BCL11A - BCL11 transcription factor A Gene

Also Known as EVI9; CTIP1; DILOS; ZNF856; HBFQTL5; SMARCM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 53335

About BCL11A

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:60,450,520-60,553,654 (from NCBI)

This gene has 27 transcripts (splice variants), 212 orthologues, 14 paralogues and is associated with 79 phenotypes. Broad expression in skin (RPKM 2.8), lymph node (RPKM 2.2) and 17 other tissues.

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]

BCL11A Products (34)

mRNA	Protein	Name
NM_001363864.1	NP_001350793.1	B-cell lymphoma/leukemia 11A isoform 4
NM_001365609.1	NP_001352538.1	B-cell lymphoma/leukemia 11A isoform 5
NM_001405708.1	NP_001392637.1	B-cell lymphoma/leukemia 11A isoform 1
NM_001405709.1	NP_001392638.1	B-cell lymphoma/leukemia 11A isoform 1
NM_001405710.1	NP_001392639.1	B-cell lymphoma/leukemia 11A isoform 6
NM_001405711.1	NP_001392640.1	B-cell lymphoma/leukemia 11A isoform 5
NM_001405712.1	NP_001392641.1	B-cell lymphoma/leukemia 11A isoform 5
NM_001405713.1	NP_001392642.1	B-cell lymphoma/leukemia 11A isoform 15
NM_001405714.1	NP_001392643.1	B-cell lymphoma/leukemia 11A isoform 15
NM_001405715.1	NP_001392644.1	B-cell lymphoma/leukemia 11A isoform 15
NM_001405716.1	NP_001392645.1	B-cell lymphoma/leukemia 11A isoform 7
NM_001405717.1	NP_001392646.1	B-cell lymphoma/leukemia 11A isoform 16
NM_001405718.1	NP_001392647.1	B-cell lymphoma/leukemia 11A isoform 16
NM_001405719.1	NP_001392648.1	B-cell lymphoma/leukemia 11A isoform 8
NM_001405720.1	NP_001392649.1	B-cell lymphoma/leukemia 11A isoform 17
NM_001405721.1	NP_001392650.1	B-cell lymphoma/leukemia 11A isoform 17
NM_001405722.1	NP_001392651.1	B-cell lymphoma/leukemia 11A isoform 18
NM_001405723.1	NP_001392652.1	B-cell lymphoma/leukemia 11A isoform 18
NM_001405724.1	NP_001392653.1	B-cell lymphoma/leukemia 11A isoform 9
NM_001405725.1	NP_001392654.1	B-cell lymphoma/leukemia 11A isoform 19
NM_001405726.1	NP_001392655.1	B-cell lymphoma/leukemia 11A isoform 19
NM_001405727.1	NP_001392656.1	B-cell lymphoma/leukemia 11A isoform 19
NM_001405728.1	NP_001392657.1	B-cell lymphoma/leukemia 11A isoform 19
NM_001405729.1	NP_001392658.1	B-cell lymphoma/leukemia 11A isoform 10
NM_001405730.1	NP_001392659.1	B-cell lymphoma/leukemia 11A isoform 11
NM_001405731.1	NP_001392660.1	B-cell lymphoma/leukemia 11A isoform 12
NM_001405732.1	NP_001392661.1	B-cell lymphoma/leukemia 11A isoform 3
NM_001405733.1	NP_001392662.1	B-cell lymphoma/leukemia 11A isoform 13
NM_001405734.1	NP_001392663.1	B-cell lymphoma/leukemia 11A isoform 20
NM_001405735.1	NP_001392664.1	B-cell lymphoma/leukemia 11A isoform 20
NM_001405736.1	NP_001392665.1	B-cell lymphoma/leukemia 11A isoform 14
NM_018014.4	NP_060484.2	B-cell lymphoma/leukemia 11A isoform 2
NM_022893.4	NP_075044.2	B-cell lymphoma/leukemia 11A isoform 1
NM_138559.2	NP_612569.1	B-cell lymphoma/leukemia 11A isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16704730	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	16704730	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19153051	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	19616629	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	16704730	GOA
enables transcription coregulator activity	IDA IDA: Inferred from direct assay	29606353	GOA
enables transcription regulatory region nucleic acid binding	IDA IDA: Inferred from direct assay	29606353	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of collateral sprouting	IMP IMP: Inferred from mutant phenotype	19616629	GOA
involved in negative regulation of dendrite development	IMP IMP: Inferred from mutant phenotype	19616629	GOA
involved in negative regulation of neuron projection development	IDA IDA: Inferred from direct assay	19616629	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16704730	GOA
involved in positive regulation of collateral sprouting	IMP IMP: Inferred from mutant phenotype	19616629	GOA
involved in positive regulation of neuron projection development	IDA IDA: Inferred from direct assay	19616629	GOA
involved in regulation of dendrite development	IMP IMP: Inferred from mutant phenotype	19616629	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SWI/SNF complex	IDA IDA: Inferred from direct assay	23644491	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19616629	GOA
located in paraspeckles	IDA IDA: Inferred from direct assay	16704730	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCL11A Protein Structure

zf-C2H2_6

zf-H2C2_2

zf-C2H2

0
200
400
600
835 a.a.

Protein Preferred Names	Protein Names
B-cell lymphoma/leukemia 11A	B cell CLL/lymphoma 11A

BCL11A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80094	Ctip1 Antibody (YA489)	WB, FC, ICC/IF	Human

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Dias-Logan Syndrome Intellectual Developmental Disorder With Hereditary Persistence Of Fetal Hemoglobin IDPFH
Hereditary Persistence Of Fetal Hemoglobin-Intellectual Disability Syndrome	Dias-Logan Syndrome
Corpus Callosum, Agenesis Of	Corpus Callosum Agenesis Agenesis Of The Corpus Callosum Isolated Corpus Callosum Agenesis Acc Non Rare In Europe: Isolated Corpus Callosum Agenesis Congenital Malformation Of Corpus Callosum Deformity Of Corpus Callosum Absence Of Corpus Callosum Absent Corpus Callosum Acc - [Agenesis Of Corpus Callosum] Aplasia Of Corpus Callosum Congenital Absence Of Corpus Callosum Hypoplastic Corpus Callosum Hypoplasia Of Corpus Callosum
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	Da Silva Syndrome Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Polydactyly, Postaxial, Type A1	Postaxial Polydactyly Type A Polydactyly, Postaxial Postaxial Polydactyly PAPA1 Postaxial Polydactyly, Type A Papa Polydactyly, Postaxial, Types A1 And B Postaxial Polydactyly Type B Polydactyly Postaxial Polydactyly, Postaxial A1 Polydactyly, Postaxial B PAPB Postaxial Polydactyly, Type A1/B Polydactyly, Postaxial, Type A Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Postaxial Polydactyly, Type B
Fetal Hemoglobin Quantitative Trait Locus 5	Fetal Hemoglobin Qtl5 HBFQTL5
Bcl11a-Related Intellectual Disability	Dias-Logan Syndrome Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hpfh-Sickle Cell Disease Syndrome
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Lymphoma	Lymphoid Cancer Lymphomas Lymphoid Cancers Lymphoid Neoplasm Lymphoma Nos Nhl - [Non-Hodgkin Lymphoma] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma, Nos Non-Hodgkin Malignant Lymphoma Nos
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	CHEGDD
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
Chromosome 2p16.1-P15 Deletion Syndrome	2p15p16.1 Microdeletion Syndrome 2p15-P16.1 Microdeletion Syndrome Del(2)(P15p16.1) Monosomy 2p15p16.1 Monosomy 2p15-P16.1
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Peroxisome Biogenesis Disorder 11a	PBD11A Peroxisome Biogenesis Disorder Complementation Group 13 PBD-CG13 Cg13 Pbd-Cgh Peroxisome Biogenesis Disorder Complementation Group H Peroxisome Biogenesis Disorder, Type 11a Peroxisome Biogenesis Disorder, Complementation Group 13
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Beta-Thalassemia Intermedia
Hemoglobinopathy	Hemoglobinopathies
Mediastinal Gray Zone Lymphoma	Mediastinal B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma
Mediastinal Malignant Lymphoma	Lymphoma Of Mediastinum Mediastinal Lymphoma
Hemoglobin E Disease	Hemoglobin E Hb-E Disease
Anemia, Congenital Dyserythropoietic, Type Iv	CDAN4 Congenital Dyserythropoietic Anemia Type Iv Congenital Dyserythropoietic Anemia Type 4 Cda Iv Cda Due To Klf1 Mutation Cda Type 4 Cda Type Iv Congenital Dyserythropoietic Anemia Due To Klf1 Mutation Cda, Type Iv Dyserythropoietic Anemia, Congenital, Type Iv Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation Congenital Dyserythropoietic Anaemia Type 4 Congenital Dyserythropoietic Anaemia Type Iv Anemia, Congenital Dyserythropoietic, 4 Anemia, Dyserythropoietic Congenital, Type Iv Anemia, Dyserythropoietic, Congenital, Type Iv
Acute Chest Syndrome	Acute Chest Syndrome In Sickle Cell Disease
Hemoglobin C Disease	Hb C Disease Hemoglobin C Hb-C Disease
Priapism	Mentulagra Priapism, Familial Idiopathic Familial Idiopathic Priapism Pathologic Erection Painful Erection
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
Penile Disease	Penile Diseases
Patau Syndrome	Trisomy 13 Complete Trisomy 13 Syndrome Trisomy 13 Syndrome D1 Trisomy Patau'S Syndrome Complete Trisomy 13 Chromosome 13, Trisomy 13 Complete D Trisomy Syndrome Bartholin-Patau Syndrome Chromosome 13 Duplication D1 Trisomy Syndrome D>1< Trisomy Syndrome Patau Chromosome 13 Trisomy Abnormal Autosomes 13
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Hemoglobin H Disease	HBH Hemoglobin H Disease, Nondeletional Hemoglobin H Disease, Deletional Alpha-Thalassemia Intermedia Haemoglobin H Disease Alpha-Thalassemia, Hemoglobin H Type Hemoglobin H Disease, Deletional And Nondeletional Alpha Thalassemia, Haemoglobin H Type Alpha Thalassemia, Hemoglobin H Type Haemoglobin H Disease, Deletional Hbh Disease Alpha-Thalassemia Hemoglobin H Type Hemoglobin H Disease Deletional Hemoglobin H Disease Non-Deletional Alpha-Thalassemia Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia Alpha Thalassaemia Intermedia
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152775	RK-701	Inhibitor	98.01%	Unkown
HY-147099	dTAG-47-NEG	Control	98.93%	Unkown
HY-RS01413	BCL11A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20529	Bcl11a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27038	Bcl11a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BCL11A	VGNC	VGNC:58661
Rattus norvegicus	BCL11A	RGD	RGD:1309923
Felis catus	BCL11A	VGNC	VGNC:60083
Bos taurus	BCL11A	VGNC	VGNC:59205
Macaca mulatta	BCL11A	VGNC	VGNC:70055
Mus musculus	BCL11A	MGD	MGI:106190
Others	BCL11A	NCBI