Version 5.4
Homo sapiens Gene: AFF2
Summary
InnateDB Gene IDBG-88442.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AFF2
Gene Name AF4/FMR2 family, member 2
Synonyms FMR2; FMR2P; FRAXE; MRX2; OX19
Species Homo sapiens
Ensembl Gene ENSG00000155966
Encoded Proteins
IDBP-88444
AF4/FMR2 family, member 2
IDBP-88446
AF4/FMR2 family, member 2
IDBP-88448
AF4/FMR2 family, member 2
IDBP-88450
AF4/FMR2 family, member 2
IDBP-88452
AF4/FMR2 family, member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome X:148500619-149000663
Strand Forward strand
Band q28
Transcripts
ENST00000370460 ENSP00000359489
ENST00000286437 ENSP00000286437
ENST00000342251 ENSP00000345459
ENST00000370458 ENSP00000359487
ENST00000370457 ENSP00000359486
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:0007611 learning or memory
GO:0008380 RNA splicing
GO:0043484 regulation of RNA splicing
Cellular Component
GO:0016607 nuclear speck
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031189
View Gene Order
ENSBTAG00000020750
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.496911
RefSeq NM_001169122 NM_001169123 NM_001169124 NM_001169125 NM_001170628 NM_002025
HUGO
OMIM
CCDS CCDS14684 CCDS55521 CCDS76040
HPRD 02397
IMGT
EMBL
GenPept
RNA Seq Atlas

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