BCL11B

BCL11B
Identifiants
Aliases	BCL11B
IDs externes	OMIM: 606558 MGI: 1929913 HomoloGene: 10974 GeneCards: BCL11B
Position du gène (Homme)
Chr.	Chromosome 14 humain
Fin	99,272,197 bp
Position du gène (Souris)
Chr.	Chromosome 12 (souris)
Fin	107,969,861 bp
Expression génétique
	Fortement exprimé dans
	thymus; ; skin of thigh; ; mamelon; ; skin of hip; ; vulve; ; buccal mucosa cell; ; secondary oocyte; ; skin of arm; ; éminence ganglionnaire; ; gencive;
	Fortement exprimé dans
	dorsal striatum; ; Rostral migratory stream; ; medial ganglionic eminence; ; Region I of hippocampus proper; ; Tubercule olfactif; ; noyau accumbens; ; thymus; ; lobe temporal; ; globus pallidus; ; amygdale;
	Plus de données d'expression de référence
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; liaison ion métal; RNA polymerase II cis-regulatory region sequence-specific DNA binding; liaison protéique; Fixation d'acide nucléique; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity;
Composant cellulaire	intracellulaire; neuron projection; noyau;
Processus biologique	commitment of neuronal cell to specific neuron type in forebrain; regulation of neuron differentiation; neurogenèse; olfactory bulb axon guidance; regulation of transcription, DNA-templated; T cell differentiation in thymus; axonogenesis; epithelial cell morphogenesis; thymus development; T cell receptor V(D)J recombination; negative regulation of apoptotic process; transcription by RNA polymerase II; développement postembryonnaire; positive T cell selection; transcription, DNA-templated; striatal medium spiny neuron differentiation; odontogenesis of dentin-containing tooth; regulation of lipid metabolic process; keratinocyte development; post-embryonic camera-type eye development; central nervous system neuron differentiation; régulation de l'expression des gènes; alpha-beta T cell differentiation; regulation of keratinocyte proliferation; transduction de signal; negative regulation of cell population proliferation; positive regulation of transcription by RNA polymerase II; skin development; hematopoietic stem cell migration; lymphoid lineage cell migration into thymus;
	Sources:Amigo / QuickGO
Orthologues
	64919
	58208
	ENSG00000127152
	ENSMUSG00000048251
	Q9C0K0
	Q99PV8
	NM_001282237; NM_001282238; NM_022898; NM_138576
	NM_001079883; NM_001286343; NM_021399
	NP_001269166; NP_001269167; NP_075049; NP_612808
	NP_001073352; NP_001273272; NP_067374
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le BCL11B (pour « B-cell lymphoma/leukemia 11B ») est un facteur de transcription dont le gène est BCL11B situé sur le chromosome 14 humain.

Rôles

Il augmente l'expression de l'interleukine 2, active le NF-κB^[5]. Il a un rôle de répresseur de la transcription en association avec le complexe NuRD^[6].

En médecine

La mutation du gène provoque une alymphocytose congénitale^[7].

Dans la leucémie aiguë lymphoblastique, une mutation du gène est fréquemment retrouvée^[8].

Voir aussi

BCL11A

Notes et références

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000127152 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000048251 - 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
↑ Cismasiu VB, Duque J, Paskaleva E et al. BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes, Biochem J, 2009;417:457-466
↑ Cismasiu VB, Adamo K, Gecewicz J, Duque J, Lin Q, Avram D, BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter, Oncogene, 2005;24:6753-6764
↑ Punwani D, Zhang Y, Yu J et al. Multisystem anomalies in severe combined immunodeficiency with mutant BCL11B, N Engl J Med, 2016;375:2165-2176
↑ Gutierrez A, Kentsis A, Sanda T et al. The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia, Blood, 2011;118:4169-4173

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000127152 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000048251 - 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

[Cismasiu_2009-5] Cismasiu VB, Duque J, Paskaleva E et al. BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes, Biochem J, 2009;417:457-466

[Cismasiu_2005-6] Cismasiu VB, Adamo K, Gecewicz J, Duque J, Lin Q, Avram D, BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter, Oncogene, 2005;24:6753-6764

[Punwani_2016-7] Punwani D, Zhang Y, Yu J et al. Multisystem anomalies in severe combined immunodeficiency with mutant BCL11B, N Engl J Med, 2016;375:2165-2176

[Gutierrez_2011-8] Gutierrez A, Kentsis A, Sanda T et al. The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia, Blood, 2011;118:4169-4173

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]