Description: Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. RefSeq Summary (NM_022893): This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr2:60,684,329-60,780,633 Size: 96,305 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr2:60,687,539-60,780,405 Size: 92,867 Coding Exon Count: 4
ID:BC11A_HUMAN DESCRIPTION: RecName: Full=B-cell lymphoma/leukemia 11A; Short=BCL-11A; AltName: Full=B-cell CLL/lymphoma 11A; AltName: Full=COUP-TF-interacting protein 1; AltName: Full=Ecotropic viral integration site 9 protein homolog; Short=EVI-9; AltName: Full=Zinc finger protein 856; FUNCTION: Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. An essential factor in lymphopoiesis, is required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity). SUBUNIT: Interacts with TFCOUP1, PIAS3, ARP1 and EAR2 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Associates with the nuclear body. Colocalizes with SUMO1 and SENP2 in nuclear speckles (By similarity). TISSUE SPECIFICITY: Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development. PTM: Sumoylated with SUMO1 (By similarity). POLYMORPHISM: Genetic variation in BCL11A underlies the fetal hemoglobin quantitative trait locus 5 [MIM:142335]. It is associated with quantitative variation in the production of F cells, that is erythrocytes containing measurable amounts of fetal hemoglobin (HbF). In healthy adults, HbF is present at residual levels (less than 0.6% of total hemoglobin) with over twenty-fold variation. Ten to fifteen percent of adults in the upper tail of the distribution have HbF levels between 0.8% and 5.0%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin (hHPFH). Although these HbF levels are modest in otherwise healthy individuals, interaction of hHPFH with beta thalassemia or sickle cell disease can increase HbF output in these individuals to levels that are clinically beneficial. DISEASE: Note=Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification. SIMILARITY: Contains 6 C2H2-type zinc fingers. SEQUENCE CAUTION: Sequence=BAB47438.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL11AID391.html";
Attention Deficit Disorder with Hyperactivity Anke Hinney et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2011, Genome-wide association study in German patients with attention deficit/hyperactivity disorder., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic.
[PubMed 22012869]
Beta thalassemia/hemoglobin E disease Nuinoon ,et al. 2009, A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/hemoglobin E, Human genetics 2009 .
[PubMed 19924444]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H165
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003676 nucleic acid binding GO:0005515 protein binding GO:0042803 protein homodimerization activity GO:0046872 metal ion binding GO:0046982 protein heterodimerization activity
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007165 signal transduction GO:0010976 positive regulation of neuron projection development GO:0010977 negative regulation of neuron projection development GO:0016925 protein sumoylation GO:0022008 neurogenesis GO:0030517 negative regulation of axon extension GO:0032463 negative regulation of protein homooligomerization GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048671 negative regulation of collateral sprouting GO:0048672 positive regulation of collateral sprouting GO:0050773 regulation of dendrite development GO:2000171 negative regulation of dendrite development
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
