (disease)", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "Peters congenital glaucoma", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "anterior segment dysgenesis 5, multiple subtypes", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "ASGD5", "description": "" }, { "id": "MONDO:0011414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011414", "name": "anterior segment dysgenesis 5", "description": "" }, { "id": "MIM:604229", "resource": "MIM", "url": "https://www.omim.org/entry/604229", "name": "Anterior segment dysgenesis 5", "description": "Anterior segment dysgenesis 5" } ], "evidence": [ { "id": "0080610", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080610" } ] }, { "disease_id": "DOID:0110233", "recommended_name": { "id": "DOID:0110233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110233", "name": "cataract 27", "description": "A cataract that has_material_basis_in mutation in the region 2p12." }, "synonyms": [ { "id": "DOID:0110233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110233", "name": "CTRCT27", "description": "" }, { "id": "DOID:0110233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110233", "name": "cataract 27 nuclear progressive", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27", "description": "A cataract that has material basis in mutation in the region 2p12." }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "CTRCT27", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27 nuclear progressive", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract type 27", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "Ccnp", "description": "" }, { "id": "MONDO:0011808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011808", "name": "cataract 27, nuclear progressive", "description": "" } ], "evidence": [ { "id": "0110233", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110233" } ] }, { "disease_id": "DOID:0111383", "recommended_name": { "id": "DOID:0111383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111383", "name": "autosomal dominant keratitis", "description": "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "DOID:0111383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111383", "name": "hereditary keratitis", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "autosomal dominant keratitis", "description": "Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia." }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "hereditary keratitis", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "keratitis, autosomal dominant", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "dominantly inherited keratitis", "description": "" }, { "id": "MONDO:0007848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007848", "name": "keratitis, hereditary", "description": "" }, { "id": "MIM:148190", "resource": "MIM", "url": "https://www.omim.org/entry/148190", "name": "Keratitis hereditary", "description": "Keratitis hereditary" } ], "evidence": [ { "id": "0111383", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111383" } ] }, { "disease_id": "DOID:0111531", "recommended_name": { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "bilateral optic nerve hypoplasia", "description": "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13." }, "synonyms": [ { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "ONH", "description": "" }, { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "familial bilateral optic nerve hypoplasia", "description": "" }, { "id": "DOID:0111531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111531", "name": "isolated optic nerve hypoplasia/aplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "isolated optic nerve hypoplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "Optic Nerve Hypoplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "familial bilateral optic nerve hypoplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve hypoplasia, bilateral", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve hypoplasia, familial bilateral", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "isolated optic nerve hypoplasia/aplasia", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve aplasia, bilateral", "description": "" }, { "id": "MONDO:0008136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008136", "name": "optic nerve hypoplasia", "description": "" }, { "id": "MIM:165550", "resource": "MIM", "url": "https://www.omim.org/entry/165550", "name": "Bilateral optic nerve hypoplasia", "description": "Bilateral optic nerve hypoplasia" } ], "evidence": [ { "id": "0111531", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111531" } ] }, { "disease_id": "DOID:10603", "recommended_name": { "id": "DOID:10603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10603", "name": "glucose intolerance", "description": "" }, "synonyms": [ { "id": "DOID:10603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10603", "name": "Malabsorption of glucose", "description": "" }, { "id": "DOID:10603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10603", "name": "Glucose malabsorption", "description": "" } ], "evidence": [ { "id": "10603", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ] }, { "disease_id": "DOID:10629", "recommended_name": { "id": "DOID:10629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small." }, "synonyms": [ { "id": "DOID:10629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10629", "name": "microphthalmos", "description": "" }, { "id": "DOID:10629", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10629", "name": "simple microphthalmos", "description": "" } ], "evidence": [ { "id": "10629", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ] }, { "disease_id": "DOID:1068", "recommended_name": { "id": "DOID:1068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1068", "name": "juvenile glaucoma", "description": "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures." }, "synonyms": [ { "id": "DOID:1068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1068", "name": "Glaucoma of childhood", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, A", "description": "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "JOAG1", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "JOAG1A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "MYOC juvenile glaucoma", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "MYOC juvenile open angle glaucoma", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, type A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1A, primary open angle", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "juvenile glaucoma caused by mutation in MYOC", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "juvenile open angle glaucoma caused by mutation in MYOC", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "GLC1A", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma 1, open angle, 50", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma hereditary, juvenile", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "glaucoma, primary open angle, juvenile-onset, 1", "description": "" }, { "id": "MONDO:0007664", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007664", "name": "primary open angle glaucoma juvenile onset 1", "description": "" }, { "id": "MIM:137750", "resource": "MIM", "url": "https://www.omim.org/entry/137750", "name": "Glaucoma 1, open angle, A", "description": "Glaucoma 1, open angle, A" } ], "evidence": [ { "id": "1068", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1068" } ] }, { "disease_id": "DOID:11975", "recommended_name": { "id": "DOID:11975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11975", "name": "coloboma of optic nerve", "description": "" }, "synonyms": [ { "id": "DOID:11975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11975", "name": "Coloboma of optic disc", "description": "" }, { "id": "DOID:11975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11975", "name": "Morning glory syndrome", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic nerve", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic nerve (disease)", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic papilla", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "optic nerve coloboma", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "congenital coloboma of the optic nerve", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "coloboma of optic disc", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "morning glory Disc anomaly", "description": "" }, { "id": "MONDO:0007354", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007354", "name": "optic nerve head pits, bilateral congenital", "description": "" }, { "id": "MIM:120430", "resource": "MIM", "url": "https://www.omim.org/entry/120430", "name": "Coloboma of optic nerve", "description": "Coloboma of optic nerve" } ], "evidence": [ { "id": "11975", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11975" } ] }, { "disease_id": "DOID:12271", "recommended_name": { "id": "DOID:12271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12271", "name": "aniridia", "description": "An iris disease that is characterized by a complete or partial absence of the colored part of the eye." }, "synonyms": [ { "id": "DOID:12271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12271", "name": "Aplasia of iris", "description": "" }, { "id": "DOID:12271", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12271", "name": "isolated aniridia", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia 1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "AN1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia 1", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "cataract with late-onset corneal dystrophy", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia II", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "aniridia II, formerly", "description": "" }, { "id": "MONDO:0024507", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024507", "name": "cataract, congenital, with late-onset corneal dystrophy", "description": "" }, { "id": "MIM:106210", "resource": "MIM", "url": "https://www.omim.org/entry/106210", "name": "Aniridia 1", "description": "Aniridia 1" } ], "evidence": [ { "id": "12271", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12271" } ] }, { "disease_id": "DOID:1229", "recommended_name": { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "paranoid schizophrenia", "description": "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening." }, "synonyms": [ { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "Paranoid type schizophrenia", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "Paraphrenia - late", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "Paraphrenic schizophrenia", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "chronic paranoid schizophrenia", "description": "" }, { "id": "DOID:1229", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1229", "name": "paranoid type schizophrenia subchronic state", "description": "" } ], "evidence": [ { "id": "1229", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1229" } ] }, { "disease_id": "DOID:12849", "recommended_name": { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." }, "synonyms": [ { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "Kanner's syndrome", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "childhood autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12849", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism spectrum disorder", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "Kanner's syndrome", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism (disease)", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "childhood autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism, susceptiblity to", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autistic disorder", "description": "" } ], "evidence": [ { "id": "12849", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ] }, { "disease_id": "DOID:14692", "recommended_name": { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Smith-Lemli-Opitz syndrome", "description": "" }, "synonyms": [ { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Smith-Opitz-Inborn syndrome", "description": "" }, { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Rutledge lethal multiple congenital anomaly syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Lemli-Opitz syndrome", "description": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "7-dehydrocholesterol reductase deficiency", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "RSH syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Rutledge lethal multiple congenital anomaly syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "SLO syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "SLOS", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Lemli-Opitz syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Opitz-inborn syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith Lemli Opitz syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "lethal acrodysgenital syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "polydactyly, sex reversal, renal hypoplasia, and unilobular lung", "description": "" }, { "id": "MIM:270400", "resource": "MIM", "url": "https://www.omim.org/entry/270400", "name": "Smith-Lemli-Opitz syndrome", "description": "Smith-Lemli-Opitz syndrome" } ], "evidence": [ { "id": "14692", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14692" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:83", "recommended_name": { "id": "DOID:83", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision." }, "synonyms": [ { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1 multiple types", "description": "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CTRCT1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "Duffy linked cataract", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "GJA8 cataract (disease)", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract (disease) caused by mutation in GJA8", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CAE1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CZP1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "zonular pulverulent cataract 1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, Duffy-linked", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, zonular pulverulent, 1", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "early-onset non-syndromic cataract", "description": "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "cataract, age-related nuclear", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "nuclear sclerosis of the lens", "description": "" }, { "id": "MIM:116200", "resource": "MIM", "url": "https://www.omim.org/entry/116200", "name": "Cataract 1, multiple types", "description": "Cataract 1, multiple types" } ], "evidence": [ { "id": "83", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:83" } ] }, { "disease_id": "DOID:9649", "recommended_name": { "id": "DOID:9649", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9649", "name": "congenital nystagmus", "description": "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction." }, "synonyms": [ { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "nystagmus 1, congenital, X-linked", "description": "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "FRMD7 congenital nystagmus", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "congenital nystagmus caused by mutation in FRMD7", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "nystagmus 1, congenital, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "NYS1", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "NYSTAGMUS 1, congenital, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus 1, congenital, X- linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus 1, infantile, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, congenital motor, 1", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, infantile idiopathic", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, infantile idiopathic, formerly", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Nystagmus, infantile periodic alternating, X-linked", "description": "" }, { "id": "MONDO:0010693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010693", "name": "Xlpan", "description": "" }, { "id": "MIM:310700", "resource": "MIM", "url": "https://www.omim.org/entry/310700", "name": "Nystagmus 1, congenital, X-linked", "description": "Nystagmus 1, congenital, X-linked" } ], "evidence": [ { "id": "9649", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9649" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "gene": [ { "name": "Pax6", "url": "https://www.uniprot.org/uniprot/P63016", "locus": { "chromosome": "3", "start_pos": 92157014, "end_pos": 92135637, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000004410", "url": "https://www.ensembl.org/id/ENSRNOG00000004410" } ] } } ], "crossref": [ { "id": "RGD:3258", "url": "https://alliancegenome.org/gene/RGD:3258", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "P63016", "url": "https://alphafold.ebi.ac.uk/entry/P63016", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSRNOG00000004410", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000004410", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00086", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00131", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00131", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "25509", "url": "https://www.ncbi.nlm.nih.gov/gene/25509", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR001356", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001356", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001523", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001523", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017970", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017970", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043182", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043182", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:25509", "url": "https://www.genome.jp/dbget-bin/www_bget?rno:25509", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "PYWPRIQ", "url": "https://omabrowser.org/oma/group/PYWPRIQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "P63016", "url": "https://www.orthodb.org/?gene=P63016", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45636:SF21", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636:SF21", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00046", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00292", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00292", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P63016", "url": "http://purl.obolibrary.org/obo/PR_P63016", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "3258", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=3258", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2JZE2", "url": "https://www.uniprot.org/uniprot/A0A0G2JZE2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JZE2-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JZE2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2Q206", "url": "https://www.uniprot.org/uniprot/A0A8L2Q206", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2Q206-1", "url": "https://www.uniprot.org/uniprot/A0A8L2Q206-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P63016-1", "url": "https://www.uniprot.org/uniprot/P63016-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P63016-2", "url": "https://www.uniprot.org/uniprot/P63016-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGQGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422, "header": "sp|P63016-1|PAX6_RAT Isoform 1 of Paired box protein Pax-6 OS=Rattus norvegicus OX=10116 GN=Pax6 PE=2 SV=1 CANONICAL=P63016-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JZE2-1", "url": "https://www.uniprot.org/uniprotkb/P63016/entry#A0A0G2JZE2-1", "sequence": { "sequence": "GHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDSENVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGQGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 433, "header": "tr|A0A0G2JZE2-1|PAX6_RAT Computationally mapped isoform of Paired box protein Pax-6 OS=Rattus norvegicus OX=10116 GN=Pax6 PE=2 SV=1 CANONICAL=P63016-1" }, "locus": { "chromosome": "3", "start_pos": 92156122, "end_pos": 92140126, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000089525", "url": "https://www.ensembl.org/id/ENSRNOT00000089525" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000071013", "url": "https://www.ensembl.org/id/ENSRNOP00000071013" } ] } }, { "isoform_ac": "A0A8L2Q206-1", "url": "https://www.uniprot.org/uniprotkb/P63016/entry#A0A8L2Q206-1", "sequence": { "sequence": "MVVLGGYIPGYSPGSDNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGQGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 436, "header": "tr|A0A8L2Q206-1|A0A8L2Q206_RAT Computationally mapped isoform of Paired box protein Pax-6 OS=Rattus norvegicus OX=10116 GN=Pax6 PE=3 SV=1 CANONICAL=P63016-1" }, "locus": { "chromosome": "3", "start_pos": 92156122, "end_pos": 92143229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000006302.8", "url": "https://www.ensembl.org/id/ENSRNOT00000006302.8" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000006302.6", "url": "https://www.ensembl.org/id/ENSRNOP00000006302.6" } ] } }, { "isoform_ac": "P63016-1", "url": "https://www.uniprot.org/uniprotkb/P63016/entry#P63016-1", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGQGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422, "header": "sp|P63016-1|PAX6_RAT Isoform 1 of Paired box protein Pax-6 OS=Rattus norvegicus OX=10116 GN=Pax6 PE=2 SV=1 CANONICAL=P63016-1" }, "locus": { "chromosome": "3", "start_pos": 92156122, "end_pos": 92140126, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000005882.6", "url": "https://www.ensembl.org/id/ENSRNOT00000005882.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000005882.3", "url": "https://www.ensembl.org/id/ENSRNOP00000005882.3" } ] } }, { "isoform_ac": "P63016-2", "url": "https://www.uniprot.org/uniprotkb/P63016/entry#P63016-2", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDSENVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGQGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 436, "header": "sp|P63016-2|PAX6_RAT Isoform 2 of Paired box protein Pax-6 OS=Rattus norvegicus OX=10116 GN=Pax6 PE=2 SV=1 CANONICAL=P63016-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool": "", "prediction_tool_list": [ { "label": "" } ], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 65, "start_aa": "Ser", "end_pos": 65, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser65", "evidence": [ { "id": "30286322", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30286322" }, { "id": "GLY_000493", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000493" } ], "mining_tool": "GlycoSiteMiner", "mining_tool_list": [ { "label": "GlycoSiteMiner", "url": "https://github.com/glygener/glycositeminer" } ], "filter_code": "00000000000000010000.00000000001000.01.01000" } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Pax6 regulates specification of ventral neurone subtypes in the hindbrain by establishing progenitor domains.", "journal": "Development (Cambridge, England)", "date": "2002", "authors": "Takahashi M, Osumi N", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "reference": [ { "type": "PubMed", "id": "11880342", "url": "https://glygen.org/publication/PubMed/11880342" } ] }, { "title": "Regional Immunoreactivity of Pax6 in the Neurogenic Zone After Chronic Prenatal Hypoxia.", "journal": "In vivo (Athens, Greece)", "date": "2017", "authors": "So K, Chung Y, Yu SK, Jun Y", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" } ], "reference": [ { "type": "PubMed", "id": "29102934", "url": "https://glygen.org/publication/PubMed/29102934" } ] }, { "title": "MicroRNA-365 modulates astrocyte conversion into neuron in adult rat brain after stroke by targeting Pax6.", "journal": "Glia", "date": "2018", "authors": "Mo JL, Liu Q, Kou ZW, Wu KW, Yang P, Chen XH, Sun FY", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" } ], "reference": [ { "type": "PubMed", "id": "29451327", "url": "https://glygen.org/publication/PubMed/29451327" } ] }, { "title": "Transcription factors Tp73, Cebpd, Pax6, and Spi1 rather than DNA methylation regulate chronic transcriptomics changes after experimental traumatic brain injury.", "journal": "Acta neuropathologica communications", "date": "2018", "authors": "Lipponen A, El-Osta A, Kaspi A, Ziemann M, Khurana I, Kn H, Navarro-Ferrandis V, Puhakka N, Paananen J, Pitkanen A", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" } ], "reference": [ { "type": "PubMed", "id": "29482641", "url": "https://glygen.org/publication/PubMed/29482641" } ] }, { "title": "Structural and functional defects of the respiratory neural system in the medulla and spinal cord of Pax6 mutant rats.", "journal": "Brain research bulletin", "date": "2019", "authors": "Ikeda K, Onimaru H, Inada H, Tien Lin S, Arata S, Osumi N", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" } ], "reference": [ { "type": "PubMed", "id": "31301380", "url": "https://glygen.org/publication/PubMed/31301380" } ] }, { "title": "PAX6/CXCL14 regulatory axis promotes the repair of corneal injury by enhancing corneal epithelial cell proliferation.", "journal": "Journal of translational medicine", "date": "2024-05-15", "authors": "Ma Ruijue, Li Yingxi, Dong Xiaoli, Zhang Yiming, Chen Xiaosu, Zhang Yue, Zou Haohan, Wang Yan", "evidence": [ { "database": "RefSeq", "id": "NP_037133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037133" } ], "reference": [ { "type": "PubMed", "id": "38750454", "url": "https://glygen.org/publication/PubMed/38750454" } ] } ], "pathway": [ { "id": "rno:25509", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?rno:25509", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0R4IQL7-1", "protein_name": "Paired box 6b", "gene_name": "pax6b", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MPQKEYHNQPTWESGVASMMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHDDAKVQLDNKNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPGQPNQDGCQQQDNGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFNTSVYQAIPQPTTPVSFTTGSMLGRPDTALTNTYTGLPPMPSFTMANNLPMQPSQTSSYSCMLPSSPSVNGRSFDTYTPPHMQAHMNSQTMATSGTASTGLISPGVSVPVQVPGTEPDMSQYWSRLQ", "length": 450 }, "evidence": [ { "id": "FB:FBgn0019650", "url": "https://alliancegenome.org/gene/FB:FBgn0019650#orthology", "database": "AGR" }, { "id": "RGD:3258", "url": "https://alliancegenome.org/gene/RGD:3258#orthology", "database": "AGR" }, { "id": "MGI:97490", "url": "https://alliancegenome.org/gene/MGI:97490#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-001031-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-001031-1#orthology", "database": "AGR" }, { "id": "HGNC:8620", "url": "https://alliancegenome.org/gene/HGNC:8620#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A4X1SWS9-1", "protein_name": "Paired box protein Pax-6", "gene_name": "PAX6", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422 }, "evidence": [ { "id": "P63016", "url": "https://omabrowser.org/oma/group/P63016/", "database": "OMA" } ], "glygen_name": "Pig", "common_name": "Pig" }, { "uniprot_canonical_ac": "A0A6H2EG63-1", "protein_name": "Twin of eyeless, isoform D", "gene_name": "toy", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MMLTTEHIMHGHPHSSVGQSTLFGCSTAGHSGINQLGGVYVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIKPRAIGGSKPRVATTPVVQKIADYKRECPSIFAWEIRDRLLSEQVCNSDNIPSVSSINRVLRNLASQKEQQAQQQNESVYEKLRMFNGQTGGWAWYPSNTTTAHLTLPPAASVVTSPANLSGQADRDDVQKRELQFSVEVSHTNSHDSTSDGNSEHNSSGDEDSQMRLRLKRKLQRNRTSFSNEQIDSLEKEFERTHYPDVFARERLADKIGLPEARIQVWFSNRRAKWRREEKMRTQRRSADTVDGSGRTSTANNPSGTTASSSVATSNNSTPGIVNSAINVAERTSSALVSNSLPEASNGPTVLGGEANTTHTSSESPPLQPAAPRLPLNSGFNTMYSSIPQPIATMAENYNSSLGSMTPSCLQQRDAYPYMFHDPLSLGSPYVSAHHRNTACNPSAAHQQPPQHGVYTNSSPMPSSNTGVISAGVSVPVQISTQNVSDLTGSNYWPRLQXSSIFGSPLDHLSKATAAAIIAAQAAEKSHKHRKEHSIVSIHTTKRKKNPPSLKRQTTCCSSRYLNMTFGAGKDVDVVIGQGLIVSLTPHISGKPELFGSPNVNYHQDFQVI", "length": 655 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-990415-200", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-200#orthology", "database": "AGR" }, { "id": "FB:FBgn0019650", "url": "https://alliancegenome.org/gene/FB:FBgn0019650#orthology", "database": "AGR" }, { "id": "RGD:3258", "url": "https://alliancegenome.org/gene/RGD:3258#orthology", "database": "AGR" }, { "id": "MGI:97490", "url": "https://alliancegenome.org/gene/MGI:97490#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-001031-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-001031-1#orthology", "database": "AGR" }, { "id": "HGNC:8620", "url": "https://alliancegenome.org/gene/HGNC:8620#orthology", "database": "AGR" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "O18381-1", "protein_name": "Paired box protein Pax-6", "gene_name": "ey", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MRNLPCLGTAGGSGLGGIAGKPSPTMEAVEASTASHRHSTSSYFATTYYHLTDDECHSGVNQLGGVFVGGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATAEVVSKISQYKRECPSIFAWEIRDRLLQENVCTNDNIPSVSSINRVLRNLAAQKEQQSTGSGSSSTSAGNSISAKVSVSIGGNVSNVASGSRGTLSSSTDLMQTATPLNSSESGGASNSGEGSEQEAIYEKLRLLNTQHAAGPGPLEPARAAPLVGQSPNHLGTRSSHPQLVHGNHQALQQHQQQSWPPRHYSGSWYPTSLSEIPISSAPNIASVTAYASGPSLAHSLSPPNDIESLASIGHQRNCPVATEDIHLKKELDGHQSDETGSGEGENSNGGASNIGNTEDDQARLILKRKLQRNRTSFTNDQIDSLEKEFERTHYPDVFARERLAGKIGLPEARIQVWFSNRRAKWRREEKLRNQRRTPNSTGASATSSSTSATASLTDSPNSLSACSSLLSGSAGGPSVSTINGLSSPSTLSTNVNAPTLGAGIDSSESPTPIPHIRPSCTSDNDNGRQSEDCRRVCSPCPLGVGGHQNTHHIQSNGHAQGHALVPAISPRLNFNSGSFGAMYSNMHHTALSMSDSYGAVTPIPSFNHSAVGPLAPPSPIPQQGDLTPSSLYPCHMTLRPPPMAPAHHHIVPGDGGRPAGVGLGSGQSANLGASCSGSGYEVLSAYALPPPPMASSSAADSSFSAASSASANVTPHHTIAQESCPSPCSSASHFGVAHSSGFSSDPISPAVSSYAHMSYNYASSANTMTPSSASGTSAHVAPGKQQFFASCFYSPWV", "length": 857 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-990415-200", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-200#orthology", "database": "AGR" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P26367-1", "protein_name": "Paired box protein Pax-6", "gene_name": "PAX6", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-990415-200", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-200#orthology", "database": "AGR" }, { "id": "FB:FBgn0019650", "url": "https://alliancegenome.org/gene/FB:FBgn0019650#orthology", "database": "AGR" }, { "id": "RGD:3258", "url": "https://alliancegenome.org/gene/RGD:3258#orthology", "database": "AGR" }, { "id": "MGI:97490", "url": "https://alliancegenome.org/gene/MGI:97490#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-001031-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-001031-1#orthology", "database": "AGR" }, { "id": "HGNC:8620", "url": "https://alliancegenome.org/gene/HGNC:8620#orthology", "database": "AGR" }, { "id": "P63016", "url": "https://omabrowser.org/oma/group/P63016/", "database": "OMA" } ], "glygen_name": "Human", "common_name": "Human" }, { "uniprot_canonical_ac": "P26630-1", "protein_name": "Paired box protein Pax-6", "gene_name": "pax6a", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MPQKEYYNRATWESGVASMMQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVGKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYEKLRMLNGQTGTWGTRPGWYPGTSVPGQPNQDGCQQSDGGGENTNSISSNGEDSDETQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNSSSHIPISSSFSTSVYQPIPQPTTPVSFTSGSMLGRSDTALTNTYSALPPMPSFTMANNLPMQPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQAHMNSQSMAASGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 437 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-990415-200", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-200#orthology", "database": "AGR" }, { "id": "FB:FBgn0019650", "url": "https://alliancegenome.org/gene/FB:FBgn0019650#orthology", "database": "AGR" }, { "id": "RGD:3258", "url": "https://alliancegenome.org/gene/RGD:3258#orthology", "database": "AGR" }, { "id": "MGI:97490", "url": "https://alliancegenome.org/gene/MGI:97490#orthology", "database": "AGR" }, { "id": "HGNC:8620", "url": "https://alliancegenome.org/gene/HGNC:8620#orthology", "database": "AGR" }, { "id": "P63016", "url": "https://omabrowser.org/oma/group/P63016/", "database": "OMA" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "P63015-1", "protein_name": "Paired box protein Pax-6", "gene_name": "Pax6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422 }, "evidence": [ { "id": "ZFIN:ZDB-GENE-990415-200", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-200#orthology", "database": "AGR" }, { "id": "FB:FBgn0019650", "url": "https://alliancegenome.org/gene/FB:FBgn0019650#orthology", "database": "AGR" }, { "id": "RGD:3258", "url": "https://alliancegenome.org/gene/RGD:3258#orthology", "database": "AGR" }, { "id": "MGI:97490", "url": "https://alliancegenome.org/gene/MGI:97490#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-001031-1", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-001031-1#orthology", "database": "AGR" }, { "id": "HGNC:8620", "url": "https://alliancegenome.org/gene/HGNC:8620#orthology", "database": "AGR" }, { "id": "P63016", "url": "https://omabrowser.org/oma/group/P63016/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q1LZF1-1", "protein_name": "Paired box protein Pax-6", "gene_name": "PAX6", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGATSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422 }, "evidence": [ { "id": "P63016", "url": "https://omabrowser.org/oma/group/P63016/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 22, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "co-SMAD binding", "id": "GO:0070410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070410", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "RNA polymerase II core promoter sequence-specific DNA binding", "id": "GO:0000979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000979", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "HMG box domain binding", "id": "GO:0071837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071837", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "R-SMAD binding", "id": "GO:0070412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070412", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "minor groove of adenine-thymine-rich DNA binding", "id": "GO:0003680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003680", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 96, "go_terms": [ { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "pancreatic A cell development", "id": "GO:0003322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003322", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "regulation of asymmetric cell division", "id": "GO:0009786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009786", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "forebrain-midbrain boundary formation", "id": "GO:0021905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021905", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell differentiation", "id": "GO:0030858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030858", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cerebral cortex regionalization", "id": "GO:0021796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021796", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "protein localization to organelle", "id": "GO:0033365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033365", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "commitment of neuronal cell to specific neuron type in forebrain", "id": "GO:0021902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021902", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "oligodendrocyte cell fate specification", "id": "GO:0021778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021778", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "forebrain dorsal/ventral pattern formation", "id": "GO:0021798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021798", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "embryonic camera-type eye morphogenesis", "id": "GO:0048596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048596", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "lacrimal gland development", "id": "GO:0032808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032808", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "type B pancreatic cell differentiation", "id": "GO:0003309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003309", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "regulation of timing of cell differentiation", "id": "GO:0048505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048505", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "iris morphogenesis", "id": "GO:0061072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061072", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cornea development in camera-type eye", "id": "GO:0061303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061303", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "habenula development", "id": "GO:0021986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021986", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "olfactory bulb mitral cell layer development", "id": "GO:0061034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061034", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "glandular epithelial cell differentiation", "id": "GO:0002067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002067", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "insulin metabolic process", "id": "GO:1901142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901142", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "rhombomere morphogenesis", "id": "GO:0021593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021593", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "learned vocalization behavior or vocal learning", "id": "GO:0098598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098598", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "positive regulation of glutamatergic neuron differentiation", "id": "GO:0120008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120008", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "sensory neuron migration", "id": "GO:1904937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904937", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P63016", "url": "https://www.uniprot.org/uniprot/P63016" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", 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