| Symbol
| BCL11A
| contributors: mct/pgu - updated : 27-05-2018
|
| HGNC name
| B-cell CLL/lymphoma 11A (zinc finger protein)
|
| HGNC id
| 13221
|
| corresponding disease(s)
|
IDFH
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
| fusion
|
|
|
| |
fused with REL in B cell lymphoma in t(2;14) (p13;q32.3) | | tumoral
|
|
| --over
|
| |
in leukemia through inhibition of monocyte differentiation | | constitutional
|
|
| --low
|
|
in primary adult erythroid cells leads to robust HbF expression  | |
| Susceptibility
|
to persistance of fetal hemoglobin |
| Variant & Polymorphism
SNP
, other
| QTL influencing the risk of fetal hemoglobin |
|
variants, by modulating HbF levels, act as an important ameliorating factor of the beta-thalassemia phenotype, and it is likely they could help ameliorate other hemoglobin disorders |
|
polymorphisms or SNP associated with fetal hemoglobin levels and pain crises in sickle cell disease |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| blood | hemoglobin | | |
| therapeutic target for reactivation of HbF in beta-hemoglobin disorders | | neurology | acquired | | |
| potential therapeutic target for the treatment of peripheral nerve injury |
| | | |
|
| Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype |