Aliases for RFXANK Gene
External Ids for RFXANK Gene
Previous GeneCards Identifiers for RFXANK Gene
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
GeneCards Summary for RFXANK Gene
RFXANK (Regulatory Factor X Associated Ankyrin Containing Protein) is a Protein Coding gene. Diseases associated with RFXANK include Bare Lymphocyte Syndrome, Type Ii and Combined Immunodeficiency. Among its related pathways are Primary immunodeficiency and Allograft rejection. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coregulator activity. An important paralog of this gene is ANKRA2.
UniProtKB/Swiss-Prot Summary for RFXANK Gene
Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1 (By similarity).
Isoform 2 is not involved in the positive regulation of MHC class II genes.