BCL11A gene

BAF chromatin remodeling complex subunit BCL11A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).

From NCBI Gene:

  • Intellectual developmental disorder with persistence of fetal hemoglobin

From UniProt:

Chromosomal aberrations involving BCL11A are associated with B-cell malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and overexpression.

Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH): An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin. [MIM:617101]

Cytogenetic Location: 2p16.1, which is the short (p) arm of chromosome 2 at position 16.1

Molecular Location: base pairs 60,450,520 to 60,553,654 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 2p16.1, which is the short (p) arm of chromosome 2 at position 16.1
  • BCL11A-L
  • BCL11a-M
  • BCL11A-S
  • BCL11A-XL
  • CTIP1
  • DILOS
  • EVI9
  • HBFQTL5
  • ZNF856