AFF2

Entrez Summary: 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 mental retardation. 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].
UniProt Summary: N/A

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/683

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/26
bone	0/25
breast	0/30
central nervous system	0/49
cervix	0/4
colorectal	0/17
esophagus	0/11
fibroblast	0/1
gastric	0/14
kidney	0/18
liver	0/19
lung	0/72
lymphocyte	0/14
ovary	0/25
pancreas	0/22
peripheral nervous system	0/15
plasma cell	0/12
prostate	0/1
skin	0/20
soft tissue	0/7
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/28
uterus	0/5

Expression Distribution

nuclear speck organization
ELL-EAF complex
G-quadruplex RNA binding
nuclear body organization
transcription elongation factor complex
double-stranded DNA binding
nucleus organization
regulation of RNA splicing
learning or memory
cognition
RNA splicing
nuclear speck
mRNA processing
behavior
DNA-binding transcription factor activity
mRNA metabolic process
brain development
head development
RNA processing
central nervous system development
nervous system process
RNA metabolic process
negative regulation of gene expression
system process
gene expression