• Gene id: 2301

Gene Summary

• Gene Symbol: FOXE3   Gene   UCSC   Ensembl
• Aliases: AAT11, ASGD2, CTRCT34, FKHL12, FREAC8
• Gene name: forkhead box E3
• Alternate names: forkhead box protein E3, FREAC-8, forkhead, drosophila, homolog-like 12, forkhead-related protein FKHL12, forkhead-related transcription factor 8,
• Gene location: 1p33 (47416284: 47418051)     Exons: 1     NC_000001.11
• Gene summary(Entrez): This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens format
• OMIM: 159559

Protein Summary

• Protein general information: Q13461  
  • Name: Forkhead box protein E3 (Forkhead related protein FKHL12) (Forkhead related transcription factor 8) (FREAC 8)
  • Length: 319  
  • Mass: 33234
• Sequence:

  MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPGRRRRRPLQRGKPPYS
  YIALIAMALAHAPGRRLTLAAIYRFITERFAFYRDSPRKWQNSIRHNLTLNDCFVKVPREPGNPGKGNYWTLDPA
  AADMFDNGSFLRRRKRFKRAELPAHAAAAPGPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFSVDSLVNL
  QPELAGLGAPEPPCCAAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRPGPGPLPAEPLLALAGPAAALGPLS
  PGEAYLRQPGFASGLERYL

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000334472
• Other Databases: GeneCards:  FOXE3  Malacards:  FOXE3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0042789	mRNA transcription by RNA polymerase II	IDA	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:2001111	positive regulation of lens epithelial cell proliferation	ISS	biological process
GO:0061072	iris morphogenesis	ISS	biological process
GO:0002088	lens development in camera-type eye	ISS	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0071157	negative regulation of cell cycle arrest	IMP	biological process
GO:2001111	positive regulation of lens epithelial cell proliferation	IMP	biological process
GO:0002088	lens development in camera-type eye	IMP	biological process
GO:1902747	negative regulation of lens fiber cell differentiation	ISS	biological process
GO:0061303	cornea development in camera-type eye	ISS	biological process
GO:0061073	ciliary body morphogenesis	ISS	biological process
GO:0002930	trabecular meshwork development	ISS	biological process
GO:0001654	eye development	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006366	transcription by RNA polymerase II	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005667	transcription regulator complex	IDA	cellular component
GO:2001111	positive regulation of lens epithelial cell proliferation	IEA	biological process
GO:0061072	iris morphogenesis	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043010	camera-type eye development	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:1902747	negative regulation of lens fiber cell differentiation	IEA	biological process
GO:0061303	cornea development in camera-type eye	IEA	biological process
GO:0061073	ciliary body morphogenesis	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0002930	trabecular meshwork development	IEA	biological process
GO:0001654	eye development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Anterior segment dysgenesis	KEGG:H01159
Congenital primary aphakia	KEGG:H00676
Cataract	KEGG:H01202
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Anterior segment dysgenesis	KEGG:H01159
Congenital primary aphakia	KEGG:H00676
Anterior segment dysgenesis	PMID:11159941
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R