2. Gene
  3. CBFB - core-binding factor subunit beta Gene

CBFB - core-binding factor subunit beta Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：核心结合因子β亚基

种属: Homo sapiens

同用名: CLCD2; PEBP2B

基因 ID: 865 | 基因类型: protein coding

关于 CBFB

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,029,149-67,101,058 (from NCBI)

This gene has 13 transcripts (splice variants), 215 orthologues and is associated with 64 phenotypes. Ubiquitous expression in lymph node (RPKM 12.7), appendix (RPKM 9.3) and 25 other tissues.

功能概要

由该基因编码的蛋白质是属于 PEBP2/CBF 转录因子家族的异二聚体核心结合转录因子的 β 亚基，该转录因子主要调节一系列造血功能 (例如 RUNX1) 和成骨 (例如 RUNX2) 特异性基因. beta 亚基是一个非 DNA 结合的调节亚基；它通过变构增强 α 亚基的 DNA 结合，因为复合物结合到各种增强子和启动子的核心位点，包括鼠白血病病毒、多瘤病毒增强子、T 细胞受体增强子和 GM-CSF 启动子。可变剪接产生两个 mRNA 变体，每个变体编码一个不同的羧基末端。在某些情况下，16 号染色体 [inv (16) (p13q22) ] 的中心倒位产生嵌合转录物，其由核心结合因子 β 的 N 末端与平滑肌肌球蛋白重链的 C 末端部分融合而成 11. 这种染色体重排与 M4Eo 亚型的急性髓性白血病有关。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle Myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CBFB 基因产物(6)

mRNA Protein Name
NM_001368707.1 NP_001355636.1 core-binding factor subunit beta isoform 3
NM_001368708.1 NP_001355637.1 core-binding factor subunit beta isoform 4
NM_001368709.1 NP_001355638.1 core-binding factor subunit beta isoform 5
NM_001368710.1 NP_001355639.1 core-binding factor subunit beta isoform 6
NM_001755.3 NP_001746.1 core-binding factor subunit beta isoform 2
NM_022845.3 NP_074036.1 core-binding factor subunit beta isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
2845103 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein polyubiquitination IMP
IMP: 通过突变表型推断
22190036 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CBFB 蛋白结构

CBF_beta

CBF_beta: Core binding factor beta subunit (1 - 170)

  • 0
  • 100
  • 182 a.a.
蛋白主名 其他名称

core-binding factor subunit beta

CBF-beta

CBFB 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra CBFB Q13951 RUNX1 Homo sapiens Q01196-8
Y2H Prey Pooling
32296183
Intra CBFB Q13951 RUNX1 Homo sapiens Q01196-8
Y2H Array
32296183
Intra CBFB Q13951 RUNX3 Homo sapiens Q13761-2
Y2H Array
32296183
Intra CBFB Q13951 RUNX3 Homo sapiens Q13761-2
Y2H Prey Pooling
32296183
Intra CBFB Q13951 INTS13 Homo sapiens Q9NVM9
Display Tech
20195357
Intra CBFB Q13951 RUNX1 Homo sapiens Q01196
Anti Tag CoIP
33961781
Intra CBFB Q13951 RUNX1 Homo sapiens Q01196
Anti Tag CoIP
17431401
Intra CBFB Q13951 RUNX1 Homo sapiens Q01196
Anti Tag CoIP
34591612
Intra CBFB Q13951 RUNX1 Homo sapiens Q01196
X-Ray Diffraction
2845103
Intra CBFB Q13951 RUNX1 Homo sapiens Q01196
Anti Bait CoIP
25678665
Intra CBFB Q13951 RUNX3 Homo sapiens Q13761
Anti Tag CoIP
33961781
Cross CBFB Q13951 vif Human immunodeficiency virus P12504
Ion Exchange Chrom
24402281
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CBFB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76767 CBFB Protein, Human (His) Q13951-1 (P2-P182) ≥95%

关联疾病

疾病名称 别名
Acute Myelomonocytic Leukemia

Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml M4

Ammol

Acute Myeloblastic Leukemia Type 4

Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml-M4

Aml With Inv(16)(P13.1q22) Or T(16

16)(P13.1

Q22)

Cbfb-Myh11

Leukemia Myelomonocytic Acute

Leukemia, Myelomonocytic, Acute

Acute Myelomonocytic Leukaemia Without Mention Of Remission

Myelomonocytic Leukaemia Nos
Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos
Estrogen-Receptor Positive Breast Cancer
Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation
Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To
Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-108470 Ro5-3335 99.35% 否
HY-RS01995 CBFB Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-124137 Runx1-CBFβ interaction inhibitor 1 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CBFB VGNC VGNC:38757
Rattus norvegicus CBFB RGD RGD:620493
Bos taurus CBFB VGNC VGNC:26807
Mus musculus CBFB MGD MGI:99851
Others CBFB NCBI
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