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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ETO2; MTG16; MTGR2; ZMYND4; RUNX1T3

Gene ID: 863 | Gene type: protein coding

About 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.

Summary

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 Products(2)

mRNA Protein Name
NM_005187.6 NP_005178.4 protein CBFA2T3 isoform 1
NM_175931.3 NP_787127.1 protein CBFA2T3 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16966434 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within granulocyte differentiation IDA
IDA: Inferred from direct assay
15231665 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
23840896 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
23251453 GOA
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
23840896 GOA
involved in negative regulation of glycolytic process IDA
IDA: Inferred from direct assay
23840896 GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
25974097 GOA
involved in regulation of aerobic respiration IDA
IDA: Inferred from direct assay
23840896 GOA
involved in response to hypoxia IDA
IDA: Inferred from direct assay
23840896 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

CBFA2T3 Protein Structure

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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  • 653 a.a.
Protein Preferred Names Protein Names

protein CBFA2T3

CBFA2/RUNX1 translocation partner 3

CBFA2T3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CBFA2T3 O75081 ZNF652 Homo sapiens Q9Y2D9
Anti Tag CoIP
16966434
Intra
CBFA2T3 O75081 ZNF652 Homo sapiens Q9Y2D9
Y2H
16966434
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01994 CBFA2T3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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