|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CTIP1
gptkb:EVI9
|
|
gptkbp:associatedWith
|
gptkb:beta-thalassemia
sickle cell disease
lymphoid malignancies
|
|
gptkbp:discoveredBy
|
Satterwhite et al.
|
|
gptkbp:discoveredIn
|
2001
|
|
gptkbp:encodes
|
gptkb:B-cell_lymphoma/leukemia_11A_protein
|
|
gptkbp:Entrez_Gene_ID
|
53335
ENSG00000119866
|
|
gptkbp:expressedIn
|
gptkb:thymus
brain
spleen
hematopoietic cells
fetal liver
|
|
gptkbp:function
|
transcription factor
B-cell development
regulation of hemoglobin switching
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:19174
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Bcl11a
|
|
gptkbp:interactsWith
|
gptkb:NuRD_complex
COUP-TFII
|
|
gptkbp:locatedOnChromosome
|
chromosome 2 (human)
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
immunodeficiency
|
|
gptkbp:OMIM
|
606557
|
|
gptkbp:orthologInMouse
|
Bcl11a (mouse)
|
|
gptkbp:proteinFamily
|
C2H2-type zinc finger protein
|
|
gptkbp:regulates
|
neuronal development
fetal hemoglobin expression
globin gene expression
B-cell maturation
|
|
gptkbp:target
|
gene therapy for hemoglobinopathies
|
|
gptkbp:UniProtID
|
gptkb:Q9H165
|
|
gptkbp:bfsParent
|
gptkb:BCL11A
|
|
gptkbp:bfsLayer
|
7
|