|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CTIP1
gptkb:EVI9
gptkb:ZBTB29
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:beta-thalassemia
sickle cell disease
hematopoiesis
|
|
gptkbp:discoveredBy
|
Nakamura et al.
|
|
gptkbp:domain
|
gptkb:C2H2-type_zinc_finger
|
|
gptkbp:encodes
|
gptkb:B-cell_lymphoma/leukemia_11A_protein
|
|
gptkbp:Entrez_Gene_ID
|
53335
ENSG00000119866
|
|
gptkbp:expressedIn
|
embryonic development
erythroid cells
lymphoid cells
adult hematopoiesis
|
|
gptkbp:firstDescribed
|
2002
|
|
gptkbp:fullName
|
gptkb:B-cell_lymphoma/leukemia_11A
|
|
gptkbp:function
|
transcription factor
regulation of hemoglobin switching
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:13223
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BCL11A
|
|
gptkbp:interactsWith
|
gptkb:GATA1
gptkb:KLF1
gptkb:SOX6
gptkb:NuRD_complex
|
|
gptkbp:length
|
835 amino acids
|
|
gptkbp:locatedOnChromosome
|
2
2p16.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
speech disorder
|
|
gptkbp:OMIM
|
606557
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Bcl11a
|
|
gptkbp:regulates
|
gptkb:beta-globin_gene
gptkb:p21
gptkb:SOX2
gptkb:BCL6
gptkb:gamma-globin_gene
B-cell development
fetal hemoglobin expression
lymphoid lineage commitment
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:targetForGeneEditing
|
gptkb:CRISPR/Cas9
|
|
gptkbp:targetForTherapy
|
hemoglobinopathies
|
|
gptkbp:UniProtID
|
gptkb:Q9H165
|
|
gptkbp:zincFingerProtein
|
yes
|
|
gptkbp:bfsParent
|
gptkb:HBB
gptkb:HBB_gene
|
|
gptkbp:bfsLayer
|
6
|