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Aliases for BCL11A Gene

Aliases for BCL11A Gene

  • B-Cell CLL/Lymphoma 11A 2 3 4
  • Ecotropic Viral Integration Site 9 Protein Homolog 3 4
  • B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) 2 5
  • COUP-TF-Interacting Protein 1 3 4
  • Zinc Finger Protein 856 3 4
  • BCL-11A 3 4
  • ZNF856 3 4
  • CTIP1 3 4
  • EVI-9 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
  • Ecotropic Viral Integration Site 9 Homolog 3
  • Ecotropic Viral Integration Site 9 2
  • C2H2-Type Zinc Finger Protein 3
  • BCL11A-XL 3
  • BCL11A-L 3
  • BCL11A-S 3
  • BCL11a-M 3
  • KIAA1809 4
  • HBFQTL5 3

External Ids for BCL11A Gene

Previous HGNC Symbols for BCL11A Gene

  • EVI9

Previous GeneCards Identifiers for BCL11A Gene

  • GC02M060806
  • GC02M060636
  • GC02M060652
  • GC02M060589
  • GC02M060531
  • 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 (B-Cell CLL/Lymphoma 11A) is a Protein Coding gene. Diseases associated with BCL11A include lymphoma and sickle cell disease. GO annotations related to this gene include protein homodimerization activity and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is ZNF296.

UniProtKB/Swiss-Prot for BCL11A Gene

  • Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. An essential factor in lymphopoiesis, is 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL11A Gene

Genomics for BCL11A Gene

Regulatory Elements for BCL11A Gene

Enhancers for BCL11A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BCL11A on UCSC Golden Path with GeneCards custom track

Promoters for BCL11A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCL11A on UCSC Golden Path with GeneCards custom track

Genomic Location for BCL11A Gene

Chromosome:
2
Start:
60,451,167 bp from pter
End:
60,553,567 bp from pter
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
    • 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.
    SequenceCaution:
    • Sequence=BAB47438.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BCL11A Gene

neXtProt entry for BCL11A Gene

Proteomics data for BCL11A Gene at MOPED

Post-translational modifications for BCL11A Gene

Antibody Products

No data available for DME Specific Peptides for BCL11A Gene

Domains & Families for BCL11A Gene

Gene Families for BCL11A Gene

Protein Domains for BCL11A Gene

Graphical View of Domain Structure for InterPro Entry

Q9H165

UniProtKB/Swiss-Prot:

BC11A_HUMAN :
  • Contains 6 C2H2-type zinc fingers.
Similarity:
  • Contains 6 C2H2-type zinc fingers.
genes like me logo Genes that share domains with BCL11A: view

Function for BCL11A Gene

Molecular function for BCL11A Gene

UniProtKB/Swiss-Prot Function:
Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. An essential factor in lymphopoiesis, is required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).

Gene Ontology (GO) - Molecular Function for BCL11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity TAS 19616629
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCL11A Gene COMPARTMENTS Subcellular localization image for BCL11A gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for BCL11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 19616629
genes like me logo Genes that share ontologies with BCL11A: view

Pathways & Interactions for BCL11A Gene

SuperPathways for BCL11A Gene

No Data Available

Gene Ontology (GO) - Biological Process for BCL11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0007165 signal transduction IBA --
GO:0010977 negative regulation of neuron projection development IDA 19616629
GO:0030517 negative regulation of axon extension ISS 19616629
GO:0032463 negative regulation of protein homooligomerization IC 19616629
genes like me logo Genes that share ontologies with BCL11A: view

No data available for Pathways by source and SIGNOR curated interactions for BCL11A Gene

Drugs & Compounds for BCL11A Gene

No Compound Related Data Available

Transcripts for BCL11A Gene

Unigene Clusters for BCL11A Gene

B-cell CLL/lymphoma 11A (zinc finger protein):
Representative Sequences:

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 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, PaxDb, and MOPED for BCL11A Gene



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.
genes like me logo Genes that share expression patterns with BCL11A: view

Protein tissue co-expression partners for BCL11A Gene

Primer Products

In Situ Assay Products

Orthologs for BCL11A Gene

This gene was present in the common ancestor of animals.

Orthologs for BCL11A Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Bcl11a 35
  • 96.65 (n)
  • 99.52 (a)
Bcl11a 16
Bcl11a 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BCL11A 35
  • 99.82 (n)
  • 99.87 (a)
BCL11A 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl11a 35
  • 96.81 (n)
  • 99.28 (a)
cow
(Bos Taurus)
Mammalia BCL11A 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCL11A 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCL11A 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL11A 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL11A 35
  • 86.89 (n)
  • 96.11 (a)
BCL11A 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL11A 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl11a 35
  • 79.76 (n)
  • 91.94 (a)
Str.15721 35
zebrafish
(Danio rerio)
Actinopterygii bcl11aa 35
  • 75.71 (n)
  • 82.76 (a)
bcl11aa 36
  • 77 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12182 35
fruit fly
(Drosophila melanogaster)
Insecta CG9650 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F13H6.1 36
  • 16 (a)
OneToMany
Species with no ortholog for BCL11A:
  • 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)

Paralogs for BCL11A Gene

Paralogs for BCL11A Gene

genes like me logo Genes that share paralogs with BCL11A: view

Variants for BCL11A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for BCL11A Gene

Q9H165-BC11A_HUMAN
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 Sequence Context AA Info Type
VAR_035553 A breast cancer sample
rs356976 -- 60,521,810(-) TGGTG(A/G)GGGTC intron-variant
rs356977 -- 60,521,623(-) TTCCC(C/T)TTAAG intron-variant
rs356978 -- 60,521,095(-) gtgtg(A/T)gtgtg intron-variant
rs356979 -- 60,520,608(-) GCAAA(A/G)CAGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834204 CNV Gain 17160897
esv2544456 CNV Deletion 19546169
esv2720123 CNV Deletion 23290073
esv2720124 CNV Deletion 23290073
nsv519105 CNV Loss 19592680
esv2720125 CNV Deletion 23290073
esv28146 CNV Gain 19812545
esv2720126 CNV Deletion 23290073
nsv9924 CNV Loss 18304495
esv28277 CNV Loss 19812545

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)

Relevant External Links for BCL11A Gene

HapMap Linkage Disequilibrium report
BCL11A
Human Gene Mutation Database (HGMD)
BCL11A

Disorders for BCL11A Gene

MalaCards: The human disease database

(11) MalaCards diseases for BCL11A Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lymphoma
  • lymphoid cancer
sickle cell disease
  • hemoglobin s disease
sickle cell anemia
  • drepanocytosis
thalassemia
  • sickle-cell thalassemia with crisis
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
  • hpfh-sickle cell disease syndrome
- 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}.

Relevant External Links for BCL11A

Genetic Association Database (GAD)
BCL11A
Human Genome Epidemiology (HuGE) Navigator
BCL11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCL11A
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. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3 48 67
  2. BCL11A is a SUMOylated protein and recruits SUMO-conjugation enzymes in its nuclear body. (PMID: 18681895) Kuwata T. … Nakamura T. (Genes Cells 2008) 3 23
  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 P.W. (Mol. Cancer 2006) 3 23
  4. Gains of the proto-oncogene BCL11A and nuclear accumulation of BCL11A(XL) protein are frequent in primary mediastinal B-cell lymphoma. (PMID: 16871282) Weniger M.A. … Barth T.F. (Leukemia 2006) 3 23
  5. Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma. (PMID: 11830502) MartA-n-Subero J.I. … Siebert R. (Blood 2002) 3 23

Products for BCL11A Gene

Sources for BCL11A Gene

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