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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S1422 (e-PCR)
- UniSTS:72989

RH94052 (e-PCR)
- UniSTS:87894

D2S2198 (e-PCR), detects polymorphism
- UniSTS:80731

RH138170 (e-PCR)
- UniSTS:220257

RH123484 (e-PCR)
- UniSTS:135807

RH45041 (e-PCR)
- UniSTS:71041

G34992 (e-PCR)
- UniSTS:76684

RH80326 (e-PCR)
- UniSTS:88729

Bcl11a (e-PCR), detects polymorphism
- UniSTS:258468

Bcl11a (e-PCR), detects polymorphism
- UniSTS:258253

RH70463 (e-PCR)
- UniSTS:214

Bcl11a (e-PCR), detects polymorphism
- UniSTS:530679

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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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

NG_011968.1 RefSeqGene

Range

4845..101305

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

B3KNX8, D6W5D9, D9YZW0
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

B3KNX8, D6W5D9, D9YZW0
NM_001405710.1 → NP_001392639.1 B-cell lymphoma/leukemia 11A isoform 6

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B4DMK8
NM_001405711.1 → NP_001392640.1 B-cell lymphoma/leukemia 11A isoform 5

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B4DMK8
NM_001405712.1 → NP_001392641.1 B-cell lymphoma/leukemia 11A isoform 5

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B4DMK8
NM_001405713.1 → NP_001392642.1 B-cell lymphoma/leukemia 11A isoform 15

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

Q53TS1
NM_001405714.1 → NP_001392643.1 B-cell lymphoma/leukemia 11A isoform 15

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

Q53TS1
NM_001405715.1 → NP_001392644.1 B-cell lymphoma/leukemia 11A isoform 15

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

Q53TS1
NM_001405716.1 → NP_001392645.1 B-cell lymphoma/leukemia 11A isoform 7

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B4DMK8
NM_001405717.1 → NP_001392646.1 B-cell lymphoma/leukemia 11A isoform 16

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KRW8
NM_001405718.1 → NP_001392647.1 B-cell lymphoma/leukemia 11A isoform 16

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KRW8
NM_001405719.1 → NP_001392648.1 B-cell lymphoma/leukemia 11A isoform 8

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KNX8
NM_001405720.1 → NP_001392649.1 B-cell lymphoma/leukemia 11A isoform 17

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

Q53TS1
NM_001405721.1 → NP_001392650.1 B-cell lymphoma/leukemia 11A isoform 17

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

Q53TS1
NM_001405722.1 → NP_001392651.1 B-cell lymphoma/leukemia 11A isoform 18

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KNX8
NM_001405723.1 → NP_001392652.1 B-cell lymphoma/leukemia 11A isoform 18

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KNX8
NM_001405724.1 → NP_001392653.1 B-cell lymphoma/leukemia 11A isoform 9

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KNX8
NM_001405725.1 → NP_001392654.1 B-cell lymphoma/leukemia 11A isoform 19

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KRW8

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

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KRW8

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

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KRW8

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

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B3KRW8

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

Status: REVIEWED

Source sequence(s)

AC007381, AC009970
NM_001405730.1 → NP_001392659.1 B-cell lymphoma/leukemia 11A isoform 11

Status: REVIEWED

Source sequence(s)

AC007381, AC009970
NM_001405731.1 → NP_001392660.1 B-cell lymphoma/leukemia 11A isoform 12

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

B4DT16
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
NM_001405733.1 → NP_001392662.1 B-cell lymphoma/leukemia 11A isoform 13

Status: REVIEWED

Source sequence(s)

AC007381, AC009970

UniProtKB/TrEMBL

A0A2R8Y2E8, A0A2R8Y7B0

Related

ENSP00000493484.1, ENST00000642439.1
NM_001405734.1 → NP_001392663.1 B-cell lymphoma/leukemia 11A isoform 20

Status: REVIEWED

Source sequence(s)

AC007381, AC009970
NM_001405735.1 → NP_001392664.1 B-cell lymphoma/leukemia 11A isoform 20

Status: REVIEWED

Source sequence(s)

AC007381, AC009970
NM_001405736.1 → NP_001392665.1 B-cell lymphoma/leukemia 11A isoform 14

Status: REVIEWED

Source sequence(s)

AC007381, AC009970
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
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
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

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

60450520..60553924 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B3KRW8

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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

60456325..60559762 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q53TS1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.