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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 863

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 Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
16966434 GOA
Biological Process GO Annotation Evidence Referencias 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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 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 Referencias
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

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS01994 CBFA2T3 Human Pre-designed siRNA Set A Pre-designed Set / 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