• Gene id: 2304

Gene Summary

• Gene Symbol: FOXE1   Gene   UCSC   Ensembl
• Aliases: FKHL15, FOXE2, HFKH4, HFKL5, NMTC4, TITF2, TTF-2, TTF2
• Gene name: forkhead box E1
• Alternate names: forkhead box protein E1, HNF-3/fork head-like protein 5, forkhead box protein E2, forkhead, drosophila, homolog-like 15, forkhead-related protein FKHL15, thyroid transcription factor 2,
• Gene location: 9q22.33 (97853225: 97856716)     Exons: 1     NC_000009.12
• Gene summary(Entrez): This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor t
• OMIM: 173445

Protein Summary

• Protein general information: O00358  
  • Name: Forkhead box protein E1 (Forkhead box protein E2) (Forkhead related protein FKHL15) (HFKH4) (HNF 3/fork head like protein 5) (HFKL5) (Thyroid transcription factor 2) (TTF 2)
  • Length: 373  
  • Mass: 38076
  • Tissue specificity: Detected in adult brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, heart, colon, small intestine testis and thymus. Expression was strongest in heart and pancreas.
• Sequence:

  MTAESGPPPPQPEVLATVKEERGETAAGAGVPGEATGRGAGGRRRKRPLQRGKPPYSYIALIAMAIAHAPERRLT
  LGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPGKGNYWALDPNAEDMFESGSFLRRRKRFK
  RSDLSTYPAYMHDAAAAAAAAAAAAAAAAIFPGAVPAARPPYPGAVYAGYAPPSLAAPPPVYYPAASPGPCRVFG
  LVPERPLSPELGPAPSGPGGSCAFASAGAPATTTGYQPAGCTGARPANPSAYAAAYAGPDGAYPQGAGSAIFAAA
  GRLAGPASPPAGGSSGGVETTVDFYGRTSPGQFGALGACYNPGGQLGGASAGAYHARHAAAYPGGIDRFVSAM

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000364265
• Other Databases: GeneCards:  FOXE1  Malacards:  FOXE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
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:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043565	sequence-specific DNA binding	IMP	molecular function
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:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016477	cell migration	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006590	thyroid hormone generation	IEA	biological process
GO:0048562	embryonic organ morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:1904888	cranial skeletal system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	NAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048538	thymus development	IEP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0030878	thyroid gland development	IMP	biological process
GO:0009653	anatomical structure morphogenesis	NAS	biological process
GO:0060023	soft palate development	IMP	biological process
GO:0060022	hard palate development	IMP	biological process
GO:0048562	embryonic organ morphogenesis	ISS	biological process
GO:0006590	thyroid hormone generation	ISS	biological process
GO:0060465	pharynx development	IEP	biological process
GO:0031069	hair follicle morphogenesis	ISS	biological process
GO:0030878	thyroid gland development	IEP	biological process
GO:0016477	cell migration	ISS	biological process

Diseases

Associated diseases	References
Bamforth-Lazarus syndrome	KEGG:H01040
Bamforth-Lazarus syndrome	KEGG:H01040
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray