FOXE1

Mammalian protein found in Homo sapiens
FOXE1
Identifiers
AliasesFOXE1, FKHL15, FOXE2, HFKH4, HFKL5, TITF2, TTF-2, TTF2, NMTC4, forkhead box E1
External IDsOMIM: 602617 MGI: 1353500 HomoloGene: 3291 GeneCards: FOXE1
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for FOXE1
Genomic location for FOXE1
Band9q22.33Start97,853,226 bp[1]
End97,856,717 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • oral cavity

  • amniotic fluid

  • thymus

  • stromal cell of endometrium

  • superior surface of tongue

  • hair follicle

  • vulva

  • body of tongue
    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
SpeciesHumanMouse
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 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178919 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Chadwick BP, Obermayr F, Frischauf AM (Jul 1997). "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22". Genomics. 41 (3): 390–6. doi:10.1006/geno.1997.4692. PMID 9169137.
  5. ^ Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK (Sep 1998). "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia". Nat Genet. 19 (4): 399–401. doi:10.1038/1294. PMID 9697705. S2CID 20334877.
  6. ^ a b "Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)".
  7. ^ FOXE1
  8. ^ a b Dixon MJ, Marazita ML, Beaty TH, Murray JC (March 2011). "Cleft lip and palate: understanding genetic and environmental influences". Nat. Rev. Genet. 12 (3): 167–78. doi:10.1038/nrg2933. PMC 3086810. PMID 21331089.
  9. ^ Zannini M, Avantaggiato V, Biffali E, et al. (June 1997). "TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation". EMBO J. 16 (11): 3185–97. doi:10.1093/emboj/16.11.3185. PMC 1169936. PMID 9214635.
  10. ^ Yaklichkin SY, Darnell DK, Pier MV, et al. (Oct 2011). "Accelerated evolution of 3'avian FOXE1 genes, and thyroid and feather specific expression of chicken FoxE1". BMC Evol. Biol. 11 (302): 3185–97. Bibcode:2011BMCEE..11..302Y. doi:10.1186/1471-2148-11-302. PMC 3207924. PMID 21999483.

Further reading

  • Wiese S, Emmerich D, Schröder B, et al. (1997). "The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern". DNA Cell Biol. 16 (2): 165–71. doi:10.1089/dna.1997.16.165. PMID 9052737. S2CID 20745762.
  • Zannini M, Avantaggiato V, Biffali E, et al. (1997). "TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation". EMBO J. 16 (11): 3185–97. doi:10.1093/emboj/16.11.3185. PMC 1169936. PMID 9214635.
  • Macchia PE, Mattei MG, Lapi P, et al. (1999). "Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)". Biochimie. 81 (5): 433–40. doi:10.1016/S0300-9084(99)80092-3. PMID 10403172.
  • Wang JC, Waltner-Law M, Yamada K, et al. (2000). "Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta". J. Biol. Chem. 275 (24): 18418–23. doi:10.1074/jbc.M910211199. PMID 10748198.
  • Sequeira MJ, Morgan JM, Fuhrer D, et al. (2002). "Thyroid transcription factor-2 gene expression in benign and malignant thyroid lesions". Thyroid. 11 (11): 995–1001. doi:10.1089/105072501753271662. PMID 11762722.
  • Castanet M, Park SM, Smith A, et al. (2003). "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate". Hum. Mol. Genet. 11 (17): 2051–9. doi:10.1093/hmg/11.17.2051. PMID 12165566.
  • Sequeira M, Al-Khafaji F, Park S, et al. (2004). "Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis". Thyroid. 13 (10): 927–32. doi:10.1089/105072503322511328. PMID 14611701.
  • Romanelli MG, Tato' L, Lorenzi P, Morandi C (2004). "Nuclear localization domains in human thyroid transcription factor 2". Biochim. Biophys. Acta. 1643 (1–3): 55–64. doi:10.1016/j.bbamcr.2003.09.002. PMID 14654228.
  • Eichberger T, Regl G, Ikram MS, et al. (2004). "FOXE1, a new transcriptional target of GLI2 is expressed in human epidermis and basal cell carcinoma". J. Invest. Dermatol. 122 (5): 1180–7. doi:10.1111/j.0022-202X.2004.22505.x. PMID 15140221.
  • Tonacchera M, Banco M, Lapi P, et al. (2005). "Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate". Thyroid. 14 (8): 584–8. doi:10.1089/1050725041692864. PMID 15320969.
  • Brancaccio A, Minichiello A, Grachtchouk M, et al. (2005). "Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis". Hum. Mol. Genet. 13 (21): 2595–606. doi:10.1093/hmg/ddh292. PMID 15367491.
  • Watkins WJ, Harris SE, Craven MJ, et al. (2006). "An investigation into FOXE1 polyalanine tract length in premature ovarian failure". Mol. Hum. Reprod. 12 (3): 145–9. doi:10.1093/molehr/gal017. PMID 16481406.
  • Baris I, Arisoy AE, Smith A, et al. (2006). "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis". J. Clin. Endocrinol. Metab. 91 (10): 4183–7. doi:10.1210/jc.2006-0405. PMID 16882747.

External links

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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