| UniProt Protein Function: | AFF2: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. Defects in AFF2 are the cause of mental retardation X- linked associated with fragile site FRAXE (MRFRAXE). A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island. Belongs to the AF4 family. 7 isoforms of the human protein are produced by alternative splicing.Protein type: DNA-bindingChromosomal Location of Human Ortholog: Xq28Cellular Component: nuclear speckBiological Process: brain development; regulation of RNA splicingDisease: Mental Retardation, X-linked, Associated With Fragile Site Fraxe |
| UniProt Protein Details: | |
| NCBI 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 Code: | P51816 |
| NCBI GenInfo Identifier: | 116241242 |
| NCBI Gene ID: | 2334 |
| NCBI Accession: | P51816.4 |
| UniProt Secondary Accession: | P51816,O43786, O60215, P78407, Q13521, Q14323, Q7Z2F7 A2RTY4, B4DXD5, B7WNQ1 |
| UniProt Related Accession: | P51816 |
| Molecular Weight: | 105,116 Da |
| NCBI Full Name: | AF4/FMR2 family member 2 |
| NCBI Synonym Full Names: | AF4/FMR2 family member 2 |
| NCBI Official Symbol: | AFF2 |
| NCBI Official Synonym Symbols: | FMR2; MRX2; OX19; FMR2P; FRAXE |
| NCBI Protein Information: | AF4/FMR2 family member 2 |
| UniProt Protein Name: | AF4/FMR2 family member 2 |
| UniProt Synonym Protein Names: | Fragile X E mental retardation syndrome protein; Fragile X mental retardation 2 protein; FMR2P; Protein FMR-2; Protein Ox19 |
| Protein Family: | AF4/FMR2 family |
| UniProt Gene Name: | AFF2 |
| UniProt Entry Name: | AFF2_HUMAN |
