FOXE1

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.^[4][5][6]

FOXE1
Identifiers
Aliases	FOXE1, FKHL15, FOXE2, HFKH4, HFKL5, TITF2, TTF-2, TTF2, NMTC4, forkhead box E1
External IDs	OMIM: 602617; MGI: 1353500; HomoloGene: 3291; GeneCards: FOXE1; OMA:FOXE1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q22.33 Start 97,853,226 bp[1] End 97,856,717 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of thyroid gland left lobe of thyroid gland gingival epithelium epithelium of nasopharynx oral cavity amniotic fluid mucosa of pharynx tonsil stromal cell of endometrium olfactory zone of nasal mucosa n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process positive regulation of transcription, DNA-templated soft palate development hair follicle morphogenesis thyroid hormone generation thyroid gland development negative regulation of transcription, DNA-templated pharynx development negative regulation of transcription by RNA polymerase II cell migration embryonic organ morphogenesis regulation of transcription, DNA-templated hard palate development transcription, DNA-templated thymus development roof of mouth development cranial skeletal system development regulation of transcription by RNA polymerase II anatomical structure morphogenesis cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2304 110805 Ensembl ENSG00000178919 n/a UniProt O00358 Q8R2I0 RefSeq (mRNA) NM_004473 NM_183298 RefSeq (protein) NP_004464 NP_899121 Location (UCSC) Chr 9: 97.85 – 97.86 Mb n/a PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Location

The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22^[7]

Function

This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.

Clinical significance

Mutations in this gene cause Bamforth-Lazarus syndrome^[8] and are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I.^[6]

The region surrounding the FOXE1 gene has shown association in the pathogenesis of cleft lip and palate with genome-wide levels of significance in linkage analysis studies with additional fine-mapping and replication.^[8]

Tissue localization

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.^[9]

Avian FOXE1 is also expressed in developing feathers.^[10]

See also

• FOX proteins