Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2304
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box E1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXE1
Synonyms (NCBI Gene) Gene synonyms aliases
BAMLAZ, FKHL15, FOXE2, HFKH4, HFKL5, NMTC4, TITF2, TTF-2, TTF2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BAMLAZ, NMTC4
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
GLI2 Unknown 19360354
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602617 3806 ENSG00000178919
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bamforth-lazarus syndrome Bamforth syndrome, Bamforth-Lazarus syndrome rs104894110, rs28937575, rs104894111 24219130, 21177256, 20453517, 9697705, 12165566, 16884476
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Congenital hypothyroidism Congenital Hypothyroidism rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670 24219130
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Associations from Text Mining
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