======= 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 |}}