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FLASH GENE

Symbol

EBF3

contributors: mct - updated : 02-03-2017

HGNC name	early B-cell factor 3
HGNC id	19087

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 16 - 4361 - 551 - Deloukas (2004)

EXPRESSION

Type	restricted

constitutive of

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 Endocrine parathyroid         Lymphoid/Immune thymus         Nervous brain         Reproductive female system breast mammary gland     Visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C5-type zinc finger, serine/threonine/proline rich domain

mono polymer

homomer , heteromer , dimer

HOMOLOGY

Homologene

FAMILY	Olf/EBF family of helix-loop-helix transcription factors
	early B cell factor family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	regulates neurogenesis and differenciation
	regulates a transcriptional program underlying a putative tumor suppression pathway
	keystone in the regulatory network that coordinates B cell lineage specification and commitment (Lukin 2008)
	tumor suppressors whose inactivation blocks normal development and contributes to tumorigenesis of diverse types of cancer (Liao 2009)
	activates genes involved in cell cycle arrest and inhibits cell survival
	both EBF2 and EBF3, singly or together, control the migration of Cajal-Retzius (CR) cells arising in the cortical hem, and Ebfs directly regulate CR cell development
	is a new regulator of terminal muscle differentiation in the diaphragm, and EBF factors cooperate with MYOD1 in the induction of muscle-specific genes
	may act as a putative tumor suppressor gene in pediatric acute myeloid leukemia (AML)
	atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex
	is a critical regulator of inhibitory GABAergic neuronal development
	transcription factor involved in neuronal differentiation and maturation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	transcription of DSCR4 gene is regulated positively by binding of OLF1-like transcription factor EBF3, EBF4 and negatively by binding of E47-like transcription factor
	FOXG1 binds to mammalian-specific noncoding sequences to repress over 12 transcription factors expressed in early progenitors, including EBF2/3, DMRT3, DMRTA1, and EYA2
	bound directly to CDKN1A promoter and regulated transcription from both CDKN1A and CDKN1B promoters
	NEUROG2, NEUROD1, and EBF3 inducing MTURN
	binds directly to the promoter of ATP2A1 and synergises with MYOD1 in the induction of ATP2A1
	is a downstream transcriptional target of aristaless-related homeobox (ARX) and is thought to be transcriptionally repressed by ARX
	EBF3 is a PRDM8 target gene, and EBF3 is a key regulator of neuronal migration via multipolar-to-bipolar transition

cell & other

REGULATION

repressed by

aberrant methylation

ASSOCIATED DISORDERS

corresponding disease(s)

HADDS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   silenced in brain tumors

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	serves as an independent prognostic marker in gastric carcinoma
Therapy target

ANIMAL & CELL MODELS