|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
LAF4
MLLT2-like protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:facioscapulohumeral_muscular_dystrophy
intellectual disability
|
|
gptkbp:encodes
|
AF4/FMR2 family member 3 protein
|
|
gptkbp:Entrez_Gene_ID
|
3899
ENSG00000114784
|
|
gptkbp:expressedIn
|
gptkb:nucleus
gptkb:placenta
gptkb:testis
brain
lymphoid tissue
fetal liver
fetal brain
fetal kidney
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
AF4/FMR2 family member 3
|
|
gptkbp:function
|
transcriptional activator
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
transcription coactivator activity
nuclear localization
RNA polymerase II transcription regulator activity
|
|
gptkbp:has3DStructure
|
no experimentally determined structure
|
|
gptkbp:hasDiseaseAssociation
|
intellectual disability
FSHD2
|
|
gptkbp:hasParalog
|
gptkb:AFF1
gptkb:AFF4
gptkb:AFF2
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:320
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
AFF3
|
|
gptkbp:interactsWith
|
gptkb:RNA_polymerase_II
other AF4/FMR2 family proteins
|
|
gptkbp:involvedIn
|
transcription regulation
|
|
gptkbp:length
|
1227
|
|
gptkbp:locatedOnChromosome
|
2q11.1
|
|
gptkbp:memberOf
|
gptkb:AF4/FMR2_family
|
|
gptkbp:molecularWeight
|
134 kDa
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
FSHD2 (facioscapulohumeral muscular dystrophy type 2)
|
|
gptkbp:OMIM
|
601300
|
|
gptkbp:orthologInMouse
|
Aff3
|
|
gptkbp:proteinFamily
|
ALF domain
|
|
gptkbp:regulates
|
gene expression
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q9UHB7
|
|
gptkbp:bfsParent
|
gptkb:AFF2
|
|
gptkbp:bfsLayer
|
7
|