Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 2028
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Acvr2b
Name: activin A receptor type 2B
Acc ID: DOID:9001436
Term: Immunodeficiency 68
Definition: An autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)
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)
Acvr2b ISOACVR2B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCYPMID:28492532
Go Back to source page   Continue to Ontology report