{ "uniprot_canonical_ac": "P63015-1", "uniprot_ac": "P63015", "uniprot_id": "PAX6_MOUSE", "mass": { "chemical_mass": 46683.0, "monoisotopic_mass": 46683.0 }, "refseq": { "ac": "NP_001231127", "name": "paired box protein Pax-6 isoform 1", "summary": "This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127" }, "gene_names": [ { "name": "Pax6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P63015", "id": "P63015" }, { "name": "1500038E17Rik; AEY11; Dey; Gsfaey11; Pax-6; Sey", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127", "id": "NP_001231127" }, { "name": "Pax-6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P63015", "id": "P63015" }, { "name": "Pax6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127", "id": "NP_001231127" }, { "name": "Sey", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P63015", "id": "P63015" } ], "protein_names": [ { "name": "Paired box protein Pax-6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#names_and_taxonomy", "id": "P63015" }, { "name": "Oculorhombin", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#names_and_taxonomy", "id": "P63015" }, { "name": "paired box protein Pax-6 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127", "id": "NP_001231127" }, { "name": "paired box protein Pax-6; oculorhombin; Dickie's small eye; paired box gene 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127", "id": "NP_001231127" } ], "function": [ { "annotation": "Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001231127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127" }, { "database": "PubMed", "id": "39488562", "url": "https://glygen.org/publication/PubMed/39488562" } ] }, { "annotation": "Pax6 expression, analyzed using a BAC transgene, revealed the presence of a paired-less isoform in the eye and olfactory bulb.", "evidence": [ { "database": "RefSeq", "id": "NP_001231127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127" }, { "database": "PubMed", "id": "16464444", "url": "https://glygen.org/publication/PubMed/16464444" } ] }, { "annotation": "This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001231127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127" } ] }, { "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 (PubMed:9163426). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (PubMed:23990468).", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015#function" }, { "database": "PubMed", "id": "9163426", "url": "https://glygen.org/publication/PubMed/9163426" }, { "database": "PubMed", "id": "23990468", "url": "https://glygen.org/publication/PubMed/23990468" } ] } ], "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: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:14515", "recommended_name": { "id": "DOID:14515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14515", "name": "WAGR syndrome", "description": "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes." }, "synonyms": [ { "id": "DOID:14515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14515", "name": "Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome", "description": "" }, { "id": "DOID:14515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14515", "name": "11p partial monosomy syndrome", "description": "" }, { "id": "DOID:14515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14515", "name": "chromosome 11p13 deletion syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "WAGR syndrome", "description": "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "11p partial monosomy syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Del(11)(p13)", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "WAGR 11p13 deletion syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "WAGR Syndrome/11p Deletion Syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "WAGR syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "chromosome 11p13 deletion syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "deletion 11p13", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "monosomy 11p13", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "11p deletion", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "11p deletion syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "11p monosomy", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "AGR triad", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "WAGR", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "WAGR Complex", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "chromosome 11P13 deletion syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "chromosome 11p deletion", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "chromosome 11p deletion syndrome", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "deletion 11p", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "monosomy 11p", "description": "" }, { "id": "MONDO:0008681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008681", "name": "partial monosomy 11p", "description": "" } ], "evidence": [ { "id": "14515", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14515" } ] }, { "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": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "gene": [ { "name": "Pax6", "url": "https://www.uniprot.org/uniprot/P63015", "locus": { "chromosome": "2", "start_pos": 105527709, "end_pos": 105499245, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000027168", "url": "https://www.ensembl.org/id/ENSMUSG00000027168" } ] } } ], "crossref": [ { "id": "MGI:97490", "url": "https://alliancegenome.org/gene/MGI:97490", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "P63015", "url": "https://alphafold.ebi.ac.uk/entry/P63015", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSMUSG00000027168", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000027168", "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": "18508", "url": "https://www.ncbi.nlm.nih.gov/gene/18508", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P63015", "url": "https://www.ebi.ac.uk/intact/interactors/id:P63015*", "database": "IntAct", "categories": [ "Other" ] }, { "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": "mmu:18508", "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:18508", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "97490", "url": "http://www.informatics.jax.org/marker/MGI:97490", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "PYWPRIQ", "url": "https://omabrowser.org/oma/group/PYWPRIQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "P63015", "url": "https://www.orthodb.org/?gene=P63015", "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": "PTHR45636:SF41", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45636:SF41", "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_P63015", "url": "http://purl.obolibrary.org/obo/PR_P63015", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001231127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A2A409", "url": "https://www.uniprot.org/uniprot/A2A409", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A409-1", "url": "https://www.uniprot.org/uniprot/A2A409-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A412", "url": "https://www.uniprot.org/uniprot/A2A412", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A412-1", "url": "https://www.uniprot.org/uniprot/A2A412-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P63015-1", "url": "https://www.uniprot.org/uniprot/P63015-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P63015-2", "url": "https://www.uniprot.org/uniprot/P63015-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P63015-3", "url": "https://www.uniprot.org/uniprot/P63015-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GXI6", "url": "https://www.uniprot.org/uniprot/V9GXI6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GXI6-1", "url": "https://www.uniprot.org/uniprot/V9GXI6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422, "header": "sp|P63015-1|PAX6_MOUSE Isoform 1 of Paired box protein Pax-6 OS=Mus musculus OX=10090 GN=Pax6 PE=1 SV=1 CANONICAL=P63015-1" }, "isoforms": [ { "isoform_ac": "A2A409-1", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#A2A409-1", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNENVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINR", "length": 139, "header": "tr|A2A409-1|PAX6_MOUSE Computationally mapped isoform of Paired box protein Pax-6 OS=Mus musculus OX=10090 GN=Pax6 PE=1 SV=1 CANONICAL=P63015-1" }, "locus": { "chromosome": "2", "start_pos": 105516140, "end_pos": 105510643, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000156216.3", "url": "https://www.ensembl.org/id/ENSMUST00000156216.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000119375.3", "url": "https://www.ensembl.org/id/ENSMUSP00000119375.3" } ] } }, { "isoform_ac": "A2A412-1", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#A2A412-1", "sequence": { "sequence": "MQNNGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFHLECQFPSKFPGVNLTCLSTGLDYSKERRREHVIERGNCVHSANDYVDTAVGYSGKKEKWRLEALHFVTVLNWSPGMD", "length": 254, "header": "tr|A2A412-1|A2A412_MOUSE Computationally mapped isoform of Paired box 6 OS=Mus musculus OX=10090 GN=Pax6 PE=1 SV=1 CANONICAL=P63015-1" }, "locus": { "chromosome": "2", "start_pos": 105526857, "end_pos": 105510643, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000111088.9", "url": "https://www.ensembl.org/id/ENSMUST00000111088.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000106717.3", "url": "https://www.ensembl.org/id/ENSMUSP00000106717.3" } ] } }, { "isoform_ac": "P63015-1", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#P63015-1", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 422, "header": "sp|P63015-1|PAX6_MOUSE Isoform 1 of Paired box protein Pax-6 OS=Mus musculus OX=10090 GN=Pax6 PE=1 SV=1 CANONICAL=P63015-1" }, "locus": { "chromosome": "2", "start_pos": 105526697, "end_pos": 105510643, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000090397.13", "url": "https://www.ensembl.org/id/ENSMUST00000090397.13" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000087878.7", "url": "https://www.ensembl.org/id/ENSMUSP00000087878.7" } ] } }, { "isoform_ac": "P63015-2", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#P63015-2", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNENVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 436, "header": "sp|P63015-2|PAX6_MOUSE Isoform 2 of Paired box protein Pax-6 OS=Mus musculus OX=10090 GN=Pax6 PE=1 SV=1 CANONICAL=P63015-1" }, "locus": { "chromosome": "2", "start_pos": 105526697, "end_pos": 105510643, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000167211.9", "url": "https://www.ensembl.org/id/ENSMUST00000167211.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000129344.3", "url": "https://www.ensembl.org/id/ENSMUSP00000129344.3" } ] } }, { "isoform_ac": "P63015-3", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#P63015-3", "sequence": { "sequence": "MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "length": 286, "header": "sp|P63015-3|PAX6_MOUSE Isoform 3 of Paired box protein Pax-6 OS=Mus musculus OX=10090 GN=Pax6 PE=1 SV=1 CANONICAL=P63015-1" }, "locus": {} }, { "isoform_ac": "V9GXI6-1", "url": "https://www.uniprot.org/uniprotkb/P63015/entry#V9GXI6-1", "sequence": { "sequence": "MQNSHSGVNQLGGVFVN", "length": 17, "header": "tr|V9GXI6-1|PAX6_MOUSE Computationally mapped isoform of Paired box protein Pax-6 OS=Mus musculus OX=10090 GN=Pax6 PE=1 SV=8 CANONICAL=P63015-1" }, "locus": { "chromosome": "2", "start_pos": 105514213, "end_pos": 105510643, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000142772.8", "url": "https://www.ensembl.org/id/ENSMUST00000142772.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000139168.2", "url": "https://www.ensembl.org/id/ENSMUSP00000139168.2" } ] } } ], "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_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner", "mining_tool_list": [ { "label": "GlycoSiteMiner", "url": "https://github.com/glygener/glycositeminer" } ], "filter_code": "00000000000000010000.00000000001000.01.01000" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool": "", "prediction_tool_list": [ { "label": "" } ], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "P63015", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63015" } ], "filter_code": "00000000000000000000.0000000.00000001000000.1000000.0100000000.1101100001111011.10000.01000" } ], "phosphorylation": [ { "start_pos": 108, "end_pos": 108, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" } ], "site_lbl": "Ser108" }, { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" } ], "site_lbl": "Thr113" }, { "start_pos": 281, "end_pos": 281, "kinase_uniprot_canonical_ac": "Q9QZR5-1", "kinase_gene_name": "Hipk2", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P63015", "url": "http://phospho.elm.eu.org/byAccession/P63015.html" }, { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" }, { "database": "PubMed", "id": "16407227", "url": "https://glygen.org/publication/PubMed/16407227" } ], "site_lbl": "Thr281" }, { "start_pos": 281, "end_pos": 281, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" } ], "site_lbl": "Thr281" }, { "start_pos": 304, "end_pos": 304, "kinase_uniprot_canonical_ac": "Q9QZR5-1", "kinase_gene_name": "Hipk2", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P63015", "url": "http://phospho.elm.eu.org/byAccession/P63015.html" }, { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" }, { "database": "PubMed", "id": "16407227", "url": "https://glygen.org/publication/PubMed/16407227" } ], "site_lbl": "Thr304" }, { "start_pos": 304, "end_pos": 304, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" } ], "site_lbl": "Thr304" }, { "start_pos": 307, "end_pos": 307, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" } ], "site_lbl": "Ser307" }, { "start_pos": 373, "end_pos": 373, "kinase_uniprot_canonical_ac": "Q9QZR5-1", "kinase_gene_name": "Hipk2", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P63015", "url": "http://phospho.elm.eu.org/byAccession/P63015.html" }, { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" }, { "database": "PubMed", "id": "16407227", "url": "https://glygen.org/publication/PubMed/16407227" } ], "site_lbl": "Thr373" }, { "start_pos": 373, "end_pos": 373, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" } ], "site_lbl": "Thr373" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.", "journal": "Genetics", "date": "2001", "authors": "Favor J, Peters H, Hermann T, Schmahl W, Chatterjee B, Neuhauser-Klaus A, Sandulache R", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "reference": [ { "type": "PubMed", "id": "11779807", "url": "https://glygen.org/publication/PubMed/11779807" } ] }, { "title": "Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kim EA, Noh YT, Ryu MJ, Kim HT, Lee SE, Kim CH, Lee C, Kim YH, Choi CY", "evidence": [ { "database": "iPTMnet", "id": "P63015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63015" } ], "reference": [ { "type": "PubMed", "id": "16407227", "url": "https://glygen.org/publication/PubMed/16407227" } ] }, { "title": "Analysis of Pax6 expression using a BAC transgene reveals the presence of a paired-less isoform of Pax6 in the eye and olfactory bulb.", "journal": "Developmental biology", "date": "2006", "authors": "Kim J, Lauderdale JD", "evidence": [ { "database": "RefSeq", "id": "NP_001231127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127" } ], "reference": [ { "type": "PubMed", "id": "16464444", "url": "https://glygen.org/publication/PubMed/16464444" } ] }, { "title": "Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system.", "journal": "Genes & development", "date": "2008", "authors": "Tuoc TC, Stoykova A", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "reference": [ { "type": "PubMed", "id": "18628401", "url": "https://glygen.org/publication/PubMed/18628401" } ] }, { "title": "Sumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain development.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Yan Q, Gong L, Deng M, Zhang L, Sun S, Liu J, Ma H, Yuan D, Chen PC, Hu X, Liu J, Qin J, Xiao L, Huang XQ, Zhang J, Li DW", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "reference": [ { "type": "PubMed", "id": "21084637", "url": "https://glygen.org/publication/PubMed/21084637" } ] }, { "title": "The paired-box homeodomain transcription factor Pax6 binds to the upstream region of the TRAP gene promoter and suppresses receptor activator of NF-\u03baB ligand (RANKL)-induced osteoclast differentiation.", "journal": "The Journal of biological chemistry", "date": "2013-10-25", "authors": "Kogawa Masakazu, Hisatake Koji, Atkins Gerald J, Findlay David M, Enoki Yuichiro, Sato Tsuyoshi, Gray Peter C, Kanesaki-Yatsuka Yukiko, Anderson Paul H, Wada Seiki, Kato Naoki, Fukuda Aya, Katayama Shigehiro, Tsujimoto Masafumi, Yoda Tetsuya, Suda Tatsuo, Okazaki Yasushi, Matsumoto Masahito", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "reference": [ { "type": "PubMed", "id": "23990468", "url": "https://glygen.org/publication/PubMed/23990468" } ] }, { "title": "Novel Antibodies for the Simple and Efficient Enrichment of Native O-GlcNAc Modified Peptides.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Burt RA, Dejanovic B, Peckham HJ, Lee KA, Li X, Ounadjela JR, Rao A, Malaker SA, Carr SA, Myers SA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P63015", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63015" } ], "reference": [ { "type": "PubMed", "id": "34678516", "url": "https://glygen.org/publication/PubMed/34678516" } ] }, { "title": "Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation.", "journal": "Scientific reports", "date": "2024-11-02", "authors": "Abbasi Mojdeh, Amini Maryam, Moustardas Petros, Gutsmiedl Quirin, Javidjam Dina, Suiwal Shweta, Seitz Berthold, Fries Fabian N, Dashti Ava, Rautavaara Yedizza, Stachon Tanja, Szentm\u00e1ry N\u00f3ra, Lagali Neil", "evidence": [ { "database": "RefSeq", "id": "NP_001231127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231127" } ], "reference": [ { "type": "PubMed", "id": "39488562", "url": "https://glygen.org/publication/PubMed/39488562" } ] }, { "title": "Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas.", "journal": "Nature", "date": "1997", "authors": "St-Onge L, Sosa-Pineda B, Chowdhury K, Mansouri A, Gruss P", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "reference": [ { "type": "PubMed", "id": "9163426", "url": "https://glygen.org/publication/PubMed/9163426" } ] } ], "pathway": [ { "id": "mmu:18508", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:18508", "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": "P63015", "url": "https://omabrowser.org/oma/group/P63015/", "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": "P63015", "url": "https://omabrowser.org/oma/group/P63015/", "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": "P63015", "url": "https://omabrowser.org/oma/group/P63015/", "database": "OMA" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "P63016-1", "protein_name": "Paired box protein Pax-6", "gene_name": "Pax6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGQGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ", "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": "P63015", "url": "https://omabrowser.org/oma/group/P63015/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "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": "P63015", "url": "https://omabrowser.org/oma/group/P63015/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" } ], "go_annotation": { "categories": [ { "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 91, "go_terms": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "pancreatic A cell development", "id": "GO:0003322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003322", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "regulation of asymmetric cell division", "id": "GO:0009786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009786", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "forebrain-midbrain boundary formation", "id": "GO:0021905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021905", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "glandular epithelial cell differentiation", "id": "GO:0002067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002067", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "insulin metabolic process", "id": "GO:1901142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901142", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "rhombomere morphogenesis", "id": "GO:0021593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021593", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "sensory neuron migration", "id": "GO:1904937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904937", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "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": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "cerebral cortex regionalization", "id": "GO:0021796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021796", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprot/P63015" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": 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