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

Gene ID: 53335, updated on 3-Apr-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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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (60450520..60553924, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (60456325..60559762, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (60677655..60780789, 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
  • 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. RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines. Yin J, et al. Ann Hematol, 2023 Jul. PMID 37148312
  2. [Genetic analysis of a family with BCL11A-related intellectual disability]. Liu A, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2023 Jan 10. PMID 36584999
  3. 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. Sales RR, et al. J Hum Genet, 2022 Dec. PMID 36167770
  4. BCL11A Facilitates Cell Proliferation and Metastasis in Neuroblastoma via Regulating the PI3K/Akt Signaling Pathway. Jin Q, et al. Curr Cancer Drug Targets, 2022. PMID 35909289, Free PMC Article
  5. 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. Bruce L, et al. Am J Med Genet A, 2022 Dec. PMID 35856171

See all (182) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. [Genetic analysis of a family with BCL11A-related intellectual disability].
    Title: [Genetic analysis of a family with BCL11A-related intellectual disability].
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
    Title: HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
  10. Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.
    Title: Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.
Submit: New GeneRIF Correction See all GeneRIFs (124)

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 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 kinase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular response to L-glutamate IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of branching morphogenesis of a nerve IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of dendrite development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of dendrite extension IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in protein sumoylation ISS
Inferred from Sequence or Structural Similarity
more info
  
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 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 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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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_2023_10

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

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