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

Also Known as EHT; p85; MTGR1; ZMYND3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9139

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	Verweise	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	Verweise	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	Verweise	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

NHR2

zf-MYND

0
100
200
300
400
500
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	Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01993	CBFA2T2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CBFA2T2	NCBI