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FOXE1 (forkhead box E1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2304
Gene nameGene Name - the full gene name approved by the HGNC.
Forkhead box E1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FOXE1
SynonymsGene synonyms aliases
BAMLAZ, FKHL15, FOXE2, HFKH4, HFKL5, NMTC4, TITF2, TTF-2, TTF2
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MTAESGPPPPQPEVLATVKEERGETAAGAGVPGEATGRGAGGRRRKRPLQRGKPPYSYIA
LIAMAIAHAPERRLTLGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGR
PGKGNYWALDPNAEDMFE
SGSFLRRRKRFKRSDLSTYPAYMHDAAAAAAAAAAAAAAAAI
FPGAVPAARPPYPGAVYAGYAPPSLAAPPPVYYPAASPGPCRVFGLVPERPLSPELGPAP
SGPGGSCAFASAGAPATTTGYQPAGCTGARPANPSAYAAAYAGPDGAYPQGAGSAIFAAA
GRLAGPASPPAGGSSGGVETTVDFYGRTSPGQFGALGACYNPGGQLGGASAGAYHARHAA
AYPGGIDRFVSAM
Sequence length 373
Interactions View interactions
Associated diseases
Causal
Disease name Disease term 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, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
Nonmedullary thyroid carcinoma Nonmedullary Thyroid Carcinoma
Choanal atresia Choanal Atresia 24219130
Dwarfism Dwarfism
Follicular thyroid carcinoma Follicular thyroid carcinoma

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