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FLASH GENE

Symbol

FOXE1

contributors: mct/npt - updated : 29-08-2008

HGNC name	forkhead box E1 (thyroid transcription factor 2)
HGNC id	3806

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HTAT hypothyroidism, athyroidal, with cleft palate
Location	9q22.33      Physical location : 100.615.536 - 100.618.986
Synonym name	transcription factor-like 15
	forkhead (Drosophila)-like 15
	thyroid transcription factor-2
	forkhead box E2
	HNF-3/fork head-like protein 5
Synonym symbol(s)	FKHL15, TITF2, TTF2, FOXE2, HFKH4, HFKL5, TTF-2, TTF2

DNA

TYPE	functioning gene
STRUCTURE	3.46 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D9S780 - TMOD1 - NCBP1 - XPA XPA - FOXE1 - D9S180 - qter
Authors	Chadwick (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 1 - 3473 isoform 1 - 373 - Macchia (1999), Carre (2007)

EXPRESSION

Type	restricted

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 Digestive intestine large intestine colon       intestine small intestine         liver         Endocrine thyroid       highly Skin/Tegument skin

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Skin/Tegument hair follicle cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	the developing thyroid, in most of the foregut endoderm, and in craniopharyngeal ectoderm, including Rathke pouch, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a forkhead (FH, winged helix ) domain
	two loops-wings on the C-terminal side of helix-turn-helix (HLH) homeo domain
	a stretch of alanine GCC repeat
	two putative nuclear localization signals (NLS)

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
text	expression in in the epithelium undergoing fusion between the medial nasal and maxillary processes (Moreno 2009)

basic FUNCTION	embryonic transcriptional regulator of thyroid development
	maybe a negative controller of thyroid specific gene expression
	putative role in mediating HH signaling in the epidermis downstream of GLI2

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	target of the SHH/GLI pathway in hair follicle morphogenesis (target GLI2)
	potentially regulating expression of thyroid specific genes during development

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HTAT

Susceptibility

nonsyndromic orofacial clefting to thyroid dysgenesis to permanent primary congenital hypothyroidism to thyroid cancer

Variant & Polymorphism repeat	genotype 16/16 and 16/14 protecting against thyroid dysgenesis
	variations in the length of the Ala-tract could at least partially explain the etiology of primary congenital hypothyroidism (Santarpia 2007)
	association between thyroid cancer and rs965513 is mediated through processes involving FOXE1(Gudmundsson 2009)
	common variants have a substantial impact on the occurrence of cleft lip and palate (Moreno 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS