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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BCL11B
BCL11 transcription factor B
Chromosome 14 Β· 14q32.2
NCBI Gene: 64919Ensembl: ENSG00000127152.18HGNC: HGNC:13222UniProt: L8B567
114PubMed Papers
22Diseases
0Drugs
68Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingpositive regulation of transcription by RNA polymerase IIhematopoietic stem cell migrationSWI/SNF complexintellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalitiesimmunodeficiency 49genetic disorderschizophrenia
✦AI Summary

BCL11B is a transcription factor essential for T-lymphocyte development and function. It serves as a key regulator of thymocyte differentiation and survival, controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating CCR7 and CCR9 receptor expression 1. BCL11B enhances IL2 expression in activated CD4+ T-lymphocytes through IL2 promoter regulation 2. The protein functions as a transcriptional regulator in regulatory T cells (Tregs), with its promoter occupied by Treg-associated transcription factors including RUNX1, ETS1, and CREB 3. BCL11B plays a critical role in maintaining T cell identity by safeguarding against natural killer cell reprogramming through physical interaction with DNA methyltransferase DNMT1, which stabilizes BCL11B and maintains DNA methylation of NK cell-related genes 4. Clinically, BCL11B alterations are significant in hematologic malignancies, with BCL11B-activating rearrangements incorporated into early T-precursor acute lymphoblastic leukemia classification 5. BCL11B transcriptional deregulation defines a specific genetic subgroup of immature T-ALL 6, and BCL11B alterations represent a major entity in pediatric acute myeloid leukemia classification 7. The gene is associated with severe combined immunodeficiency and intellectual developmental disorders.

Sources cited
1
BCL11B controls hematopoietic stem cell responsiveness to chemotactic signals by modulating CCR7 and CCR9 expression
PMID: 27959755
2
BCL11B regulates IL2 promoter and enhances IL2 expression in activated CD4+ T-lymphocytes
PMID: 16809611
3
BCL11B promoter is occupied by Treg-associated transcription factors RUNX1, ETS1, and CREB
PMID: 33505023
4
BCL11B physically interacts with DNMT1 to maintain T cell identity by repressing NK cell-related genes
PMID: 40117344
5
BCL11B-activating rearrangements are incorporated into early T-precursor ALL classification
PMID: 36422706
6
BCL11B transcriptional deregulation identifies a specific genetic subgroup of immature T-ALL
PMID: 34440292
7
BCL11B represents a major molecular entity in pediatric acute myeloid leukemia classification
PMID: 38212634
Disease Associationsβ“˜22
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalitiesOpen Targets
0.79Strong
immunodeficiency 49Open Targets
0.69Moderate
genetic disorderOpen Targets
0.52Moderate
schizophreniaOpen Targets
0.50Moderate
bipolar disorderOpen Targets
0.47Moderate
mathematical abilityOpen Targets
0.45Moderate
smoking initiationOpen Targets
0.44Moderate
SnoringOpen Targets
0.44Moderate
obesityOpen Targets
0.43Moderate
restless legs syndromeOpen Targets
0.42Moderate
autism spectrum disorderOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
Intellectual disabilityOpen Targets
0.40Weak
dermatophytosisOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.39Weak
cellulitisOpen Targets
0.39Weak
abscessOpen Targets
0.39Weak
craniosynostosisOpen Targets
0.38Weak
colon adenocarcinomaOpen Targets
0.38Weak
Neurodevelopmental disorderOpen Targets
0.37Weak
Immunodeficiency 49, severe combinedUniProt
Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalitiesUniProt
Pathogenic Variants68
NM_138576.4(BCL11B):c.2472C>A (p.Tyr824Ter)Likely pathogenic
not provided|Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β˜…β˜…β˜†β˜†2025β†’ Residue 824
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs)Pathogenic
not provided|Inborn genetic diseases|Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β˜…β˜…β˜†β˜†2024β†’ Residue 649
NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs)Pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities|See cases|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 783
NM_138576.4(BCL11B):c.1887_1893del (p.Gly630fs)Pathogenic
not provided|Immunodeficiency 49
β˜…β˜…β˜†β˜†2023β†’ Residue 630
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)Pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities|Immunodeficiency 49
β˜…β˜…β˜†β˜†2022β†’ Residue 821
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)Pathogenic
Immunodeficiency 49|Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 807
NM_138576.4(BCL11B):c.997G>A (p.Glu333Lys)Likely pathogenic
BCL11B-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 333
NM_138576.4(BCL11B):c.2T>C (p.Met1Thr)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_138576.4(BCL11B):c.2577C>G (p.Cys859Trp)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 859
NM_138576.4(BCL11B):c.1478C>A (p.Ser493Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 493
NM_138576.4(BCL11B):c.2646_2649del (p.Asn884fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 884
NM_138576.4(BCL11B):c.2014_2023del (p.Lys672fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 672
NM_138576.4(BCL11B):c.1887_1893dup (p.Asp632fs)Likely pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 632
NM_138576.4(BCL11B):c.658_706del (p.Ser220fs)Pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 220
NM_138576.4(BCL11B):c.2422T>C (p.Cys808Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 808
NM_138576.4(BCL11B):c.2476T>C (p.Cys826Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 826
NM_138576.4(BCL11B):c.908del (p.Pro303fs)Likely pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 303
NM_138576.4(BCL11B):c.1460_1461insT (p.Ser488fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 488
NM_138576.4(BCL11B):c.2474dup (p.Cys826fs)Likely pathogenic
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 826
NM_138576.4(BCL11B):c.2403C>A (p.Cys801Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 801
View on ClinVar β†—
Related Genes
CHD3Protein interaction100%PHF10Protein interaction99%NR2F1Protein interaction99%HDAC2Protein interaction99%ARID2Protein interaction97%ACTL6AProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
10%
Lung
3%
Liver
2%
Ovary
1%
Heart
1%
Gene Interaction Network
Click a node to explore
BCL11BCHD3PHF10NR2F1HDAC2ARID2ACTL6A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9C0K0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.27 [0.17–0.46]
RankingsWhere BCL11B stands among ~20K protein-coding genes
  • #4,141of 20,598
    Most Researched114 Β· top quartile
  • #1,066of 5,498
    Most Pathogenic Variants68 Β· top quartile
  • #2,618of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedBCL11B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
International Consensus Classification of acute lymphoblastic leukemia/lymphoma.
PMID: 36422706
Virchows Arch Β· 2023
1.00
2
Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
PMID: 37120350
Semin Diagn Pathol Β· 2023
0.90
3
Classification of triple-negative breast cancers based on Immunogenomic profiling.
PMID: 30594216
J Exp Clin Cancer Res Β· 2018
0.80
4
The role of transcription factors in shaping regulatory T cell identity.
PMID: 37336954
Nat Rev Immunol Β· 2023
0.70
5
AIM2 in regulatory T cells restrains autoimmune diseases.
PMID: 33505023
Nature Β· 2021
0.60