BCL11A

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BCL11A
Identifiers
Aliases BCL11A, BCL11A-L, BCL11A-S, BCL11A-XL, BCL11a-M, CTIP1, EVI9, HBFQTL5, ZNF856, B-cell CLL/lymphoma 11A
External IDs MGI: 106190 HomoloGene: 11284 GeneCards: 53335
Genetically Related Diseases
Disease Name References
sickle-cell disease
attention deficit hyperactivity disorder
hemoglobin E disease
Beta-thalassemia
RNA expression pattern
PBB GE BCL11A 210347 s at tn.png

PBB GE BCL11A 219497 s at tn.png

PBB GE BCL11A 219498 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018014
NM_022893
NM_138553
NM_138559

NM_001159289
NM_001159290
NM_001242934
NM_016707

RefSeq (protein)

NP_060484.2
NP_075044.2
NP_612569.1

NP_001152761.1
NP_001152762.1
NP_001229863.1
NP_057916.1

Location (UCSC) Chr 2: 60.45 – 60.55 Mb Chr 11: 24.08 – 24.17 Mb
PubMed search [5] [6]
Wikidata
View/Edit Human View/Edit Mouse

B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.[7][8][9]

Function[edit]

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. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.[9]

In addition to the functions described above, BCL11A has been found to play a role in the suppression of fetal hemoglobin production. Therapeutic strategies aimed at increasing fetal globin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored.

Interactions[edit]

BCL11A has been shown to interact with COUP-TFI.[10]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_10923&geneId=282142". 
  2. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_1094&geneId=282142". 
  3. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_5379&geneId=282142". 
  4. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_12241&geneId=282142". 
  5. ^ "Human PubMed Reference:". 
  6. ^ "Mouse PubMed Reference:". 
  7. ^ Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ (November 2001). "The BCL11 gene family: involvement of BCL11A in lymphoid malignancies". Blood. 98 (12): 3413–20. doi:10.1182/blood.V98.12.3413. PMID 11719382. 
  8. ^ Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A (February 2008). "Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia". Proc. Natl. Acad. Sci. U.S.A. 105 (5): 1620–5. doi:10.1073/pnas.0711566105. PMC 2234194free to read. PMID 18245381. 
  9. ^ a b "Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)". 
  10. ^ Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". J. Biol. Chem. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356free to read. PMID 10744719. 

Further reading[edit]

External links[edit]

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