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BCL11B BAF chromatin remodeling complex subunit BCL11B

Gene ID: 64919, updated on 5-Jan-2022
Gene type: protein coding
Also known as: ATL1; RIT1; CTIP2; IMD49; CTIP-2; IDDFSTA; SMARCM2; ZNF856B; ATL1-beta; ATL1-alpha; ATL1-delta; ATL1-gamma; hRIT1-alpha

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. [provided by RefSeq, Aug 2013]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium.
GeneReviews: Not available
Genetic variants near PDGFRA are associated with corneal curvature in Australians.
GeneReviews: Not available
Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.
GeneReviews: Not available
Immunodeficiency 49
MedGen: C4310656OMIM: 617237GeneReviews: Not available
See labs
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
MedGen: C4748152OMIM: 618092GeneReviews: Not available
See labs

Genomic context

Location:
14q32.2
Sequence:
Chromosome: 14; NC_000014.9 (99169287..99272197, complement)
Total number of exons:
4

Links

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