AFF2

This gene encodes 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. 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]

Description

AF4/FMR2 family member 2

Tissue specificity

Tissue enhanced (bone marrow, brain, epididymis, placenta)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (148500617 - 149000663)

Ensembl ID

ENSG00000155966  (ver. 103.38)

Orthologs

Mouse Aff2: ENSMUSG00000031189

UniProt

P51816

neXtProt

NX_P51816

Human splice variants
Mouse splice variants

Protein structure