======= AFF2 =======
== Gene Information ==
* **Official Symbol**: AFF2
* **Official Name**: AF4/FMR2 family member 2
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2334|2334]]
* **UniProt**: [[https://www.uniprot.org/uniprot/P51816|P51816]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=AFF2&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AFF2|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/300806|Open OMIM]]
== Function Summary ==
* **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
|AF-4|
|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|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp123|GSK-LSD1 10μM R03 exp123]]|-1.94|
|[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|-1.87|
|[[:results:exp114|A-196 10μM R03 exp114]]|-1.85|
|[[:results:exp536|Vitamin-D3 40μM R08 exp536]]|1.77|
No correlation found to any other genes in chemogenomics.
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|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 6477
* **Expression level (log2 read counts)**: 1.49
{{:chemogenomics:nalm6 dist.png?nolink |}}