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FLASH GENE
Symbol BCL11A contributors: mct/pgu - updated : 27-05-2018
HGNC name B-cell CLL/lymphoma 11A (zinc finger protein)
HGNC id 13221
ASSOCIATED DISORDERS
corresponding disease(s) IDFH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    bloodhemoglobin 
    therapeutic target for reactivation of HbF in beta-hemoglobin disorders
    neurologyacquired 
    potential therapeutic target for the treatment of peripheral nerve injury
    ANIMAL & CELL MODELS
  • Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype