Property Summary

NCBI Gene PubMed Count 19
PubMed Score 663.32
PubTator Score 26.83

Knowledge Summary


No data available


  Differential Expression (2)

Disease log2 FC p
glioblastoma multiforme 1.100 1.8e-24
ovarian cancer 1.200 3.1e-04

Gene RIF (8)

26634365 mutation results in Bare Lymphocyte Syndrome, Type 2 in a child of Mexican descent
21908431 genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1)
20414676 Findings confirm the association between the high frequency of the combined immunodeficiency and the defect in MHC class II expression and provides strong evidence for a founder effect of the 752delG26 mutation in the North African population.
18723135 RFXAP and RFXB have roles in relieving autoinhibition of RFX5
16166641 analysis of RFXANK domains and function
15964851 ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression
12618906 in vivo effects of mutations on the expression of the RFXANK RNA and protein
11836625 Low levels of RFX-B are found in macrophages of colorectal cancer patients, partly explaining immunodeficiency in cancer.

AA Sequence


Text Mined References (22)

PMID Year Title
26634365 2016 Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.
22649097 2012 Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.
21908431 2011 Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
20732328 2010 Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.
20414676 2010 The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.
18723135 2008 Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16166641 2005 New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.
15964851 2005 Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
12618906 2003 Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11463838 2001 Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
10825209 2000 Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.
10803838 2000 Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
10725724 2000 Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
10329666 1999 The ankyrin repeat-containing adaptor protein Tvl-1 is a novel substrate and regulator of Raf-1.
10072068 1999 RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
9806546 1998 A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.