BCL11A

BCL11A
Identifiants
Aliases	BCL11A, B-cell lymphoma/leukemia 11A
IDs externes	OMIM: 606557 MGI: 106190 HomoloGene: 11284 GeneCards: BCL11A
Position du gène (Homme)
Chr.	Chromosome 2 humain
Fin	60,554,467 bp
Position du gène (Souris)
Chr.	Chromosome 11 (souris)
Fin	24,174,123 bp
Expression génétique
	Fortement exprimé dans
	éminence ganglionnaire; ; primary visual cortex; ; Brodmann area 23; ; skin of hip; ; skin of thigh; ; gyrus temporal moyen; ; gyrus postcentral; ; Region I of hippocampus proper; ; ventricular zone; ; gyrus frontal supérieur;
	Fortement exprimé dans
	Rostral migratory stream; ; barrel cortex; ; éminence ganglionnaire; ; Cortex piriforme; ; gyrus précentral; ; Subiculum; ; medial ganglionic eminence; ; Tubercule olfactif; ; subdivision of hippocampus; ; Region I of hippocampus proper;
	Plus de données d'expression de référence
	; ; ; ;
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	protein homodimerization activity; liaison ion métal; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; liaison protéique; protein heterodimerization activity; Fixation d'acide nucléique; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity; protein kinase binding; sequence-specific DNA binding;
Composant cellulaire	cytoplasme; nucléoplasme; noyau; postsynaptic density;
Processus biologique	negative regulation of protein homooligomerization; negative regulation of neuron projection development; regulation of transcription, DNA-templated; regulation of dendrite development; negative regulation of transcription by RNA polymerase II; positive regulation of collateral sprouting; Sumoylation; transcription, DNA-templated; negative regulation of collateral sprouting; positive regulation of neuron projection development; negative regulation of axon extension; transduction de signal; positive regulation of transcription by RNA polymerase II; neurogenèse; negative regulation of dendrite development; positive regulation of gene expression; negative regulation of dendrite extension; negative regulation of neuron remodeling; cellular response to L-glutamate; negative regulation of branching morphogenesis of a nerve;
	Sources:Amigo / QuickGO
Orthologues
	53335
	14025
	ENSG00000119866
	ENSMUSG00000000861
	Q9H165
	Q9QYE3
NM_018014; NM_022893; NM_138553; NM_138559; NM_001363864;
	NM_001365609
	NM_001159289; NM_001159290; NM_001242934; NM_016707
	NP_060484; NP_075044; NP_612569; NP_001350793; NP_001352538
	NP_001152761; NP_001152762; NP_001229863; NP_057916
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le BCL11A (pour « B-cell lymphoma/leukemia 11A ») est un facteur de transcription dont le gène est BCL11A situé sur le chromosome 2 humain.

Rôles

Il augmente l'activité des Bcl-2, BCL2-xL et MDM2, et par ce biais, est un inhibiteur du P53^[5].

Il inhibe la production d'hémoglobine fœtale^[6] et stimule la prolifération des lymphocytes^[5] ainsi que des cellules dendritiques plasmacytoïdes^[7].

En médecine

La délétion du gène est responsable d'un syndrome associant la persistance d'un taux élevé d'hémoglobine fœtale ainsi que des troubles du spectre autistique.

Une mutation du gène est associée avec un risque plus important de schizophrénie^[8] ou de trouble du déficit de l'attention avec ou sans hyperactivité^[9].

L'inhibition du gène permet une augmentation de l'hémoglobine foetale et peut constituer ainsi une voie de traitement pour la drépanocytose^[10] ou la bêta-thalassémie^[11].

Voir aussi

BCL11B

Notes et références

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000119866 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000000861 - Ensembl, May 2017
↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ ^{a et b} Yu Y, Wang J, Khaled W et al. Bcl11a is essential for lymphoid development and negatively regulates p53, J Exp Med, 2012;209:2467–2483
↑ Sankaran VG, Menne TF, Xu J et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A, Science, 2008;322:1839–1842
↑ Ippolito GC, Dekker JD, Wang YH et al. Dendritic cell fate is determined by BCL11A, Proc Natl Acad Sci U S A, 2014;111:E998–E1006.
↑ Basak A, Hancarova M, Ulirsch JC et al. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations, J Clin Investig, 2015;125:2363-2368
↑ Hinney A, Scherag A, Jarick I et al. Genome-wide association study in German patients with attention deficit/hyperactivity disorder, Am J Med Gen et B Neuropsychiatr Genet, 2011;156B:888–897
↑ Esrick EB, Lehmann LE, Biffi A et al. Post-transcriptional genetic silencing of BCL11A to treat sickle cell disease, N Engl J Med, 2021;384:205-215
↑ Frangoul H, Altshuler D, Cappellini MD et al. CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia, N Engl J Med, 2021;384:252-260

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000119866 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000000861 - Ensembl, May 2017

[3] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[4] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[Yu_2012-5] {a et b} Yu Y, Wang J, Khaled W et al. Bcl11a is essential for lymphoid development and negatively regulates p53, J Exp Med, 2012;209:2467–2483

[Sankaran_2008-6] Sankaran VG, Menne TF, Xu J et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A, Science, 2008;322:1839–1842

[Ippolito_2014-7] Ippolito GC, Dekker JD, Wang YH et al. Dendritic cell fate is determined by BCL11A, Proc Natl Acad Sci U S A, 2014;111:E998–E1006.

[Basak_2015-8] Basak A, Hancarova M, Ulirsch JC et al. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations, J Clin Investig, 2015;125:2363-2368

[Hinney_2011-9] Hinney A, Scherag A, Jarick I et al. Genome-wide association study in German patients with attention deficit/hyperactivity disorder, Am J Med Gen et B Neuropsychiatr Genet, 2011;156B:888–897

[Esrick_2021-10] Esrick EB, Lehmann LE, Biffi A et al. Post-transcriptional genetic silencing of BCL11A to treat sickle cell disease, N Engl J Med, 2021;384:205-215

[Frangoul_2021-11] Frangoul H, Altshuler D, Cappellini MD et al. CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia, N Engl J Med, 2021;384:252-260

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