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FLASH GENE

Symbol

EMX2

contributors: mct - updated : 21-05-2013

HGNC name	empty spiracles homeobox 2
HGNC id	3341

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EMX2 schizencephaly, severe
Location	10q26.1      Physical location : 119.301.955 - 119.309.056
Synonym name	empty spiracles homolog 2 (Drosophila)
	empty spiracles- like protein 2
	homeobox protein EMX2

DNA

TYPE	functioning gene
STRUCTURE	7.10 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   enhancer
text structure	enhancer for EMX2 expression unique to mammalian telencephalon

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004098 3 - 2908 - 252 - 2001 11549315 NM_001165924 2 - 2723 - 169 - 2001 11549315

EXPRESSION

Type

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 Nervous brain forebrain cerebral cortex     Reproductive female system uterus       Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, ageing

Text	cerebral cortex, post menopausal endometrium

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix DNA binding domain, 61 amino-acid homeobox

HOMOLOGY

interspecies	homolog to Drosophila empty spiracles (ems) 2
	homolog to murine Emx2
	homolog to C.elegans Wo2b8.1

intraspecies	homolog to EMX1
	homolog to VAX1

Homologene

FAMILY

EMX family of homeobox protein

CATEGORY

transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in brain development, normal growth and maturation of hippocampus
	functioning in combinations with OTX1/2 to specify cell fates in the developing central nervous system
	suppress choroid plexus development and promote neuroepithelial cell fate
	FGF8, FGF17 and EMX2 play distinct roles in the molecular regionalization of frontal cortex subdivisions (
	with FOXG1, inhibit gliogenesis and promote neuronogenesis
	may have important roles as a novel suppressor in human lung cancer
	HOXA10 and EMX2 are two transcription factors necessary for female Müllerian duct differentiation and development

CELLULAR PROCESS	nucleotide, transcription
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PAX6
	ODZ1 is the first EMX2 target gene

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EMX2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in endometrial cancer (see TSG10B) tumoral     --low   in lung cancer and this downregulation was associated with methylation of the EMX2 promoter

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS