AFF2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| AF4/FMR2 family member 2 | MIM:300806 | Ensembl:ENSG00000155966 | HGNC:HGNC:3776 | PA28192 | Xq28 |
GO terms in AFF2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0002151 | G-quadruplex RNA binding |
| MF | ISS | GO:0002151 | G-quadruplex RNA binding |
| MF | IBA | GO:0003690 | double-stranded DNA binding |
| MF | IBA | GO:0003690 | double-stranded DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| CC | IBA | GO:0005634 | nucleus |
| CC | IBA | GO:0008023 | transcription elongation factor complex |
| CC | IBA | GO:0008023 | transcription elongation factor complex |
| CC | IBA | GO:0016607 | nuclear speck |
| CC | IDA | GO:0016607 | nuclear speck |
| CC | IBA | GO:0032783 | ELL-EAF complex |
| CC | IBA | GO:0032783 | ELL-EAF complex |
| BP | IEA | GO:0006397 | mRNA processing |
| BP | TAS | GO:0007420 | brain development |
| BP | IEA | GO:0007611 | learning or memory |
| BP | IEA | GO:0008380 | RNA splicing |
| BP | IMP | GO:0010468 | regulation of gene expression |
| BP | IEA | GO:0010629 | negative regulation of gene expression |
| BP | IMP | GO:0035063 | nuclear speck organization |
| BP | IBA | GO:0043484 | regulation of RNA splicing |
| BP | IMP | GO:0043484 | regulation of RNA splicing |
Gene expression in normal tissue: AFF2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AFF2
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AFF2
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