|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:FMR2
gptkb:FRAXE_mental_retardation_protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:AFF1
gptkb:AFF3
gptkb:AFF4
gptkb:FRAXE_intellectual_disability
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:AF4/FMR2_family_member_2_protein
|
|
gptkbp:Entrez_Gene_ID
|
2338
ENSG00000102104
|
|
gptkbp:family
|
gptkb:AF4/FMR2_family
|
|
gptkbp:fullName
|
gptkb:AF4/FMR2_family_member_2
|
|
gptkbp:function
|
transcriptional regulation
|
|
gptkbp:gene
|
gptkb:AFF2
|
|
gptkbp:geneFunction
|
transcriptional activator
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:320
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
AFF2
|
|
gptkbp:inheritance
|
X-linked
|
|
gptkbp:length
|
1310 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq28
gptkb:X_chromosome
|
|
gptkbp:molecularWeight
|
146 kDa
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
CGG trinucleotide repeat expansion
|
|
gptkbp:OMIM
|
300806
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Aff2
|
|
gptkbp:proteinFamily
|
gptkb:AFF_family
proline-rich region
nuclear localization signal
C-terminal homology domain
N-terminal homology domain
alanine-rich region
glutamine-rich region
serine-rich region
|
|
gptkbp:RefSeq
|
NM_002025
|
|
gptkbp:relatedSyndrome
|
gptkb:Fragile_XE_syndrome
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:tissue_specificity
|
brain
|
|
gptkbp:UniProtID
|
Q04792
|
|
gptkbp:bfsParent
|
gptkb:Xq28
|
|
gptkbp:bfsLayer
|
6
|