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FOXE1

From Wikipedia, the free encyclopedia
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;OMA:FOXE1 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for FOXE1
Genomic location for FOXE1
Band9q22.33Start97,853,226bp[1]
End97,856,717bp[1]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
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 aprotein that in humans is encoded by theFOXE1gene.[4][5][6]

Location

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

Function

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This intronless gene belongs to theforkhead family oftranscription factors, which is characterized by a distinct forkhead domain. This gene functions as athyroidtranscription factor which likely plays a crucial role in thyroidmorphogenesis.

Clinical significance

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Mutations in this gene causeBamforth-Lazarus syndrome[8] and are associated with congenitalhypothyroidism andcleft palate withthyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cellepithelioma and hereditarysensory neuropathy type I.[6]

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

Tissue localization

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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

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References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000178919Ensembl, 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. ^ab"Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)".
  7. ^FOXE1
  8. ^abDixon 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

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External links

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(1) Basic domains
(1.1) Basicleucine 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
(3.1)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


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