2. Gene
  3. CBFA2T2 - CBFA2/RUNX1 partner transcriptional co-repressor 2 Gene

CBFA2T2 - CBFA2/RUNX1 partner transcriptional co-repressor 2 Gene

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

中文名称：CBFA2/RUNX1 伙伴转录辅抑制因子 2

种属: Homo sapiens

同用名: EHT; p85; MTGR1; ZMYND3

基因 ID: 9139 | 基因类型: protein coding

关于 CBFA2T2

Cytogenetic location: 20q11.21-q11.22 Genomic coordinates (GRCh38): 20:33,490,096-33,650,030 (from NCBI)

This gene has 10 transcripts (splice variants), 220 orthologues and 2 paralogues. Ubiquitous expression in prostate (RPKM 6.7), testis (RPKM 4.3) and 25 other tissues.

功能概要

在急性髓性白血病中，尤其是在 M2 亚型中，t (8;21) (q22;q22) 易位是最常见的核型异常之一。易位产生一个嵌合基因，该基因由 RUNX1 (AML1) 基因的 5' 区域与 CBFA2T1 (MTG8) 基因的 3' 区域融合而成。嵌合蛋白被认为与核辅阻遏物/组蛋白脱乙酰酶复合物相关联以阻断造血分化。该基因编码的蛋白质与 AML1-MTG8 复合体结合，可能对促进白血病发生很重要。该基因被认为存在多种转录变体，但仅描述了三种的全长性质。[RefSeq 提供，2008 年 7 月]

In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]

CBFA2T2 基因产物(3)

mRNA Protein Name
NM_001032999.3 NP_001028171.1 protein CBFA2T2 isoform MTGR1c
NM_001039709.2 NP_001034798.1 protein CBFA2T2 isoform MTGR1a
NM_005093.4 NP_005084.1 protein CBFA2T2 isoform MTGR1b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
16189514 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
19026687 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
23251453 GOA
involved in positive regulation of neuron projection development IDA
IDA: 通过直接分析推断
19026687 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
19026687 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

CBFA2T2 蛋白结构

TAFH

TAFH: NHR1 homology to TAF (114 - 207)

NHR2

NHR2: NHR2 domain like (331 - 397)

zf-MYND

zf-MYND: MYND finger (507 - 543)

  • 0
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  • 200
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  • 400
  • 500
  • 604 a.a.
蛋白主名 其他名称

protein CBFA2T2

CBFA2/RUNX1 translocation partner 2

关联疾病

疾病名称 别名
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
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Immunodeficiency Syndrome, Variable

ICF1

Ciid

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Centromeric Instability, Immunodeficiency Syndrome

Icf Syndrome 1

Centromeric Instability Immunodeficiency Syndrome

Icf Syndrome

Variable Immune Deficiency With Centromeric Instability Of Chromosomes 1 9 And 16

Variable Immunodeficiency Syndrome

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1

Common Variable Immunodeficiency

Chromosomal Instability
Myoclonic Epilepsy, Juvenile 3

Myoclonic Epilepsy, Juvenile, Susceptibility To, 3

EJM3

Epilepsy, Juvenile Myoclonic 3

Juvenile Myoclonic Epilepsy 3
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01993 CBFA2T2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CBFA2T2 VGNC VGNC:80261
Rattus norvegicus CBFA2T2 RGD RGD:1309088
Macaca mulatta CBFA2T2 VGNC VGNC:80257
Mus musculus CBFA2T2 MGD MGI:1333833
Canis familiaris CBFA2T2 VGNC VGNC:80255
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