Home > Gene Browser > BCL11B

BCL11B

Synonyms
ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IDDFSTA, IMD49, RIT1, ZNF856B, hRIT1-alpha
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
747
Likely benign
3,644
Benign
461

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on BCL11B gene.

Phenotype class
Patients in 3billion (%)

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