BCL11B

BCL11B
Identifiers
Aliases	BCL11B, ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, RIT1, ZNF856B, hRIT1-alpha, B-cell CLL/lymphoma 11B, IMD49, B cell CLL/lymphoma 11B, IDDFSTA, BAF complex component, BAF chromatin remodeling complex subunit SMARCM2
External IDs	OMIM: 606558; MGI: 1929913; HomoloGene: 10974; GeneCards: BCL11B; OMA:BCL11B - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.2 Start 99,169,287 bp[1] End 99,272,197 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 F1|12 59.1 cM Start 107,876,662 bp[2] End 107,969,861 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus skin of thigh nipple skin of hip vulva buccal mucosa cell secondary oocyte skin of arm ganglionic eminence gums Top expressed in dorsal striatum Rostral migratory stream medial ganglionic eminence Region I of hippocampus proper olfactory tubercle nucleus accumbens thymus temporal lobe globus pallidus amygdala More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component intracellular anatomical structure neuron projection nucleus Biological process commitment of neuronal cell to specific neuron type in forebrain regulation of neuron differentiation neurogenesis 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 post-embryonic development 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 regulation of gene expression alpha-beta T cell differentiation regulation of keratinocyte proliferation signal transduction 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
Orthologs Species Human Mouse Entrez 64919 58208 Ensembl ENSG00000127152 ENSMUSG00000048251 UniProt Q9C0K0 Q99PV8 RefSeq (mRNA) NM_001282237 NM_001282238 NM_022898 NM_138576 NM_001079883 NM_001286343 NM_021399 RefSeq (protein) NP_001269166 NP_001269167 NP_075049 NP_612808 NP_001073352 NP_001273272 NP_067374 Location (UCSC) Chr 14: 99.17 – 99.27 Mb Chr 12: 107.88 – 107.97 Mb PubMed search [3] [4]
Wikidata
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B-cell lymphoma/leukemia 11B is a protein that in humans is encoded by the BCL11B gene.^[5][6][7]

BCL11B is located on human chromosome 14p32.2.^[8] The mouse analogue is called Rit1 or Bcl11b and is located on mouse chromosome 12.^[9]

This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. The specific function of this gene has not yet been determined, but it could also be involved in some malignancies. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported.^[7]

Research suggests that BCL11B is crucial for ameloblasts (the cells that produce tooth enamel) to form and work properly.^[10]

BCL11B has been shown to interact with COUP-TFI.^[11]

BCL11B is closely connected with immune regulation and for so its mutation can lead to a SCID phenotype. This so-called Immunodeficiency 49 (OMIM #617237) is classified as T-B+NK+ SCID.^[12] It is characterised by a lack of T lymphocytes and its malfunctioning specifically in proliferative response. On the other hand, B cells and NK cells counts and functions are not impaired.^[13] The symptoms of SCID caused by BCL11B mutation - apart from immunity defects - typically include teeth abnormalities, craniofacial dimorphism, different types of dermatitis. As well the intellectual development is significantly impaired. The disease has a very early onset and the only known treatment is hematopoietic stem cell transplantation from a healthy donor.^[14][13] The immunodeficiency has a dominant negative mode of inheritance as all so far described patients with it has been after sequencing identified as heterozygotes in the BCL11B gene.^[13][14]

A mouse model based study showed, that Bcl11b also plays an important role in pathogenesis of inflammatory bowel disease. Bcl11b gene knock-out in certain T cell population led to development of IBD. The mechanisms behind are supposed to be reduced suppressor activity of T regulatory cells and changes in cytokine environment. Bcl11b is suspected to interact with Foxp3 and IL10 gene promoters and thus impair its suppressive function in the intestines.^[15]

Bcl11b (mouse analogue of human BCL11B) has been proven to contribute to malignant growth for example in case of mouse lymphomas. That is suspected to be caused by interaction with p53, a well-known tumor suppressor gene.^[9]

• BCL11B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ATL1 genome location and ATL1 gene details page in the UCSC Genome Browser.
• Human BCL11B genome location and BCL11B gene details page in the UCSC Genome Browser.
• Human RIT1 genome location and RIT1 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

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