1. Gene
  2. BCL11B - BCL11 transcription factor B Gene

BCL11B - BCL11 transcription factor B Gene

中文名称:BCL11 转录因子 B

种属: Homo sapiens

同用名: ATL1; RIT1; CTIP2; IMD49; CTIP-2; IDDFSTA; SMARCM2; ZNF856B; ATL1-beta; ATL1-alpha; ATL1-delta; ATL1-gamma; hRIT1-alpha

基因 ID: 64919 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种 C2H2 型锌指蛋白,与 BCL11A 密切相关,后者的易位可能与 B 细胞恶性肿瘤有关。虽然该基因的具体功能尚未确定,但已知其编码的蛋白质是一种转录抑制因子,并受 NURD 核小体重塑和组蛋白脱乙酰酶复合物的调控。已经为该基因发现了编码不同亚型的四种可变剪接的转录物变体。[RefSeq 提供,2013 年 8 月]

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 基因产物(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

BCL11B 蛋白结构

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
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  • 894 a.a.
蛋白主名 其他名称

B-cell lymphoma/leukemia 11B

B cell CLL/lymphoma 11B

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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