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 ... See more...

Aliases for BCL11A Gene

Aliases for BCL11A Gene

  • BAF Chromatin Remodeling Complex Subunit BCL11A 2 3 5
  • Ecotropic Viral Integration Site 9 Protein Homolog 3 4
  • BCL11A, BAF Complex Component 2 3
  • COUP-TF-Interacting Protein 1 3 4
  • B-Cell Lymphoma/Leukemia 11A 3 4
  • Zinc Finger Protein 856 3 4
  • B Cell CLL/Lymphoma 11A 2 3
  • ZNF856 3 4
  • CTIP1 3 4
  • EVI9 3 4
  • BCL11A B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) Isoform 1 3
  • B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) Isoform 2 3
  • B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) 2
  • Ecotropic Viral Integration Site 9 Homolog 3
  • Ecotropic Viral Integration Site 9 2
  • C2H2-Type Zinc Finger Protein 3
  • B-Cell CLL/Lymphoma 11A 4
  • BCL11A-XL 3
  • BCL11A-L 3
  • BCL11A-S 3
  • BCL11a-M 3
  • KIAA1809 4
  • HBFQTL5 3
  • BCL-11A 4
  • DILOS 3
  • EVI-9 4

External Ids for BCL11A Gene

Previous HGNC Symbols for BCL11A Gene

  • EVI9

Previous GeneCards Identifiers for BCL11A Gene

  • GC02M060806
  • GC02M060636
  • GC02M060652
  • GC02M060589
  • GC02M060531
  • GC02M060420
  • GC02M060678

Summaries for BCL11A Gene

Entrez Gene Summary for BCL11A Gene

  • 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]

GeneCards Summary for BCL11A Gene

BCL11A (BAF Chromatin Remodeling Complex Subunit BCL11A) is a Protein Coding gene. Diseases associated with BCL11A include Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin and Corpus Callosum, Agenesis Of. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is BCL11B.

UniProtKB/Swiss-Prot Summary for BCL11A Gene

  • Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).

Gene Wiki entry for BCL11A Gene

Additional gene information for BCL11A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL11A Gene

Genomics for BCL11A Gene

GeneHancer (GH) Regulatory Elements for BCL11A Gene


GeneHancers around BCL11A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCL11A gene promoter:
  • AREB6
  • CREB
  • deltaCREB

Genomic Locations for BCL11A Gene

Genomic Locations for BCL11A Gene
chr2:60,450,520-60,555,154
(GRCh38/hg38)
Size:
104,635 bases
Orientation:
Minus strand
chr2:60,678,302-60,780,702
(GRCh37/hg19)
Size:
102,401 bases
Orientation:
Minus strand

Genomic View for BCL11A Gene

Genes around BCL11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL11A Gene

Proteins for BCL11A Gene

  • Protein details for BCL11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H165-BC11A_HUMAN
    Recommended name:
    B-cell lymphoma/leukemia 11A
    Protein Accession:
    Q9H165
    Secondary Accessions:
    • D6W5D7
    • Q66LN6
    • Q86W14
    • Q8WU92
    • Q96JL6
    • Q9H163
    • Q9H164
    • Q9H3G9
    • Q9NWA7

    Protein attributes for BCL11A Gene

    Size:
    835 amino acids
    Molecular mass:
    91197 Da
    Quaternary structure:
    • Interacts with TFCOUP1, PIAS3, ARP1 and EAR2 (By similarity). Isoform 1, isoform 2 and isoform 3 form homodimers and heterodimers (PubMed:27453576). Isoform 2 interacts with TBR1 (PubMed:30250039).
    SequenceCaution:
    • Sequence=AAG49025.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305}; Sequence=BAB47438.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCL11A Gene

    Alternative splice isoforms for BCL11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL11A Gene

Post-translational modifications for BCL11A Gene

Antibody Products

  • Boster Bio Antibodies for BCL11A

No data available for DME Specific Peptides for BCL11A Gene

Domains & Families for BCL11A Gene

Gene Families for BCL11A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for BCL11A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCL11A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57865, highly similar to B-cell lymphoma/leukemia 11A (B4DT16_HUMAN)
  • Zinc finger protein 856 (BC11A_HUMAN)
  • BCL11A B-cell CLL/lymphoma 11A (Zinc finger protein) isoform 1 (D6W5D9_HUMAN)
  • B-cell CLL/lymphoma 11A (Zinc finger protein), isoform CRA_c (D9YZV9_HUMAN)
  • B-cell lymphoma/leukaemia 11A extra-short form (Q66LN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H165

UniProtKB/Swiss-Prot:

BC11A_HUMAN :
  • The N-terminus is involved in protein dimerization and in transactivation of transcription.
Domain:
  • The N-terminus is involved in protein dimerization and in transactivation of transcription.
  • The C-terminus of isoform 2 is necessary for isoform 2 interaction with TBR1.
genes like me logo Genes that share domains with BCL11A: view

Function for BCL11A Gene

Molecular function for BCL11A Gene

UniProtKB/Swiss-Prot Function:
Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level (PubMed:26375765). Involved in brain development (PubMed:27453576). Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).

Phenotypes From GWAS Catalog for BCL11A Gene

Gene Ontology (GO) - Molecular Function for BCL11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19153051
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 19153051
GO:0003676 nucleic acid binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
genes like me logo Genes that share ontologies with BCL11A: view
genes like me logo Genes that share phenotypes with BCL11A: view

Human Phenotype Ontology for BCL11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCL11A Gene

MGI Knock Outs for BCL11A:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BCL11A Gene

Localization for BCL11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL11A Gene

Cytoplasm. Nucleus. Note=Associates with the nuclear body. Colocalizes with SUMO1 and SENP2 in nuclear speckles (By similarity). {ECO:0000250}.
Isoform 2: Cytoplasm. Nucleus. Note=Predominantly localized in the nucleus in nuclear paraspeckles. {ECO:0000269 PubMed:27453576}.
Isoform 3: Cytoplasm. Nucleus. Note=Predominantly localized in the cytoplasm in the absence of interaction with isoform 1 and isoform 2. In presence of isoform 1 or isoform 2, translocates from the cytoplasm into nuclear paraspeckles. {ECO:0000269 PubMed:27453576}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCL11A gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCL11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with BCL11A: view

Pathways & Interactions for BCL11A Gene

PathCards logo

SuperPathways for BCL11A Gene

No Data Available

SIGNOR curated interactions for BCL11A Gene

Inactivates:

Gene Ontology (GO) - Biological Process for BCL11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 19153051
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0010628 positive regulation of gene expression IEA --
GO:0016925 protein sumoylation ISS --
GO:1903860 negative regulation of dendrite extension IEA --
genes like me logo Genes that share ontologies with BCL11A: view

No data available for Pathways by source for BCL11A Gene

Drugs & Compounds for BCL11A Gene

No Compound Related Data Available

Transcripts for BCL11A Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCL11A Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b · 11c
SP1: - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - - - -
SP6: - - -
SP7: - - -
SP8: - - - - - - - - - -
SP9:
SP10: - - - - -

Relevant External Links for BCL11A Gene

GeneLoc Exon Structure for
BCL11A
ECgene alternative splicing isoforms for
BCL11A

Expression for BCL11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCL11A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCL11A Gene

This gene is overexpressed in Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for BCL11A Gene

This gene is overexpressed in Lung (28.3), Fetal Brain (15.4), Heart (10.9), and Blymphocyte (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BCL11A Gene



Protein tissue co-expression partners for BCL11A Gene

NURSA nuclear receptor signaling pathways regulating expression of BCL11A Gene:

BCL11A

SOURCE GeneReport for Unigene cluster for BCL11A Gene:

Hs.370549

mRNA Expression by UniProt/SwissProt for BCL11A Gene:

Q9H165-BC11A_HUMAN
Tissue specificity: Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development.

Evidence on tissue expression from TISSUES for BCL11A Gene

  • Nervous system(4.6)
  • Blood(2.4)
  • Lymph node(2.1)
  • Bone marrow(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL11A Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
Regions:
Thorax:
  • thymus
Abdomen:
  • liver
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with BCL11A: view

Orthologs for BCL11A Gene

This gene was present in the common ancestor of animals.

Orthologs for BCL11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCL11A 33 32
  • 99.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BCL11A 33
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCL11A 33
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl11a 32
  • 96.81 (n)
mouse
(Mus musculus)
Mammalia Bcl11a 17 33 32
  • 96.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCL11A 33
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCL11A 33
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL11A 33 32
  • 86.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL11A 33
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl11a 32
  • 79.76 (n)
Str.15721 32
zebrafish
(Danio rerio)
Actinopterygii bcl11aa 33 32
  • 75.71 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12182 32
fruit fly
(Drosophila melanogaster)
Insecta CG9650 33
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F13H6.1 33
  • 16 (a)
OneToMany
Species where no ortholog for BCL11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCL11A Gene

ENSEMBL:
Gene Tree for BCL11A (if available)
TreeFam:
Gene Tree for BCL11A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL11A: view image

Paralogs for BCL11A Gene

(33) SIMAP similar genes for BCL11A Gene using alignment to 9 proteins:

  • BC11A_HUMAN
  • B4DT16_HUMAN
  • D6W5D9_HUMAN
  • D9YZV9_HUMAN
  • F5H2Y4_HUMAN
  • I3PG23_HUMAN
  • Q53TE8_HUMAN
  • Q53TS1_HUMAN
  • Q66LN6_HUMAN
genes like me logo Genes that share paralogs with BCL11A: view

Variants for BCL11A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for BCL11A Gene

BC11A_HUMAN-Q9H165
Genetic variation in BCL11A underlies the fetal hemoglobin quantitative trait locus 5 [MIM:142335]. It is associated with quantitative variation in the production of F cells, that is erythrocytes containing measurable amounts of fetal hemoglobin (HbF). In healthy adults, HbF is present at residual levels (less than 0.6% of total hemoglobin) with over twenty-fold variation. Ten to fifteen percent of adults in the upper tail of the distribution have HbF levels between 0.8% and 5.0%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin (hHPFH). Although these HbF levels are modest in otherwise healthy individuals, interaction of hHPFH with beta thalassemia or sickle cell disease can increase HbF output in these individuals to levels that are clinically beneficial.

Sequence variations from dbSNP and Humsavar for BCL11A Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs11886868 likely-pathogenic, Fetal hemoglobin quantitative trait locus 5 60,493,111(-) C/T intron_variant
rs1324772694 uncertain-significance, Inborn genetic diseases 60,468,820(-) G/A/C coding_sequence_variant, intron_variant, missense_variant, synonymous_variant
rs1553352926 pathogenic, Inborn genetic diseases 60,545,969(-) A/G splice_donor_variant
rs1553353022 likely-pathogenic, Intellectual developmental disorder with persistence of fetal hemoglobin 60,546,163(-) C/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs1553353092 likely-pathogenic, Inborn genetic diseases 60,546,301(-) C/G genic_upstream_transcript_variant, splice_acceptor_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BCL11A Gene

Variant ID Type Subtype PubMed ID
dgv243e215 CNV deletion 23714750
esv2544456 CNV deletion 19546169
esv2720123 CNV deletion 23290073
esv2720124 CNV deletion 23290073
esv2720125 CNV deletion 23290073
esv2720126 CNV deletion 23290073
esv28146 CNV gain 19812545
esv28277 CNV loss 19812545
nsv1116380 CNV deletion 24896259
nsv475384 CNV novel sequence insertion 20440878
nsv519105 CNV loss 19592680
nsv834204 CNV gain 17160897
nsv9924 CNV loss 18304495

Variation tolerance for BCL11A Gene

Residual Variation Intolerance Score: 3.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL11A Gene

Human Gene Mutation Database (HGMD)
BCL11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL11A

Disorders for BCL11A Gene

MalaCards: The human disease database

(17) MalaCards diseases for BCL11A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BC11A_HUMAN
  • Note=Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification. {ECO:0000269 PubMed:11719382}.
  • Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]: An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin. {ECO:0000269 PubMed:27453576, ECO:0000269 PubMed:30250039}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BCL11A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCL11A: view

No data available for Genatlas for BCL11A Gene

Publications for BCL11A Gene

  1. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. (PMID: 18245381) Uda M … Cao A (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 43 56
  2. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. (PMID: 17767159) Menzel S … Thein SL (Nature genetics 2007) 3 4 43 56
  3. Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells. (PMID: 16704730) Liu H … Tucker PW (Molecular cancer 2006) 3 4 23 56
  4. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. (PMID: 11719382) Satterwhite E … Dyer MJ (Blood 2001) 2 3 4 56
  5. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. (PMID: 27453576) Dias C … Logan DW (American journal of human genetics 2016) 3 4 56

Products for BCL11A Gene

Sources for BCL11A Gene