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

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

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

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

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