|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alsoKnownAs
|
gptkb:BCL11A
|
|
gptkbp:associatedWith
|
gptkb:beta-thalassemia
leukemia
sickle cell disease
|
|
gptkbp:discoveredBy
|
S. Sankaran et al.
|
|
gptkbp:domain
|
gptkb:C2H2-type_zinc_finger
|
|
gptkbp:encodedBy
|
BCL11A gene
|
|
gptkbp:Entrez_Gene_ID
|
53335
ENSG00000119866
|
|
gptkbp:expressedIn
|
brain
hematopoietic tissues
|
|
gptkbp:firstDescribed
|
2002
|
|
gptkbp:function
|
transcription factor
regulation of gene expression
|
|
gptkbp:gene
|
gptkb:BCL11A
|
|
gptkbp:HGNC_ID
|
HGNC:1056
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CTIP3
|
|
gptkbp:involvedIn
|
B-cell development
hematopoiesis
erythroid cell development
|
|
gptkbp:length
|
835 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2p16.1
|
|
gptkbp:molecularWeight
|
98 kDa
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
immunodeficiency
|
|
gptkbp:OMIM
|
606557
|
|
gptkbp:orthologInMouse
|
gptkb:Bcl11a
|
|
gptkbp:regulates
|
gptkb:gamma-globin_gene
fetal hemoglobin expression
|
|
gptkbp:UniProtID
|
gptkb:Q9H165
|
|
gptkbp:bfsParent
|
gptkb:CETIP
|
|
gptkbp:bfsLayer
|
8
|