RFXAP
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:601861 Ensembl IDEnsembl:ENSG00000133111 HGNC IDHGNC:HGNC:9988 PHARMGKB IDPA34358 Map Location13q13.3 |
GO terms in RFXAP
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IBA | GO:0005634 | nucleus |
CC | IDA | GO:0016607 | nuclear speck |
BP | IBA | GO:0045893 | positive regulation of transcription, DNA-templated |
MF | IBA | GO:0003677 | DNA binding |
MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
MF | TAS | GO:0003713 | transcription coactivator activity |
Gene expression in normal tissue: RFXAP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RFXAP
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in RFXAP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |