Property Summary

NCBI Gene PubMed Count 20
PubMed Score 15.63
PubTator Score 23.84

Knowledge Summary


No data available


  Disease Sources (4)

Disease Target Count P-value
osteosarcoma 7933 6.54153655370853E-5
primitive neuroectodermal tumor 3031 3.33595554619284E-4
adult high grade glioma 2148 3.79897248059505E-4
posterior fossa group A ependymoma 1511 5.79976542042768E-4
ovarian cancer 8492 0.00283707414559663
invasive ductal carcinoma 2950 0.00920211005896024
group 4 medulloblastoma 1875 0.0111364880015799
subependymal giant cell astrocytoma 2287 0.0167392696661685
Disease Target Count Z-score Confidence
Severe Combined Immunodeficiency 46 5.113 2.6
Disease Target Count
Bare Lymphocyte Syndrome, Type 2 4


  Differential Expression (8)




  Ortholog (11)

Gene RIF (8)

26337469 Data show a negative correlation between microRNA miR-212-3p and regulatory factor X-associated protein (RFXAP) in pancreatic cancer (PC) tissue.
20732328 RFXAP(C) consists of two alpha-helices that form a V-shaped structure that packs within the RFX5(N)(2) staple.
20024540 Study demonstrates that coordinate loss of MHCII expression in OCI-Ly2 DLBCL cells is associated with an 11-base deletion in the cDNA encoding RFX-AP, that is required for activating MHCII transcription.
19274739 the interaction between RFX5 and RFXAP promote folding of a poorly structured region ofRFXAP, which is required for high affinity binding of RFXB to the RFX5.RFXAP complex
18723135 RFXAP and RFXB have roles in relieving autoinhibition of RFX5
18336911 The transcriptional silent state of RFXAP correlated with reduced recruitment of RNA polymerase II to RFXAP chromatin in the MHC-II deficiency patient.
16337482 Only the C-terminal half of the protein is conserved among vertebrates. The C-terminal third of RFXAP, with an extensive glutamine-rich tract, could rescue HLA-DR, but not HLA-DQ or HLA-DP expression in a bare lymphocyte syndrome cell line.
15210800 The identification of nuclear import and export sites on RFX molecules provides potential targets to modulate MHC class II expression.

AA Sequence


Text Mined References (23)

PMID Year Title
26337469 2015 Pancreatic cancer-derived exosomes transfer miRNAs to dendritic cells and inhibit RFXAP expression via miR-212-3p.
20732328 2010 Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.
20024540 2010 Coordinate loss of MHC class II expression in the diffuse large B cell lymphoma cell line OCI-Ly2 is due to a novel mutation in RFX-AP.
19274739 2009 Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP.
18723135 2008 Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.
18336911 2008 Transcriptional silencing of RFXAP in MHC class II-deficiency.
16337482 2006 Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression.
15781111 2005 Multiple interactions between BRG1 and MHC class II promoter binding proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15210800 2004 A hierarchy of nuclear localization signals governs the import of the regulatory factor X complex subunits and MHC class II expression.