Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for RFXANK (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8625
Official gene symbolRFXANK
Full nameregulatory factor X-associated ankyrin-containing protein
Aliases,ANKRA1,BLS,F14150_1,MGC138628,RFX-B,
Gene summaryMajor 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. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. [provided by RefSeq]
LocationChromosome: 19   Locus: 19p12
Gene position19303008 - 19312678  Map Viewer
Gene orientationplus
Gene size9671 bp
Gene sequence
OMIM ID603200