BAF Chromatin Remodeling Complex Subunit BCL11B

Alternative Names

  • BCL11B
  • B-Cell CLL/Lymphoma 11B
  • CTIP2, Mouse, Homolog Of
  • CTIP2
  • Radiation-Induced Tumor Suppressor Gene 1
  • RIT1
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OMIM Number

606558

NCBI Gene ID

64919

Uniprot ID

Q9C0K0

Length

102,911 bases

No. of Exons

5

No. of isoforms

2

Protein Name

B-cell lymphoma/leukemia 11B

Molecular Mass

95519 Da

Amino Acid Count

894

Genomic Location

chr14:99,169,287-99,272,197

Gene Map Locus
14q32.2

Description

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. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_138576.3:c.767G>AUnited Arab EmiratesNC_000014.9:g.99176069C>TNG_027894.1:g.100417G>A; NM_138576.3:c.767G>A; NP_612808.1:p.Ser256Asn
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