InnateDB Protein
|
IDBP-88446.7
|
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
|
ENSP00000286437
|
InnateDB Gene
|
IDBG-88442 (AFF2)
|
Protein Structure
|
|
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 |
|
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]
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0002151
|
G-quadruplex RNA binding
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007797
Transcription factor AF4/FMR2
|
PFAM |
PF05110
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P51816
|
PhosphoSite |
PhosphoSite-P51816
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
2334
|
UniGene |
Hs.496911
|
RefSeq |
NP_001164099
|
HUGO |
HGNC:3776
|
OMIM |
300806
|
CCDS |
CCDS55521
|
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
|
|
|