Summary: 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 ankyrin-containing 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. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008].

regulatory factor X associated proteinMIM:601861Ensembl:ENSG00000133111HGNC:HGNC:9988PA3435813q13.3

GO terms in RFXAP

Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0016607nuclear speck
BPIBAGO:0045893positive regulation of transcription, DNA-templated
MFIBAGO:0003677DNA binding
MFNASGO:0003700DNA-binding transcription factor activity
MFTASGO:0003713transcription coactivator activity

Gene expression in normal tissue: RFXAP

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in RFXAP

DatabasePathway IDPathway Des.
kegghsa04612Antigen processing and presentation - Homo sapiens (human)
kegghsa05152Tuberculosis - Homo sapiens (human)
kegghsa05340Primary immunodeficiency - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in RFXAP