AFF2, Official Symbol AFF2provided by HGNC Official Full Name ALF transcription elongation factor 2provided by HGNC Primary source HGNC:HGNC:3776 See related Ensembl:ENSG00000155966 MIM:300806; AllianceGenome:HGNC:3776 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FMR2; MRX2; OX19; FMR2P; FRAXE; XLID109 Summary 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] Expression Biased expression in placenta (RPKM 3.7), bone marrow (RPKM 2.5) and 8 other tissues See more Orthologs mouse all