BCL11B - BCL11 transcription factor B Gene

Also Known as ATL1; RIT1; CTIP2; IMD49; CTIP-2; IDDFSTA; SMARCM2; ZNF856B; ATL1-beta; ATL1-alpha; ATL1-delta; ATL1-gamma; hRIT1-alpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64919

About BCL11B

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:99,169,287-99,272,197 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues, 14 paralogues and is associated with 83 phenotypes. Biased expression in skin (RPKM 7.8), lymph node (RPKM 5.6) and 13 other tissues.

Summary

This gene encodes a C2H2-type Zinc Finger Protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

BCL11B Products (4)

mRNA Protein Name
NM_001282237.2 NP_001269166.1 B-cell lymphoma/leukemia 11B isoform 3
NM_001282238.2 NP_001269167.1 B-cell lymphoma/leukemia 11B isoform 4
NM_022898.3 NP_075049.1 B-cell lymphoma/leukemia 11B isoform 2
NM_138576.4 NP_612808.1 B-cell lymphoma/leukemia 11B isoform 1
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
17245431 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in hematopoietic stem cell migration IMP
IMP: Inferred from mutant phenotype
27959755 GOA
involved in lymphoid lineage cell migration into thymus IMP
IMP: Inferred from mutant phenotype
27959755 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
16809611 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of SWI/SNF complex IDA
IDA: Inferred from direct assay
23644491 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

BCL11B Protein Structure

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (56 - 82)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (441 - 464)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (810 - 834)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (854 - 877)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 894 a.a.
Protein Preferred Names Protein Names

B-cell lymphoma/leukemia 11B

  • B cell CLL/lymphoma 11B

BCL11B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
BCL11B Q9C0K0 HDAC2 Homo sapiens Q92769 33961781
Intra
BCL11B Q9C0K0 HDAC2 Homo sapiens Q92769
IF
17245431
Intra
BCL11B Q9C0K0 HDAC1 Homo sapiens Q13547 33961781
Intra
BCL11B Q9C0K0 SUV39H1 Homo sapiens O43463
IF
17245431
Intra
BCL11B Q9C0K0 SUV39H1 Homo sapiens O43463 17245431
Cross: Cross-species interaction Intra: Intraspecies interaction

BCL11B Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P80095 Ctip2 Antibody (YA488) WB, ICC/IF, IHC-P, FC Human, Mouse
HY-P84782 Ctip2 Antibody (YA4479) IHC-P, ICC/IF, FC, ELISA Human
HY-P84782A Ctip2 Antibody (YA4479)(PBS only) IHC-P, ICC/IF, FC, ELISA Human
HY-P86586 Ctip2 Antibody (YA6278) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Immunodeficiency 49
  • IMD49

  • Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Immunodeficiency 49, Severe Combined

  • Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
  • IDDSFTA

  • Intellectual Developmental Disorder With Dysmorphic Facies, Speech Delay, And T-Cell Abnormalities

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

Combined T And B Cell Immunodeficiency
Adult T-Cell Leukemia/Lymphoma
  • Adult T-Cell Leukemia

  • Atll

  • Adult T-Cell Leukaemia

  • Adult T-Cell Leukaemia/Lymphoma

  • Adult T-Cell Lymphoma

  • T Cell Leukemia Lymphoma Adult

  • Leukemia-Lymphoma, Adult T-Cell

  • Leukemia, T-Cell

  • Adult T-Cell Lymphoma/Leukemia

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

B-Cell Lymphoma
  • Lymphoma, B-Cell

  • B-Cell Lymphomas

  • B-Cell Lymphocytic Neoplasm

  • Lymphoma B-Cell

  • B-Cell Lymphoma Nos

Leukemia
  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos

Mixed Phenotype Acute Leukemia, T/Myeloid
  • Doid:0081039

Severe Combined Immunodeficiency
  • Scid

  • Severe Combined Immunodeficiency Disease

  • Combined T And B Cell Inborn Immunodeficiency

  • Immunodeficiency, Severe Combined

  • Scid - [Severe Combined Immunodeficiencies]

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Spastic Quadriplegia
  • Spastic Quadriplegic Cerebral Palsy

  • Quadriplegic Infantile Cerebral Palsy

  • Tetraplegic Infantile Cerebral Palsy

  • Cerebral Palsy Spastic Quadriplegic

  • Quadriplegic Cerebral Palsy

  • Spastic Quadriplegia Cerebral Palsy

  • Spastic Tetraplegia Cerebral Palsy

  • Cerebral Palsy, Quadriplegic, Infantile

  • Cerebral Palsy With Spastic Tetraplegia

  • Congenital Spastic Quadriplegia

  • Spastic Tetraplegic Cerebral Palsy

  • Congenital Quadriplegia Nos

  • Tetraplegic Cerebral Palsy

Zika Virus Congenital Syndrome
  • Zikv Congenital Infection

Developmental And Epileptic Encephalopathy 66
  • DEE66

  • Epileptic Encephalopathy, Early Infantile, 66

  • Eiee66

  • Developmental And Epileptic Encephalopathy, 66

  • Early Infantile Epileptic Encephalopathy 66

  • Encephalopathy, Epileptic, Early Infantile, Type 66

Splenic Manifestation Of Leukemia
  • Splenic Leukemia

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Quadriplegia
  • Tetraplegia

  • Tetraplegias

Aneurysm, Intracranial Berry, 12
  • ANIB12

  • Intracranial Berry Aneurysm 12

Glass Syndrome
  • Chromosome 2q32-Q33 Deletion Syndrome

  • Satb2-Associated Syndrome

  • 2q33.1 Microdeletion Syndrome

  • Sas

  • 2q32-Q33 Microdeletion Syndrome

  • 2q32q33 Microdeletion Syndrome

  • Monosomy 2q32

  • Monosomy 2q32-Q33

  • Monosomy 2q32q33

  • 2q32 Deletion Syndrome

  • Del(2)(Q32)

  • Del(2)(Q32q33)

  • GLASS

  • 2q32q33 Microdeletion Syndromes

  • Satb2 Syndrome

  • Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

  • Del(2)(Q33.1)

  • Monosomy 2q33.1

  • Satb2-Associated Syndrome Due To A Pathogenic Variant

  • Satb2-Associated Syndrome Due To A Point Mutation

  • Satb2 Associated Disorder

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Periventricular Nodular Heterotopia
  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked

Primary Autosomal Recessive Microcephaly
  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus BCL11B RGD RGD:1311128
Mus musculus BCL11B MGD MGI:1929913
Felis catus BCL11B VGNC VGNC:104360
Bos taurus BCL11B VGNC VGNC:58470
Macaca mulatta BCL11B VGNC VGNC:70056
Canis familiaris BCL11B VGNC VGNC:57981
Others BCL11B NCBI