AFF2

AFF2 is a putative transcriptional activator that is a member of the AF4\FMR2 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 gen

Full Name

AF4/FMR2 family, member 2

Function

RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.

Biological Process

Brain development
Learning or memory
mRNA processing
Negative regulation of gene expression
Nuclear speck organization
Regulation of gene expression
Regulation of RNA splicing
RNA splicing

Cellular Location

Nucleus speckle. When splicing is inhibited, accumulates in enlarged speckles.

Involvement in disease

Mental retardation, X-linked, associated with fragile site FRAXE (MRFRAXE): A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.