Gene Gene information from NCBI Gene database.
Entrez ID 2304
Gene name Forkhead box E1
Gene symbol FOXE1
Synonyms (NCBI Gene)
BAMLAZFKHL15FOXE2HFKH4HFKL5NMTC4TITF2TTF-2TTF2
Chromosome 9
Chromosome location 9q22.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
386
miRTarBase ID miRNA Experiments Reference
MIRT028762 hsa-miR-26b-5p Microarray 19088304
MIRT709804 hsa-miR-6819-3p HITS-CLIP 19536157
MIRT709803 hsa-miR-6877-3p HITS-CLIP 19536157
MIRT709802 hsa-miR-146a-3p HITS-CLIP 19536157
MIRT709801 hsa-miR-4766-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
GLI2 Unknown 19360354
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 9169137
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 24219130
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602617 3806 ENSG00000178919
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00358
Protein 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)
Protein function Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 52 138 Forkhead domain Domain
Tissue specificity 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
MTAESGPPPPQPEVLATVKEERGETAAGAGVPGEATGRGAGGRRRKRPLQRGKPPYSYIA
LIAMAIAHAPERRLTLGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGR
PGKGNYWALDPNAEDMFE
SGSFLRRRKRFKRSDLSTYPAYMHDAAAAAAAAAAAAAAAAI
FPGAVPAARPPYPGAVYAGYAPPSLAAPPPVYYPAASPGPCRVFGLVPERPLSPELGPAP
SGPGGSCAFASAGAPATTTGYQPAGCTGARPANPSAYAAAYAGPDGAYPQGAGSAIFAAA
GRLAGPASPPAGGSSGGVETTVDFYGRTSPGQFGALGACYNPGGQLGGASAGAYHARHAA
AYPGGIDRFVSAM
Sequence length 373
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bamforth-Lazarus syndrome Pathogenic rs104894110, rs28937575, rs104894111, rs2489998217 RCV000007402
RCV000007403
RCV003151709
RCV003152336
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FOXE1-related disorder Uncertain significance; Benign; Likely benign rs774373703, rs762571620, rs1438380700, rs71369530 RCV003417019
RCV003942103
RCV003954920
RCV003983687
Thyroid cancer, nonmedullary, 4 Conflicting classifications of pathogenicity; Likely benign rs538912281, rs71369530 RCV000190467
RCV002499014
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31558162
Adrenal Gland Diseases Associate 23510370
Bamforth syndrome Associate 24219130
Breast Neoplasms Associate 18628296
Carcinogenesis Associate 27852061, 31846430
Carcinoma Adenoid Cystic Associate 21692051
Carcinoma Basal Cell Associate 15140221
Carcinoma Squamous Cell Associate 37442189
Choanal Atresia Associate 24219130
Cleft Lip Associate 19521098, 20583170, 28662356, 29124805, 39840623