BCL11B

Chr 14AD

BCL11 transcription factor B

Also known as: ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IDDFSTA

NCBI Gene: 64919 ENSG00000127152 UniProt: Q9C0K0 OMIM: 606558

The protein encoded by this gene is a transcriptional repressor containing C2H2-type zinc fingers that regulates gene expression through chromatin remodeling complexes. Mutations cause autosomal dominant intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, as well as severe combined immunodeficiency (SCID). The pathogenic mechanism involves loss of function, leading to disrupted transcriptional regulation critical for both neurodevelopment and T-cell function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 49, severe combinedMIM #617237

Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalitiesMIM #618092

Clinical highlights

Gene-disease validity (ClinGen)

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.28

LOEUF· LoF intol.

LOF

Mechanism· G2P