BCL11B Chromosome 14
BCL11 transcription factor B
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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|BAF complex subunits"
Locus Type
gene with protein product
Location
14q32.2
Ensembl
ENSG00000127152
Associated Conditions (10)
BCL11B-related disorder
Immunodeficiency 49
Intellectual developmental disorder with speech delay
dysmorphic facies
and t-cell abnormalities
Inborn genetic diseases
Microcephaly
See cases
Autism spectrum disorder
Combined immunodeficiency
Key Variants
RS1011254015
Conflicting classifications of pathogenicity
BCL11B-related disorder, BCL11B-related disorder
Health Risk
RS1035143185
Conflicting classifications of pathogenicity
Immunodeficiency 49, Intellectual developmental disorder with speech delay, dysmorphic facies
Health Risk
RS1200651928
Conflicting classifications of pathogenicity
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Health Risk
RS1252307867
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1277024568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1278493215
Conflicting classifications of pathogenicity
Health Risk
RS1347387231
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1407775325
Conflicting classifications of pathogenicity
Immunodeficiency 49, Intellectual developmental disorder with speech delay, dysmorphic facies
Health Risk
RS1440888810
Conflicting classifications of pathogenicity
Health Risk
RS1566794698
Conflicting classifications of pathogenicity
Health Risk
RS1886430140
Conflicting classifications of pathogenicity
Health Risk
RS1886516216
Conflicting classifications of pathogenicity
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555384301 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1595080787 | Health Risk | Pathogenic | — |
| RS1595214071 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS1595214545 | Health Risk | Pathogenic | — |
| RS1595214864 | Health Risk | Pathogenic | — |
| RS1595215462 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS1886396455 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS1886399419 | Health Risk | Pathogenic | — |
| RS1886445034 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS1886468876 | Health Risk | Pathogenic | — |
| RS1886475635 | Health Risk | Pathogenic | See cases, See cases |
| RS1886522103 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2139753037 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2139755728 | Health Risk | Pathogenic | — |
| RS2139755925 | Health Risk | Pathogenic | Immunodeficiency 49, Immunodeficiency 49 |
| RS2139757401 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2139759372 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2139953103 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2139953911 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2503635511 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2503636657 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2503641685 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2503648198 | Health Risk | Pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS2503652316 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS750610248 | Health Risk | Pathogenic | Combined immunodeficiency, Immunodeficiency 49, Combined immunodeficiency |
| RS1886427331 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139753299 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities |
| RS888230251 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 49, Intellectual developmental disorder with speech delay, dysmorphic facies |