Aliases for AFF2 Gene
External Ids for AFF2 Gene
Previous HGNC Symbols for AFF2 Gene
Previous GeneCards Identifiers for AFF2 Gene
This gene encodes 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 gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]
GeneCards Summary for AFF2 Gene
AFF2 (AF4/FMR2 Family Member 2) is a Protein Coding gene. Diseases associated with AFF2 include Mental Retardation, X-Linked, Associated With Fragile Site Fraxe and Fragile X Syndrome. Gene Ontology (GO) annotations related to this gene include G-quadruplex RNA binding. An important paralog of this gene is AFF3.
UniProtKB/Swiss-Prot for AFF2 Gene
RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.