Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

RGD ID: 1306321
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tfap2b
Name: transcription factor AP-2 beta
Acc ID: DOID:0060563
Term: Char syndrome
Definition: A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10368122/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Tfap2b ISOTFAP2B (Homo sapiens)7240710OMIM  
Tfap2b ISOTFAP2B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Tfap2b ISOTFAP2B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Char syndromePMID:10368122 PMID:10802654 PMID:10955477 PMID:11505339 PMID:15684060 PMID:2010091 PMID:20301285 PMID:21643846 PMID:24507797 PMID:25741868 PMID:29555671 PMID:31012281 PMID:31292255 PMID:7645594 PMID:8326495
Tfap2b ISSTfap2b (Mus musculus)13592920MouseDOOMIM:169100 
Go Back to source page   Continue to Ontology report