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: 1313258
Species: Homo sapiens
RGD Object: Gene
Symbol: EPB42
Name: erythrocyte membrane protein band 4.2
Acc ID: DOID:0110920
Term: hereditary spherocytosis type 5
Definition: A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1558976 "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)
EPB42 IAGP 7240710OMIM  
EPB42 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
EPB42 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:25741868 PMID:28492532
EPB42 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5 
EPB42 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:28492532
EPB42 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:25741868
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:25741868 PMID:36203343
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:10406914 PMID:1558976 PMID:25741868 PMID:8319790
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:2386772 PMID:25741868 PMID:7772513
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:8528207
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:12176912
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:7803799
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:15692067 PMID:25741868 PMID:29402830 PMID:32726712 PMID:8547071 PMID:8635206
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:19508687 PMID:25741868 PMID:28492532
EPB42 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 5PMID:19508687
Go Back to source page   Continue to Ontology report