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FLASH GENE

Symbol

FOXE3

contributors: mct/npt - updated : 26-10-2018

HGNC name	forkhead box E3
HGNC id	3808

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	APKC aphakia, congenital primary ASMD5 ocular anterior segment mesenchymal dysgenesis 5 CTRCT34 cataract 34, multiple types
Location	1p33      Physical location : 47.881.743 - 47.883.723
Synonym name	forkhead-related activator 8
	transcription factor-like 12
	forkhead, drosophila, homolog-like 12
Synonym symbol(s)	FREAC8, FKHL12, AAT11, ASGD2, CTRCT34

DNA

TYPE	functioning gene
STRUCTURE	1.98 kb     1 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012186 1 - 2000 NP_036318 33 319 - 2017 27669367

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 Visual eye lens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	developing eyelids, developing eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a forkhead (FH,winged helix) domain
	two loops-wings on the C-terminal side of helix-turn-helix homeo domain

HOMOLOGY

interspecies

homolog to Drosophila homeo forkhead DNA binding domain

Homologene

FAMILY

HNF-3 forkhead family of transcriptional activator

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	closure of the lens vesicle, promoting survival and proliferation while preventing epithelium differentiation
	transcription factor essential to lens development (Reis 2010)
	lens-specific transcription factor that has been associated with anterior segment ocular dysgenesis

CELLULAR PROCESS	cell life, proliferation/growth
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	PITX3 directly regulates FOXE3 during early lens development
	DNAJB1 is a transcriptional target of FOXE3 in a novel pathway that is crucial for the development of the anterior segment of the eye

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ASMD5 , APKC , CTRCT34

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

dyl ( mice)