Version 5.4
Homo sapiens Protein: AFF2
Summary
InnateDB Protein IDBP-88452.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AFF2
Protein Name AF4/FMR2 family, member 2
Synonyms FMR2; FMR2P; FRAXE; MRX2; OX19;
Species Homo sapiens
Ensembl Protein ENSP00000359486
InnateDB Gene IDBG-88442 (AFF2)
Protein Structure
UniProt Annotation
Function RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. {ECO:0000269PubMed:19136466}.
Subcellular Localization Nucleus speckle {ECO:0000269PubMed:19136466}. Note=When splicing is inhibited, accumulates in enlarged speckles.
Disease Associations Mental retardation, X-linked, associated with fragile site FRAXE (MRFRAXE) [MIM:309548]: 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 adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:19136466, ECO:0000269PubMed:21739600}. Note=The disease is caused by mutations affecting the gene represented in this entry. It is 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.
Tissue Specificity Brain (most abundant in hippocampus and amygdala), placenta and lung.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002151 G-quadruplex RNA binding
Biological Process
GO:0006397 mRNA processing
GO:0007420 brain development
GO:0008380 RNA splicing
GO:0043484 regulation of RNA splicing
Cellular Component
GO:0016607 nuclear speck
Protein Structure and Domains
PDB ID
InterPro IPR007797 Transcription factor AF4/FMR2
PFAM PF05110
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P51816
PhosphoSite PhosphoSite-P51816
TrEMBL
UniProt Splice Variant
Entrez Gene 2334
UniGene Hs.496911
RefSeq NP_001162596
HUGO HGNC:3776
OMIM 300806
CCDS CCDS76040
HPRD 02397
IMGT
EMBL AB101711 AB101712 AB101713 AB101714 AB101715 AB101716 AB101717 AB101718 AB101719 AB101720 AB101721 AB101722 AB101723 AB101724 AB101725 AB101726 AB101727 AB101728 AB101729 AB101730 AB102644 AC002368 AC005731 AC006516 AC015552 AC231841 AF012603 AF012604 AF012605 AF012606 AF012607 AF012608 AF012609 AF012610 AF012611 AF012612 AF012613 AF012614 AF012615 AF012616 AF012617 AF012618 AF012619 AF012620 AF012621 AF012622 AF012623 AF012624 AH008014 AJ001550 AK301927 BC132683 BC143740 BC143744 CH471171 L76569 U48436 X95463
GenPept AAA99416 AAB71534 AAC82513 AAD45878 AAI32684 AAI43741 AAI43745 BAC80300 BAC80301 BAC80302 BAC80303 BAC80304 BAC80305 BAC80306 BAC80307 BAC80308 BAC80309 BAC80310 BAC80311 BAC80312 BAC80313 BAC80314 BAC80315 BAC80316 BAC80317 BAC80318 BAC80319 BAC81113 BAG63347 CAA04822 CAA64730 EAW61288

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca