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

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

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

Also known as EHT; p85; MTGR1; ZMYND3

Gene ID: 9139 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
19026687 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
23251453 GOA
involved in positive regulation of neuron projection development IDA
IDA: Inferred from direct assay
19026687 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
19026687 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

CBFA2T2 Protein Structure

TAFH

TAFH: NHR1 homology to TAF (114 - 207)

NHR2

NHR2: NHR2 domain like (331 - 397)

zf-MYND

zf-MYND: MYND finger (507 - 543)

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  • 604 a.a.
Protein Preferred Names Protein Names

protein CBFA2T2

CBFA2/RUNX1 translocation partner 2

CBFA2T2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CBFA2T2 O43439 PDP1 Homo sapiens Q9P0J1
Validated Y2H
25416956
Intra
CBFA2T2 O43439 PDP1 Homo sapiens Q9P0J1
Y2H Prey Pooling
25416956
Intra
CBFA2T2 O43439 PDP1 Homo sapiens Q9P0J1
Y2H Array
25416956
Intra
CBFA2T2 O43439 TCP1 Homo sapiens P17987
Validated Y2H
25416956
Intra
CBFA2T2 O43439 TCP1 Homo sapiens P17987
Y2H Array
25416956
Intra
CBFA2T2 O43439 PRDM14 Homo sapiens Q9GZV8
Anti Tag CoIP
27281218
Intra
CBFA2T2 O43439 PRDM14 Homo sapiens Q9GZV8
Y2H Array
20211142
Intra
CBFA2T2 O43439 PRDM14 Homo sapiens Q9GZV8
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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-RS01993 CBFA2T2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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