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{{Infobox_gene}}
{{PBB_Controls
'''Forkhead box protein E1''' is a [[protein]] that in humans is encoded by the ''FOXE1'' [[gene]].<ref name="pmid9169137">{{cite journal |vauthors=Chadwick BP, Obermayr F, Frischauf AM | title = FKHL15, a new human member of the forkhead gene family located on chromosome 9q22 | journal = Genomics | volume = 41 | issue = 3 | pages = 390–6 |date=Jul 1997 | pmid = 9169137 | pmc =  | doi = 10.1006/geno.1997.4692 }}</ref><ref name="pmid9697705">{{cite journal |vauthors=Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK | title = Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia | journal = Nat Genet | volume = 19 | issue = 4 | pages = 399–401 |date=Sep 1998 | pmid = 9697705 | pmc =  | doi = 10.1038/1294 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2304| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Location ==
{{GNF_Protein_box
The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22<ref>[http://ghr.nlm.nih.gov/dynamicImages/chromomap/FOXE1.jpeg FOXE1]</ref>
| image =
| image_source =
| PDB =  
| Name = Forkhead box E1 (thyroid transcription factor 2)
| HGNCid = 3806
| Symbol = FOXE1
| AltSymbols =; FKHL15; FOXE2; HFKH4; HFKL5; TITF2; TTF-2; TTF2
| OMIM = 602617
| ECnumber = 
| Homologene = 3291
| MGIid = 1353500
| GeneAtlas_image1 = PBB_GE_FOXE1_206912_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0000122 |text = negative regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}} {{GNF_GO|id=GO:0030878 |text = thyroid gland development}} {{GNF_GO|id=GO:0045893 |text = positive regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2304
    | Hs_Ensembl = ENSG00000178919
    | Hs_RefseqProtein = NP_004464
    | Hs_RefseqmRNA = NM_004473
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 99655357
    | Hs_GenLoc_end = 99658818
    | Hs_Uniprot = O00358
    | Mm_EntrezGene = 110805
    | Mm_Ensembl = ENSMUSG00000070990
    | Mm_RefseqmRNA = XM_975742
    | Mm_RefseqProtein = XP_980836
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 46365294
    | Mm_GenLoc_end = 46366409
    | Mm_Uniprot = Q8R2I0
  }}
}}
'''Forkhead box E1 (thyroid transcription factor 2)''', also known as '''FOXE1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2304| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
This intronless gene belongs to the [[FOX proteins|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]].
| section_title =  
 
| summary_text = 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. Mutations in this gene 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.<ref name="entrez">{{cite web | title = Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2304| accessdate = }}</ref>
== Clinical significance ==
}}
Mutations in this gene cause [[Bamforth-Lazarus syndrome]]<ref name="Dixon_2011">{{cite journal |vauthors=Dixon MJ, Marazita ML, Beaty TH, Murray JC | title = Cleft lip and palate: understanding genetic and environmental influences | journal = Nat. Rev. Genet. | volume = 12 | issue = 3 | pages = 167–78 |date=March 2011 | pmid = 21331089 | pmc = 3086810 | doi = 10.1038/nrg2933 }}</ref> 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 [[peripheral neuropathy|sensory neuropathy]] type I.<ref name="entrez" />
 
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.<ref name="Dixon_2011"/>
 
== Tissue localization ==
FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.<ref name="pmid9214635">{{cite journal
|vauthors=Zannini M, Avantaggiato V, Biffali E |title=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
|journal=EMBO J.
|volume=16
|issue=11
|pages=3185–97
|date=June 1997
|pmid=9214635
|pmc=1169936
|doi=10.1093/emboj/16.11.3185
|url=
|display-authors=etal}}</ref>
 
Avian FOXE1 is also expressed in developing feathers.<ref name="pmid 21999483">{{cite journal
|vauthors=Yaklichkin SY, Darnell DK, Pier MV |title=Accelerated evolution of 3'avian FOXE1 genes, and thyroid and feather specific expression of chicken FoxE1.
|journal=BMC Evol. Biol.  
|volume=11
|issue=302
|pages=3185–97
|date=Oct 2011
|pmid=21999483
|pmc=3207924
|doi=10.1186/1471-2148-11-302
|url=
|display-authors=etal}}</ref>


==See also==
==See also==
Line 58: Line 44:


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Wiese S, Emmerich D, Schröder B |title=The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern. |journal=DNA Cell Biol. |volume=16 |issue= 2 |pages= 165–71 |year= 1997 |pmid= 9052737 |doi=10.1089/dna.1997.16.165  |display-authors=etal}}
| citations =
*{{cite journal  |vauthors=Zannini M, Avantaggiato V, Biffali E |title=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. |journal=EMBO J. |volume=16 |issue= 11 |pages= 3185–97 |year= 1997 |pmid= 9214635 |doi= 10.1093/emboj/16.11.3185  | pmc=1169936 |display-authors=etal}}
*{{cite journal  | author=Wiese S, Emmerich D, Schröder B, ''et al.'' |title=The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern. |journal=DNA Cell Biol. |volume=16 |issue= 2 |pages= 165-71 |year= 1997 |pmid= 9052737 |doi=  }}
*{{cite journal  |vauthors=Macchia PE, Mattei MG, Lapi P |title=Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). |journal=Biochimie |volume=81 |issue= 5 |pages= 433–40 |year= 1999 |pmid= 10403172 |doi=10.1016/S0300-9084(99)80092-3 |display-authors=etal}}
*{{cite journal  | author=Chadwick BP, Obermayr F, Frischauf AM |title=FKHL15, a new human member of the forkhead gene family located on chromosome 9q22. |journal=Genomics |volume=41 |issue= 3 |pages= 390-6 |year= 1997 |pmid= 9169137 |doi= 10.1006/geno.1997.4692 }}
*{{cite journal  |vauthors=Wang JC, Waltner-Law M, Yamada K |title=Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta. |journal=J. Biol. Chem. |volume=275 |issue= 24 |pages= 18418–23 |year= 2000 |pmid= 10748198 |doi= 10.1074/jbc.M910211199 |display-authors=etal}}
*{{cite journal  | author=Zannini M, Avantaggiato V, Biffali E, ''et al.'' |title=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. |journal=EMBO J. |volume=16 |issue= 11 |pages= 3185-97 |year= 1997 |pmid= 9214635 |doi= 10.1093/emboj/16.11.3185 }}
*{{cite journal  |vauthors=Sequeira MJ, Morgan JM, Fuhrer D |title=Thyroid transcription factor-2 gene expression in benign and malignant thyroid lesions. |journal=Thyroid |volume=11 |issue= 11 |pages= 995–1001 |year= 2002 |pmid= 11762722 |doi= 10.1089/105072501753271662 |display-authors=etal}}
*{{cite journal | author=Clifton-Bligh RJ, Wentworth JM, Heinz P, ''et al.'' |title=Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. |journal=Nat. Genet. |volume=19 |issue= 4 |pages= 399-401 |year= 1998 |pmid= 9697705 |doi= 10.1038/1294 }}
*{{cite journal  |vauthors=Castanet M, Park SM, Smith A |title=A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. |journal=Hum. Mol. Genet. |volume=11 |issue= 17 |pages= 2051–9 |year= 2003 |pmid= 12165566 |doi=10.1093/hmg/11.17.2051 |display-authors=etal}}
*{{cite journal  | author=Macchia PE, Mattei MG, Lapi P, ''et al.'' |title=Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). |journal=Biochimie |volume=81 |issue= 5 |pages= 433-40 |year= 1999 |pmid= 10403172 |doi=  }}
*{{cite journal  |vauthors=Sequeira M, Al-Khafaji F, Park S |title=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. |journal=Thyroid |volume=13 |issue= 10 |pages= 927–32 |year= 2004 |pmid= 14611701 |doi= 10.1089/105072503322511328 |display-authors=etal}}
*{{cite journal  | author=Wang JC, Waltner-Law M, Yamada K, ''et al.'' |title=Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta. |journal=J. Biol. Chem. |volume=275 |issue= 24 |pages= 18418-23 |year= 2000 |pmid= 10748198 |doi= 10.1074/jbc.M910211199 }}
*{{cite journal  |vauthors=Romanelli MG, Tato' L, Lorenzi P, Morandi C |title=Nuclear localization domains in human thyroid transcription factor 2. |journal=Biochim. Biophys. Acta |volume=1643 |issue= 1-3 |pages= 55–64 |year= 2004 |pmid= 14654228 |doi=  10.1016/j.bbamcr.2003.09.002}}
*{{cite journal  | author=Sequeira MJ, Morgan JM, Fuhrer D, ''et al.'' |title=Thyroid transcription factor-2 gene expression in benign and malignant thyroid lesions. |journal=Thyroid |volume=11 |issue= 11 |pages= 995-1001 |year= 2002 |pmid= 11762722 |doi= 10.1089/105072501753271662 }}
*{{cite journal  |vauthors=Eichberger T, Regl G, Ikram MS |title=FOXE1, a new transcriptional target of GLI2 is expressed in human epidermis and basal cell carcinoma. |journal=J. Invest. Dermatol. |volume=122 |issue= 5 |pages= 1180–7 |year= 2004 |pmid= 15140221 |doi= 10.1111/j.0022-202X.2004.22505.x |display-authors=etal}}
*{{cite journal  | author=Castanet M, Park SM, Smith A, ''et al.'' |title=A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. |journal=Hum. Mol. Genet. |volume=11 |issue= 17 |pages= 2051-9 |year= 2003 |pmid= 12165566 |doi=  }}
*{{cite journal  |vauthors=Tonacchera M, Banco M, Lapi P |title=Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. |journal=Thyroid |volume=14 |issue= 8 |pages= 584–8 |year= 2005 |pmid= 15320969 |doi= 10.1089/1050725041692864 |display-authors=etal}}
*{{cite journal  | author=Sequeira M, Al-Khafaji F, Park S, ''et al.'' |title=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. |journal=Thyroid |volume=13 |issue= 10 |pages= 927-32 |year= 2004 |pmid= 14611701 |doi= 10.1089/105072503322511328 }}
*{{cite journal  |vauthors=Brancaccio A, Minichiello A, Grachtchouk M |title=Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis. |journal=Hum. Mol. Genet. |volume=13 |issue= 21 |pages= 2595–606 |year= 2005 |pmid= 15367491 |doi= 10.1093/hmg/ddh292 |display-authors=etal}}
*{{cite journal  | author=Romanelli MG, Tato' L, Lorenzi P, Morandi C |title=Nuclear localization domains in human thyroid transcription factor 2. |journal=Biochim. Biophys. Acta |volume=1643 |issue= 1-3 |pages= 55-64 |year= 2004 |pmid= 14654228 |doi=  }}
*{{cite journal  |vauthors=Watkins WJ, Harris SE, Craven MJ |title=An investigation into FOXE1 polyalanine tract length in premature ovarian failure. |journal=Mol. Hum. Reprod. |volume=12 |issue= 3 |pages= 145–9 |year= 2006 |pmid= 16481406 |doi= 10.1093/molehr/gal017 |display-authors=etal}}
*{{cite journal  | author=Eichberger T, Regl G, Ikram MS, ''et al.'' |title=FOXE1, a new transcriptional target of GLI2 is expressed in human epidermis and basal cell carcinoma. |journal=J. Invest. Dermatol. |volume=122 |issue= 5 |pages= 1180-7 |year= 2004 |pmid= 15140221 |doi= 10.1111/j.0022-202X.2004.22505.x }}
*{{cite journal  |vauthors=Baris I, Arisoy AE, Smith A |title=A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue= 10 |pages= 4183–7 |year= 2006 |pmid= 16882747 |doi= 10.1210/jc.2006-0405 |display-authors=etal}}
*{{cite journal  | author=Tonacchera M, Banco M, Lapi P, ''et al.'' |title=Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. |journal=Thyroid |volume=14 |issue= 8 |pages= 584-8 |year= 2005 |pmid= 15320969 |doi= 10.1089/1050725041692864 }}
*{{cite journal  | author=Brancaccio A, Minichiello A, Grachtchouk M, ''et al.'' |title=Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis. |journal=Hum. Mol. Genet. |volume=13 |issue= 21 |pages= 2595-606 |year= 2005 |pmid= 15367491 |doi= 10.1093/hmg/ddh292 }}
*{{cite journal  | author=Watkins WJ, Harris SE, Craven MJ, ''et al.'' |title=An investigation into FOXE1 polyalanine tract length in premature ovarian failure. |journal=Mol. Hum. Reprod. |volume=12 |issue= 3 |pages= 145-9 |year= 2006 |pmid= 16481406 |doi= 10.1093/molehr/gal017 }}
*{{cite journal  | author=Baris I, Arisoy AE, Smith A, ''et al.'' |title=A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue= 10 |pages= 4183-7 |year= 2006 |pmid= 16882747 |doi= 10.1210/jc.2006-0405 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|FOXE1+protein,+human}}
* {{MeshName|FOXE1+protein,+human}}
* {{UCSC genome browser|FOXE1}}
* {{UCSC gene details|FOXE1}}
{{Transcription factors|g3}}
[[Category:Forkhead transcription factors]]


{{NLM content}}
{{gene-9-stub}}
{{protein-stub}}
{{Transcription factors}}
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 16:36, 25 November 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[1][2][3]

Location

The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22[4]

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[5] 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.[3]

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.[5]

Tissue localization

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.[6]

Avian FOXE1 is also expressed in developing feathers.[7]

See also

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)".
  4. ↑ FOXE1
  5. ↑ 5.0 5.1 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.
  6. ↑ 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.
  7. ↑ 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. doi:10.1186/1471-2148-11-302. PMC 3207924. PMID 21999483.

Further reading

External links


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