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FLASH GENE

Symbol

CBFA2T3

contributors: mct/npt/pgu - updated : 31-03-2012

HGNC name	core-binding factor, runt domain, alpha subunit 2; translocated to, 3
HGNC id	1537

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16q24.3      Physical location : 88.941.266 - 89.043.401
Synonym name	myeloid translocation gene, related 2
	MTG8-related gene 2
	myeloid translocation gene on chromosome 16
	zinc finger MYND domain-containing protein 4
	protein CBFA2T3
Synonym symbol(s)	MTGR2, MTG16, EVI31, ETO2, ZMYND4

DNA

TYPE	functioning gene
STRUCTURE	102.14 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

alternative promoter

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D16S516 - D16S422 - D16S520 - CBFA2T3 - qter

RNA

TRANSCRIPTS	type	messenger

text	several and minor transcript expressed in various tissues

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_175931 12 - 4265 NP_005178 - 653 - 2008 18456661 localized in the nucleolus NM_175931 11 - 4034 NP_787127 - 567 widely 2008 18456661 kinase anchoring protein in T lymphocytes localized in the nucleoplasm

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       highly   thymus       highly Digestive liver       highly Endocrine pancreas       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial secretory glandular endocrine   Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Nervous optic nerve

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal liver, eyes, lens, eye anterior segment, optic nerve, retina, retina foveal and macula, RPE and choroid
	expressed in distinct patterns in the developing nervous system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four proline, serine/threonine rich regions
	a zinc finger domain
	four NERVY homology domains (NHR1, NHR2, NHR3, NHR4; NHR3 and NHR4 interact with a conserved proline-rich region located within the C terminus of ZNF652)

HOMOLOGY

interspecies	homolog to Drosophila nervy
	ortholog to murine Cbfa 2t3h

Homologene

FAMILY	myeloid translocation gene (MTG) family of transcriptional corepressors
	CBFA2T family

CATEGORY

transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus

basic FUNCTION	control of cell proliferation
	functioning as a transcriptional repressor in normal breast epithelial cells
	involved in the chromatin repression
	interfaces with critical components of the Notch transcription complex to affect Notch-dependent lineage allocation in hematopoiesis
	a key component of the Notch regulatory network implicated in Notch-dependent transcriptional activation
	integrates the activities of signaling pathways and nuclear factors in the establishment of T-cell fate specification

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ZNF652 strongly interacts with CBFA2T3 and this interaction occurs through the C-terminal 109 amino acids of ZNF652
	RUNX1T1 and CBFA2T3, are fused to the DNA-binding domain of AML1, a transcriptional activator crucial for hematopoiesis
	interacts with each member of the Notch receptor family
	NEUROG2 and ASCL1 are inhibited by CBFA2T2 and CBFA2T3, and less efficiently by RUNX1T1

cell & other

core binding

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     targeted by t(16;21) in acute myeloid leukemia, and is required for hematopoietic progenitor cell fate decisions and for early progenitor cell proliferation tumoral   translocation     CBFA2T3/ACSF3 locus is a novel recurrent oncogenic target of IGH translocations, which might contribute to the pathogenesis of pediatric germinal center-derived B-cell lymphoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mice with constitutive deletion of Mtg16 display defects in hematopoietic stem/progenitor cell functions