Disease relevance of RFX4

• Expression of RFX4 mRNA was not observed in other tumors, such as lung, esophageal, stomach, colon or liver cancers [1].
• Antibody against RFX4 was detected in the sera of 3 of 58 (5%) glioma patients by enzyme-linked immunosorbent assay, suggesting the immunogenicity of RFX4-E and -F proteins in glioma patients [1].

Psychiatry related information on RFX4

• The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms and the proximity of the locus to numerous linkage signals on chromosome 12q23 [2].

High impact information on RFX4

• By using a chimeric protein of RFX1 and RFX4, the C-terminal domain of RFX4 was shown to be a possible transcriptional repression domain [3].
• The expression of RFX4 is restricted to testis [3].
• In vitro synthesized RFX4 protein bound to typical RFX binding sites in a sequence-dependent manner [3].
• Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4 [2].
• Evidence for potential disease association with mutations across the RFX4 region came also from the analysis of the nearby microsatellite D12S2072 (empirical P=0.009 in our full sample) [2].

Biological context of RFX4

• In contrast to other mammalian RFX members that form dimers, RFX4 is revealed to have no distinct transcriptional activation domains [3].
• Investigation of RFX4 brain cDNA tagged by rs10778502 provided evidence for significant allelic differences in expression (P<0.001), where some of the variance was accounted for by the genotype at ss24735177 [2].
• RFX4 was screened for sequence variants and the LD block structure across the genomic region determined using 22 biallelic polymorphisms (minor allele frequency >or=0.1) [2].

Other interactions of RFX4

• Western blot analysis using DC28 monoclonal antibody (mAb) produced against recombinant RFX4-D C-terminus protein showed expression of RFX4-A and -C proteins, but not RFX4-B protein, in the testis, and expression of RFX4-D protein in the brain [1].

Analytical, diagnostic and therapeutic context of RFX4

• Here, we report the molecular cloning and characterization of human RFX4 [3].

References