AF4/FMR2 Family, Member 2 (AFF2)

AFF2encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. The cDNA sequence possessed both a putative start of translation and a poly(A) tail. The predicted protein had amino acid motifs that shared significant homology with the human AF4 gene, which encodes a putative transcription factor. On Northern analysis, the cDNA detected a 9.5-kb transcript in human brain, placenta, and lung. This transcript was present in multiple human brain tissues, but was more abundant in the hippocampus and the amygdala, thus providing possible functional insights.