{ "uniprot_canonical_ac": "A0A0G2KAT2-1", "uniprot_ac": "A0A0G2KAT2", "uniprot_id": "A0A0G2KAT2_RAT", "mass": { "chemical_mass": 50373.0, "monoisotopic_mass": 50373.0 }, "refseq": { "ac": "NP_001100366", "name": "transcription factor AP-2-beta", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366" }, "gene_names": [ { "name": "Tfap2b", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2", "id": "A0A0G2KAT2" }, { "name": "Tcfap2b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366", "id": "NP_001100366" }, { "name": "Tfap2b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366", "id": "NP_001100366" } ], "protein_names": [ { "name": "Transcription factor AP-2 beta", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2#names_and_taxonomy", "id": "A0A0G2KAT2" }, { "name": "transcription factor AP-2-beta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366", "id": "NP_001100366" } ], "function": [], "disease": [ { "disease_id": "DOID:0060563", "recommended_name": { "id": "DOID:0060563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060563", "name": "Char syndrome", "description": "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits." }, "synonyms": [ { "id": "MONDO:0008209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008209", "name": "Char syndrome", "description": "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." }, { "id": "MONDO:0008209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008209", "name": "CHAR syndrome; CHAR", "description": "" }, { "id": "MONDO:0008209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008209", "name": "Char", "description": "" }, { "id": "MONDO:0008209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008209", "name": "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits", "description": "" }, { "id": "MONDO:0008209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008209", "name": "Char syndrome", "description": "" }, { "id": "MONDO:0008209", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008209", "name": "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits", "description": "" }, { "id": "MIM:169100", "resource": "MIM", "url": "https://www.omim.org/entry/169100", "name": "Char syndrome", "description": "Char syndrome" } ], "evidence": [ { "id": "0060563", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060563" } ] }, { "disease_id": "DOID:13550", "recommended_name": { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis." }, "synonyms": [ { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "ACG - Angle-closure glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Angle Closure Glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Angle-closure glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Closed angle glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Narrow cleft glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "primary open-angle glaucoma with narrow angles", "description": "" } ], "evidence": [ { "id": "13550", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ] }, { "disease_id": "DOID:13832", "recommended_name": { "id": "DOID:13832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13832", "name": "patent ductus arteriosus", "description": "" }, "synonyms": [ { "id": "DOID:13832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13832", "name": "Patent ductus Botalli", "description": "" }, { "id": "MONDO:0024560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024560", "name": "PDA1", "description": "" }, { "id": "MONDO:0024560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024560", "name": "PDA", "description": "" }, { "id": "MONDO:0024560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024560", "name": "patent ductus arteriosus 1; PDA1", "description": "" }, { "id": "MONDO:0024560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024560", "name": "PDA1", "description": "" } ], "evidence": [ { "id": "13832", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ] }, { "disease_id": "DOID:535", "recommended_name": { "id": "DOID:535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns." }, "synonyms": [ { "id": "DOID:535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:535", "name": "Non-organic sleep disorder", "description": "" } ], "evidence": [ { "id": "535", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:535" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAT2", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2" } ], "common_name": "Rat" } ], "gene": [ { "name": "Tfap2b", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2", "locus": { "chromosome": "9", "start_pos": 25410669, "end_pos": 25440411, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000011823", "url": "https://www.ensembl.org/id/ENSRNOG00000011823" } ] } } ], "crossref": [ { "id": "ENSRNOG00000011823", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000011823", "database": "Bgee" }, { "id": "301285", "url": "https://www.ncbi.nlm.nih.gov/gene/301285", "database": "GeneID" }, { "id": "IPR004979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004979", "database": "InterPro" }, { "id": "IPR008122", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008122", "database": "InterPro" }, { "id": "IPR013854", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013854", "database": "InterPro" }, { "id": "rno:301285", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:301285", "database": "KEGG Pathway" }, { "id": "WALLVTY", "url": "https://omabrowser.org/oma/group/WALLVTY/", "database": "OMA" }, { "id": "641707at2759", "url": "http://www.orthodb.org/?query=641707at2759", "database": "OrthoDB" }, { "id": "PTHR10812", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10812", "database": "PANTHER" }, { "id": "PTHR10812:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10812:SF14", "database": "PANTHER" }, { "id": "PF03299", "url": "http://pfam.xfam.org/family/PF03299", "database": "Pfam" }, { "id": "R-RNO-8866904", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8866904", "database": "Reactome" }, { "id": "R-RNO-8866907", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8866907", "database": "Reactome" }, { "id": "NP_001100366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366", "database": "RefSeq" }, { "id": "1306321", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1306321", "database": "RGD" }, { "id": "A0A0G2KAT2", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2", "database": "UniProtKB" }, { "id": "A0A0G2KAT2-1", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2-1", "database": "UniProtKB" }, { "id": "D4A505", "url": "https://www.uniprot.org/uniprot/D4A505", "database": "UniProtKB" }, { "id": "D4A505-1", "url": "https://www.uniprot.org/uniprot/D4A505-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTNRHTSGEGPGSKTGDKEEKHRK", "length": 459, "header": "tr|A0A0G2KAT2-1|A0A0G2KAT2_RAT Isoform 1 of Transcription factor AP-2 beta OS=Rattus norvegicus OX=10116 GN=Tfap2b PE=3 SV=1 CANONICAL=A0A0G2KAT2-1" }, "isoforms": [ { "isoform_ac": "A0A0G2KAT2-1", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2#A0A0G2KAT2-1", "sequence": { "sequence": "MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTNRHTSGEGPGSKTGDKEEKHRK", "length": 459, "header": "tr|A0A0G2KAT2-1|A0A0G2KAT2_RAT Isoform 1 of Transcription factor AP-2 beta OS=Rattus norvegicus OX=10116 GN=Tfap2b PE=3 SV=1 CANONICAL=A0A0G2KAT2-1" }, "locus": { "chromosome": "9", "start_pos": 21811512, "end_pos": 21786506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000090920.2", "url": "https://www.ensembl.org/id/ENSRNOT00000090920.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000075514.1", "url": "https://www.ensembl.org/id/ENSRNOP00000075514.1" } ] } }, { "isoform_ac": "D4A505-1", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2#D4A505-1", "sequence": { "sequence": "MLVHTYSSMDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTNRHTSGEGPGSKTGDKEEKHRK", "length": 441, "header": "tr|D4A505-1|D4A505_RAT Computationally mapped isoform of Transcription factor AP-2 beta OS=Rattus norvegicus OX=10116 GN=Tfap2b PE=3 SV=2 CANONICAL=A0A0G2KAT2-1" }, "locus": { "chromosome": "9", "start_pos": 21811512, "end_pos": 21789641, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000030912.5", "url": "https://www.ensembl.org/id/ENSRNOT00000030912.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000030726.4", "url": "https://www.ensembl.org/id/ENSRNOP00000030726.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.", "journal": "Nature genetics", "date": "2000", "authors": "Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD", "evidence": [ { "database": "RefSeq", "id": "NP_001100366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366" } ], "reference": [ { "type": "PubMed", "id": "10802654", "url": "https://glygen.org/publication/PubMed/10802654" } ] }, { "title": "Transcription factor AP-2beta regulates the neurotransmitter phenotype and maturation of chromaffin cells.", "journal": "Molecular and cellular neurosciences", "date": "2011", "authors": "Hong SJ, Huh YH, Leung A, Choi HJ, Ding Y, Kang UJ, Yoo SH, Buettner R, Kim KS", "evidence": [ { "database": "RefSeq", "id": "NP_001100366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366" } ], "reference": [ { "type": "PubMed", "id": "20875861", "url": "https://glygen.org/publication/PubMed/20875861" } ] }, { "title": "A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.", "journal": "PloS one", "date": "2011", "authors": "Zhao F, Bosserhoff AK, Buettner R, Moser M", "evidence": [ { "database": "RefSeq", "id": "NP_001100366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366" } ], "reference": [ { "type": "PubMed", "id": "21829553", "url": "https://glygen.org/publication/PubMed/21829553" } ] }, { "title": "Cloning and characterization of a second AP-2 transcription factor: AP-2 beta.", "journal": "Development (Cambridge, England)", "date": "1995", "authors": "Moser M, Imhof A, Pscherer A, Bauer R, Amselgruber W, Sinowatz F, Hofstadter F, Schule R, Buettner R", "evidence": [ { "database": "RefSeq", "id": "NP_001100366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366" } ], "reference": [ { "type": "PubMed", "id": "7555706", "url": "https://glygen.org/publication/PubMed/7555706" } ] }, { "title": "Transcription factor AP-2 regulates human insulin-like growth factor binding protein-5 gene expression.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Duan C, Clemmons DR", "evidence": [ { "database": "RefSeq", "id": "NP_001100366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366" } ], "reference": [ { "type": "PubMed", "id": "7559606", "url": "https://glygen.org/publication/PubMed/7559606" } ] }, { "title": "Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta.", "journal": "Genes & development", "date": "1997", "authors": "Moser M, Pscherer A, Roth C, Becker J, Mucher G, Zerres K, Dixkens C, Weis J, Guay-Woodford L, Buettner R, Fassler R", "evidence": [ { "database": "RefSeq", "id": "NP_001100366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100366" } ], "reference": [ { "type": "PubMed", "id": "9271117", "url": "https://glygen.org/publication/PubMed/9271117" } ] } ], "pathway": [ { "id": "rno:301285", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:301285", "resource": "KEGG Pathway" }, { "id": "R-RNO-8866904", "name": "Negative regulation of activity of TFAP2 (AP-2) family transcription factors", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8866904", "resource": "Reactome", "description": "Negative regulation of activity of TFAP2 (AP-2) family transcription factors" }, { "id": "R-RNO-8866907", "name": "Activation of the TFAP2 (AP-2) family of transcription factors", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8866907", "resource": "Reactome", "description": "Activation of the TFAP2 (AP-2) family of transcription factors" } ], "orthologs": [ { "uniprot_canonical_ac": "Q61313-1", "protein_name": "Transcription factor AP-2-beta", "gene_name": "Tfap2b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTNRHTSGEGPGSKTGDKEEKHRK", "length": 459 }, "evidence": [ { "id": "41489277", "url": "http://www.informatics.jax.org/homology/41489277", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q92481-1", "protein_name": "Transcription factor AP-2-beta", "gene_name": "TFAP2B", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK", "length": 460 }, "evidence": [ { "id": "41489277", "url": "http://www.informatics.jax.org/homology/41489277", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 45, "go_terms": [ { "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": "A0A0G2KAT2", "url": "https://www.uniprot.org/uniprot/A0A0G2KAT2" } ], "pmid": "" }, { 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