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  2. CBFA2T3 - CBFA2/RUNX1 partner transcriptional co-repressor 3 Gene

CBFA2T3 - CBFA2/RUNX1 partner transcriptional co-repressor 3 Gene

中文名称:CBFA2/RUNX1 伙伴转录辅阻遏物 3

种属: Homo sapiens

同用名: ETO2; MTG16; MTGR2; ZMYND4; RUNX1T3

基因 ID: 863 | 基因类型: protein coding

关于 CBFA2T3

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:88,874,858-88,977,207 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 86 phenotypes. Broad expression in spleen (RPKM 6.2), lymph node (RPKM 3.7) and 24 other tissues.

功能概要

该基因编码骨髓易位基因家族的一个成员,该家族与 DNA 结合的转录因子相互作用并募集一系列辅抑制因子以促进转录抑制。 t (16;21) (q24;q22) 易位是急性髓性白血病中不太常见的核型异常之一。易位产生一个嵌合基因,该基因由 runt 相关转录因子 1 基因的 5' 区域与该基因的 3' 区域融合而成。该基因也是推定的乳腺肿瘤抑制基因。可变剪接导致转录物变异。[RefSeq 提供,2010 年 11 月]

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]

CBFA2T3 基因产物(2)

mRNA Protein Name
NM_005187.6 NP_005178.4 protein CBFA2T3 isoform 1
NM_175931.3 NP_787127.1 protein CBFA2T3 isoform 2
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
16966434 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

CBFA2T3 蛋白结构

TAFH

TAFH: NHR1 homology to TAF (172 - 265)

NHR2

NHR2: NHR2 domain like (379 - 445)

zf-MYND

zf-MYND: MYND finger (556 - 592)

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  • 500
  • 600
  • 653 a.a.
蛋白主名 其他名称

protein CBFA2T3

CBFA2/RUNX1 translocation partner 3

CBFA2T3 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
种属内
CBFA2T3 O75081 ZNF652 Homo sapiens Q9Y2D9 16966434
种属内
CBFA2T3 O75081 ZNF652 Homo sapiens Q9Y2D9
Y2H
16966434
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Acute Megakaryoblastic Leukemia Without Down Syndrome

Non-Ds-Amkl

Childhood Acute Megakaryoblastic Leukemia

Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

Myeloid Leukemia Associated With Down Syndrome
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

Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia

Paediatric Acute Myeloid Leukaemia

Pediatric Acute Myeloid Leukemia

Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis

Transient Myeloproliferative Syndrome

Transient Myeloproliferative Disease

Mst

Tam

Leukemia, Transient, Of Down Syndrome

Tmd

Leukemia, Transient

Transient Leukemia

Transient Leukemia Of Down Syndrome

Childhood Leukemia
Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia

Acute Megakaryoblastic Leukaemia

Megakaryocytic Myelosis

Thrombocytic Leukaemia

Amkl

Aml M7

Acute Myeloblastic Leukemia Type 7

Acute Myeloid Leukemia M7

Megakaryoblastic Leukemia Acute

Leukemia, Megakaryoblastic, Acute

Acute Myeloid Leukaemia, M7

Acute Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Fab M7

Fab M7

Malignant Megakaryocytosis

M7 - Acute Megakaryoblastic Leukaemia

Megakaryoblastic Leukaemia

Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Nos

Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Acute Erythroid Leukemia

Acute Erythroleukemia

Di Guglielmo'S Syndrome

Aml M6

Acute Myeloid Leukemia Fab-M6

Acute Myeloid Leukemia M6

Erythroleukemia

Aml-M6

Acute Erythroleukemia M6a Subtype

Acute Erythroleukemia M6b Subtype

Di Guglielmo Syndrome

Acute Myeloid Leukemia, M6 Type

Acute Erythroblastic Leukemia

Acute Erythroleukemia - M6a Subtype

Acute Erythroleukemia - M6b Subtype

Acute Erythraemia And Erythroleukaemia

Acute Erythroid Leukaemia Without Mention Of Remission

Erythraemia

Erythraemic Myelosis

Erythroleukaemia

Acute Erythraemic Myelosis

Acute Erythraemia

Chromosomal Duplication Syndrome
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

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
Felis catus CBFA2T3 VGNC VGNC:82569
Mus musculus CBFA2T3 MGD MGI:1338013
Rattus norvegicus CBFA2T3 RGD RGD:1310547
Macaca mulatta CBFA2T3 VGNC VGNC:104685
Canis familiaris CBFA2T3 VGNC VGNC:56007
Bos taurus CBFA2T3 VGNC VGNC:80260
Others CBFA2T3 NCBI