BCL11A Chromosome 2
BCL11 transcription factor A
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What This Gene Does
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|BAF complex subunits"
Locus Type
gene with protein product
Location
2p16.1
Ensembl
ENSG00000119866
Associated Conditions (17)
Dias-Logan syndrome
Inborn genetic diseases
Developmental disorder
BCL11A-related intellectual disability
BCL11A-related BAFopathy
Marfanoid habitus and intellectual disability
Intellectual disability
Neurodevelopmental delay
BCL11A-related disorder
Postaxial polydactyly
Delayed speech and language development
Global developmental delay
See cases
Cerebellar vermis hypoplasia
Corpus callosum
agenesis of
Congenital cerebellar hypoplasia
Key Variants
RS113307140
Conflicting classifications of pathogenicity
Dias-Logan syndrome, Dias-Logan syndrome
Health Risk
RS146235767
Conflicting classifications of pathogenicity
Dias-Logan syndrome, Inborn genetic diseases, Dias-Logan syndrome
Health Risk
RS1676277997
Conflicting classifications of pathogenicity
Developmental disorder, Inborn genetic diseases, Developmental disorder
Health Risk
RS2103836035
Conflicting classifications of pathogenicity
BCL11A-related intellectual disability, BCL11A-related intellectual disability
Health Risk
RS1249313093
Likely pathogenic
Health Risk
RS1382819519
Likely pathogenic
Dias-Logan syndrome, Dias-Logan syndrome
Health Risk
RS1446265434
Likely pathogenic
BCL11A-related BAFopathy, BCL11A-related BAFopathy
Health Risk
RS1489297664
Likely pathogenic
Dias-Logan syndrome, Dias-Logan syndrome
Health Risk
RS1553353022
Likely pathogenic
Dias-Logan syndrome, Marfanoid habitus and intellectual disability, Dias-Logan syndrome
Health Risk
RS1553403745
Likely pathogenic
Health Risk
RS1558519731
Likely pathogenic
Health Risk
RS1670493461
Likely pathogenic
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2104801226 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2104801406 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2466199331 | Health Risk | Pathogenic | — |
| RS2466223874 | Health Risk | Pathogenic | Global developmental delay, Global developmental delay |
| RS2466224624 | Health Risk | Pathogenic | — |
| RS2466227414 | Health Risk | Pathogenic | — |
| RS2466231694 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2466234128 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2466254913 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2466259921 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2467277992 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2467281469 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2467282984 | Health Risk | Pathogenic | — |
| RS2467357949 | Health Risk | Pathogenic | — |
| RS371309905 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS761909641 | Health Risk | Pathogenic | Inborn genetic diseases, Dias-Logan syndrome, Inborn genetic diseases |
| RS768799046 | Health Risk | Pathogenic | Dias-Logan syndrome, Neurodevelopmental delay, See cases |
| RS770356174 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS886037864 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS886037865 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS886037866 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS886037867 | Health Risk | Pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS1558519119 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar vermis hypoplasia, Corpus callosum, agenesis of |
| RS1558612412 | Health Risk | Pathogenic/Likely pathogenic | Dias-Logan syndrome, Congenital cerebellar hypoplasia, Dias-Logan syndrome |
| RS1573109761 | Health Risk | Pathogenic/Likely pathogenic | Dias-Logan syndrome, Neurodevelopmental delay, Dias-Logan syndrome |
| RS1670131098 | Health Risk | Pathogenic/Likely pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |
| RS2103850595 | Health Risk | Pathogenic/Likely pathogenic | Dias-Logan syndrome, Dias-Logan syndrome |