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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bamforth-Lazarus syndrome Pathogenic rs104894110, rs28937575, rs104894111, rs2489998217 RCV000007402
RCV000007403
RCV003151709
RCV003152336
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplasia Anaplasia BEFREE 25950909
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 27796151
★☆☆☆☆
Found in Text Mining only
Bamforth syndrome Bamforth-Lazarus syndrome ORPHANET_DG 12165566, 9697705
★☆☆☆☆
Found in Text Mining only
Bamforth syndrome Bamforth-Lazarus syndrome UNIPROT_DG 12165566, 21177256, 24219130, 9697705
★☆☆☆☆
Found in Text Mining only
Bamforth syndrome Bamforth-Lazarus syndrome BEFREE 15367491, 21177256, 24219130
★☆☆☆☆
Found in Text Mining only
Bamforth syndrome Bamforth-Lazarus syndrome CTD_human_DG 16884476
★☆☆☆☆
Found in Text Mining only
Bamforth syndrome Bamforth-Lazarus syndrome GENOMICS_ENGLAND_DG 20453517, 24219130
★☆☆☆☆
Found in Text Mining only
Bamforth syndrome Bamforth-Lazarus syndrome CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Bamforth-Lazarus syndrome Bamforth-Lazarus Syndrome Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma Breast Carcinoma BEFREE 22521644
★☆☆☆☆
Found in Text Mining only