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    BCL11A BCL11 transcription factor A [ Homo sapiens (human) ]

    Gene ID: 53335, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BCL11Aprovided by HGNC
    Official Full Name
    BCL11 transcription factor Aprovided by HGNC
    Primary source
    HGNC:HGNC:13221
    See related
    Ensembl:ENSG00000119866 MIM:606557; AllianceGenome:HGNC:13221
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EVI9; CTIP1; DILOS; ZNF856; HBFQTL5; SMARCM1
    Summary
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Broad expression in skin (RPKM 2.8), lymph node (RPKM 2.2) and 17 other tissues See more
    Orthologs
    mouse all
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    Try the new Transcript table

    Genomic context

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    See BCL11A in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (60450520..60553924, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (60456325..60559762, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (60677655..60781059, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724142 Neighboring gene uncharacterized LOC124906010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15808 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:60680131-60681128 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:60703617-60704430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:60708187-60708687 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:60711909-60712410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:60712411-60712910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:60720541-60721042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:60721043-60721542 Neighboring gene NANOG hESC enhancer GRCh37_chr2:60724096-60724705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:60758966-60759525 Neighboring gene VISTA enhancer hs957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:60776677-60777449 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:60777450-60778222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11517 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:60782673-60783281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11518 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:60809095-60809244 Neighboring gene VISTA enhancer hs1142 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:60860521-60861233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11519 Neighboring gene RNA, 7SL, cytoplasmic 361, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15816 Neighboring gene IFITM3 pseudogene 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Knock-down of BCL11A expression in breast cancer cells promotes MDA-MB-231 cell apoptosis]. Li H, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2016 Nov. PMID 27774950
    2. Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus. Jawaid K, et al. Blood Cells Mol Dis, 2010 Aug 15. PMID 20542454
    3. BCL11A gene over-expression in high risk neuroblastoma. Sultan I, et al. Cancer Genet, 2020 Jun. PMID 32113148
    4. BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases. Yin J, et al. Biosci Rep, 2019 Nov 29. PMID 31654056, Free PMC Article
    5. BCL11A-Related Intellectual Disability. Adam MP, et al. , 1993. PMID 31556984

    See all (188) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.
      Title: Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.
    2. let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.
      Title: let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.
    3. Effects of Mithramycin on BCL11A Gene Expression and on the Interaction of the BCL11A Transcriptional Complex to gamma-Globin Gene Promoter Sequences.
      Title: Effects of Mithramycin on BCL11A Gene Expression and on the Interaction of the BCL11A Transcriptional Complex to γ-Globin Gene Promoter Sequences.
    4. RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines.
      Title: RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines.
    5. [Genetic analysis of a family with BCL11A-related intellectual disability].
      Title: [Genetic analysis of a family with BCL11A-related intellectual disability].
    6. Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia.
      Title: Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia.
    7. Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.
      Title: Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.
    8. Bcl11a and the Correlated Key Genes Ascribable to Globin Switching: An In-silico Study.
      Title: Bcl11a and the Correlated Key Genes Ascribable to Globin Switching: An In-silico Study.
    9. BCL11A Facilitates Cell Proliferation and Metastasis in Neuroblastoma via Regulating the PI3K/Akt Signaling Pathway.
      Title: BCL11A Facilitates Cell Proliferation and Metastasis in Neuroblastoma via Regulating the PI3K/Akt Signaling Pathway.
    10. MicroRNA-92a-3p-mediated inhibition of BCL11A upregulates gamma-globin expression and inhibits oxidative stress and apoptosis in erythroid precursor cells.
      Title: MicroRNA-92a-3p-mediated inhibition of BCL11A upregulates γ-globin expression and inhibits oxidative stress and apoptosis in erythroid precursor cells.
    Submit: New GeneRIF Correction See all GeneRIFs (126)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dias-Logan syndrome
    MedGen: C4310833 OMIM: 617101 GeneReviews: BCL11A-Related Intellectual Disability
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2017-04-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2017-04-13)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    EBI GWAS Catalog
    A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
    EBI GWAS Catalog
    Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
    EBI GWAS Catalog
    Genetic and clinical correlates of early-outgrowth colony-forming units.
    EBI GWAS Catalog
    Genetic determinants of haemolysis in sickle cell anaemia.
    EBI GWAS Catalog
    Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
    EBI GWAS Catalog
    Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide association study in German patients with attention deficit/hyperactivity disorder.
    EBI GWAS Catalog
    Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
    EBI GWAS Catalog
    Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog
    The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of B-cell CLL/lymphoma 11A (zinc finger protein, BCL11A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10173, FLJ34997, KIAA1809

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription coregulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription regulatory region nucleic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of branching morphogenesis of a nerve IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of collateral sprouting IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of dendrite development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of dendrite extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of neuron remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein homooligomerization IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of collateral sprouting IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein sumoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SWI/SNF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in paraspeckles IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    B-cell lymphoma/leukemia 11A
    Names
    B cell CLL/lymphoma 11A
    B-cell CLL/lymphoma 11A (zinc finger protein)
    BAF chromatin remodeling complex subunit BCL11A
    BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
    BCL11A, BAF complex component
    C2H2-type zinc finger protein
    COUP-TF-interacting protein 1
    ecotropic viral integration site 9 homolog
    ecotropic viral integration site 9 protein homolog
    zinc finger protein 856

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011968.1 RefSeqGene

      Range
      4845..101305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363864.1 → NP_001350793.1  B-cell lymphoma/leukemia 11A isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region and 3' UTR, compared to variant 1. It encodes an isoform (4) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC007381, AC009970
      Consensus CDS
      CCDS86845.1
      UniProtKB/TrEMBL
      A0A2U3TZJ5, B4DMK8
      Related
      ENSP00000351307.5, ENST00000358510.6
      Conserved Domains (4) summary
      sd00017
      Location:345 → 365
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:710 → 730
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:709 → 730
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:357 → 382
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001365609.1 → NP_001352538.1  B-cell lymphoma/leukemia 11A isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC007381, AF080216, AJ404611, AY228763
      Consensus CDS
      CCDS92761.1
      UniProtKB/TrEMBL
      B4DMK8
      Related
      ENSP00000338774.7, ENST00000335712.11
      Conserved Domains (3) summary
      sd00017
      Location:710 → 730
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:709 → 730
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:357 → 382
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001405708.1 → NP_001392637.1  B-cell lymphoma/leukemia 11A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      UniProtKB/Swiss-Prot
      D6W5D7, Q66LN6, Q86W14, Q8WU92, Q96JL6, Q9H163, Q9H164, Q9H165, Q9H3G9, Q9NWA7
      UniProtKB/TrEMBL
      D6W5D9, D9YZW0

    4. NM_001405709.1 → NP_001392638.1  B-cell lymphoma/leukemia 11A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      UniProtKB/Swiss-Prot
      D6W5D7, Q66LN6, Q86W14, Q8WU92, Q96JL6, Q9H163, Q9H164, Q9H165, Q9H3G9, Q9NWA7
      UniProtKB/TrEMBL
      D6W5D9, D9YZW0

    5. NM_001405710.1 → NP_001392639.1  B-cell lymphoma/leukemia 11A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    6. NM_001405711.1 → NP_001392640.1  B-cell lymphoma/leukemia 11A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    7. NM_001405712.1 → NP_001392641.1  B-cell lymphoma/leukemia 11A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    8. NM_001405713.1 → NP_001392642.1  B-cell lymphoma/leukemia 11A isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    9. NM_001405714.1 → NP_001392643.1  B-cell lymphoma/leukemia 11A isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    10. NM_001405715.1 → NP_001392644.1  B-cell lymphoma/leukemia 11A isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    11. NM_001405716.1 → NP_001392645.1  B-cell lymphoma/leukemia 11A isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    12. NM_001405717.1 → NP_001392646.1  B-cell lymphoma/leukemia 11A isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    13. NM_001405718.1 → NP_001392647.1  B-cell lymphoma/leukemia 11A isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    14. NM_001405719.1 → NP_001392648.1  B-cell lymphoma/leukemia 11A isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    15. NM_001405720.1 → NP_001392649.1  B-cell lymphoma/leukemia 11A isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    16. NM_001405721.1 → NP_001392650.1  B-cell lymphoma/leukemia 11A isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    17. NM_001405722.1 → NP_001392651.1  B-cell lymphoma/leukemia 11A isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    18. NM_001405723.1 → NP_001392652.1  B-cell lymphoma/leukemia 11A isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    19. NM_001405724.1 → NP_001392653.1  B-cell lymphoma/leukemia 11A isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    20. NM_001405725.1 → NP_001392654.1  B-cell lymphoma/leukemia 11A isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      Conserved Domains (3) summary
      sd00017
      Location:592 → 612
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591 → 612
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:239 → 264
      zf-H2C2_2; Zinc-finger double domain

    21. NM_001405726.1 → NP_001392655.1  B-cell lymphoma/leukemia 11A isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      Conserved Domains (3) summary
      sd00017
      Location:592 → 612
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591 → 612
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:239 → 264
      zf-H2C2_2; Zinc-finger double domain

    22. NM_001405727.1 → NP_001392656.1  B-cell lymphoma/leukemia 11A isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      Conserved Domains (3) summary
      sd00017
      Location:592 → 612
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591 → 612
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:239 → 264
      zf-H2C2_2; Zinc-finger double domain

    23. NM_001405728.1 → NP_001392657.1  B-cell lymphoma/leukemia 11A isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      Conserved Domains (3) summary
      sd00017
      Location:592 → 612
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591 → 612
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:239 → 264
      zf-H2C2_2; Zinc-finger double domain

    24. NM_001405729.1 → NP_001392658.1  B-cell lymphoma/leukemia 11A isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    25. NM_001405730.1 → NP_001392659.1  B-cell lymphoma/leukemia 11A isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    26. NM_001405731.1 → NP_001392660.1  B-cell lymphoma/leukemia 11A isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      UniProtKB/TrEMBL
      B4DT16

    27. NM_001405732.1 → NP_001392661.1  B-cell lymphoma/leukemia 11A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      Related
      ENSP00000488390.2, ENST00000489516.7

    28. NM_001405733.1 → NP_001392662.1  B-cell lymphoma/leukemia 11A isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970
      UniProtKB/TrEMBL
      A0A2R8Y2E8
      Related
      ENSP00000493484.1, ENST00000642439.1

    29. NM_001405734.1 → NP_001392663.1  B-cell lymphoma/leukemia 11A isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    30. NM_001405735.1 → NP_001392664.1  B-cell lymphoma/leukemia 11A isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    31. NM_001405736.1 → NP_001392665.1  B-cell lymphoma/leukemia 11A isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    32. NM_018014.4 → NP_060484.2  B-cell lymphoma/leukemia 11A isoform 2

      See identical proteins and their annotated locations for NP_060484.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is also known as B-cell lymphoma/leukaemia 11A long form (BCL11A-L). It has a different 3' end coding and UTR region when compared to variant 1, and thus encodes an isoform (2) that contains a different and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC007381, AC009970, AF080216, AJ404611, AJ404612, BC021098
      Consensus CDS
      CCDS1861.1
      UniProtKB/TrEMBL
      B3KNX8, D9YZV9
      Related
      ENSP00000349300.4, ENST00000356842.9
      Conserved Domains (3) summary
      sd00017
      Location:379 → 399
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:378 → 399
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:391 → 416
      zf-H2C2_2; Zinc-finger double domain

    33. NM_022893.4 → NP_075044.2  B-cell lymphoma/leukemia 11A isoform 1

      See identical proteins and their annotated locations for NP_075044.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is also known as B-cell lymphoma/leukaemia 11A extra long form (BCL11A-XL). It encodes the longest isoform (1).
      Source sequence(s)
      AB058712, AC009970, AF080216, AJ404611, AK001035, BG393787
      Consensus CDS
      CCDS1862.1
      UniProtKB/Swiss-Prot
      D6W5D7, Q66LN6, Q86W14, Q8WU92, Q96JL6, Q9H163, Q9H164, Q9H165, Q9H3G9, Q9NWA7
      UniProtKB/TrEMBL
      B3KNX8, D6W5D9, D9YZW0
      Related
      ENSP00000496168.1, ENST00000642384.2
      Conserved Domains (3) summary
      sd00017
      Location:744 → 764
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:743 → 764
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:391 → 416
      zf-H2C2_2; Zinc-finger double domain

    34. NM_138559.2 → NP_612569.1  B-cell lymphoma/leukemia 11A isoform 3

      See identical proteins and their annotated locations for NP_612569.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is also known as B-cell lymphoma/leukaemia 11A short form (BCL11A-S). It lacks a large portion of the 3' coding region which introduces a frameshift, and it contains a different 3' UTR region when compared to variant 1. The encoded isoform (3) has a truncated and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC007381, AC009970
      Consensus CDS
      CCDS46295.1
      UniProtKB/Swiss-Prot
      Q9H165
      Related
      ENSP00000352648.5, ENST00000359629.10

    RNA

    1. NR_175964.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007381, AC009970

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      60450520..60553924 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452963.2 → XP_024308731.1  B-cell lymphoma/leukemia 11A isoform X1

      UniProtKB/TrEMBL
      Q53TS1
      Conserved Domains (3) summary
      sd00017
      Location:692 → 712
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:691 → 712
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:339 → 364
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047444761.1 → XP_047300717.1  B-cell lymphoma/leukemia 11A isoform X2

      Conserved Domains (3) summary
      sd00017
      Location:592 → 612
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591 → 612
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:239 → 264
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      60456325..60559762 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342568.1 → XP_054198543.1  B-cell lymphoma/leukemia 11A isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138553.1: Suppressed sequence

      Description
      NM_138553.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H165.2 GenPept UniProtKB/Swiss-Prot:Q9H165

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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