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].

AF4/FMR2 family member 2MIM:300806Ensembl:ENSG00000155966HGNC:HGNC:3776PA28192Xq28

GO terms in AFF2

Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0002151G-quadruplex RNA binding
MFISSGO:0002151G-quadruplex RNA binding
MFIBAGO:0003690double-stranded DNA binding
MFIBAGO:0003690double-stranded DNA binding
MFIBAGO:0003700DNA-binding transcription factor activity
MFIBAGO:0003700DNA-binding transcription factor activity
CCIBAGO:0008023transcription elongation factor complex
CCIBAGO:0008023transcription elongation factor complex
CCIBAGO:0016607nuclear speck
CCIDAGO:0016607nuclear speck
CCIBAGO:0032783ELL-EAF complex
CCIBAGO:0032783ELL-EAF complex
BPIEAGO:0006397mRNA processing
BPTASGO:0007420brain development
BPIEAGO:0007611learning or memory
BPIEAGO:0008380RNA splicing
BPIMPGO:0010468regulation of gene expression
BPIEAGO:0010629negative regulation of gene expression
BPIMPGO:0035063nuclear speck organization
BPIBAGO:0043484regulation of RNA splicing
BPIMPGO:0043484regulation of RNA splicing

Gene expression in normal tissue: AFF2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in AFF2

DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in AFF2