FOXE1
entrez
2304
canonical
uniprot
O00358
canonical
ensembl
ENSG00000178919
resolver
ensp
ENSP00000364265
resolver
enst
ENST00000375123
resolver
genesymbol
FOXE1
resolver
genesymbol_syn
FKHL15
resolver
genesymbol_syn
FOXE2
resolver
genesymbol_syn
TITF2
resolver
genesymbol_syn
TTF2
resolver
hgnc
HGNC:3806
resolver
uniprot
O75765
resolver
uniprot
Q5T109
resolver
uniprot
Q99526
resolver
uniprot_entry
FOXE1_HUMAN
resolver
uniprot_sec
O75765
resolver
uniprot_sec
Q5T109
resolver
uniprot_sec
Q99526
resolver
amino_acid_sequence
MTAESGPPPPQPEVLATVKEERGETAAGAGVPGEATGRGAGGRRRKRPLQRGKPPYSYIALIAMAIAHAPERRLTLGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPGKGNYWALDPNAEDMFESGSFLRRRKRFKRSDLSTYPAYMHDAAAAAAAAAAAAAAAAIFPGAVPAARPPYPGAVYAGYAPPSLAAPPPVYYPAASPGPCRVFGLVPERPLSPELGPAPSGPGGSCAFASAGAPATTTGYQPAGCTGARPANPSAYAAAYAGPDGAYPQGAGSAIFAAAGRLAGPASPPAGGSSGGVETTVDFYGRTSPGQFGALGACYNPGGQLGGASAGAYHARHAAAYPGGIDRFVSAM
uniprot
proteins
disease_involvement
DISEASE: Bamforth-Lazarus syndrome (BAMLAZ) [MIM:241850]: An autosomal recessive disease characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. {ECO:0000269|PubMed:12165566, ECO:0000269|PubMed:21177256, ECO:0000269|PubMed:24219130, ECO:0000269|PubMed:9697705}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Thyroid cancer, non-medullary, 4 (NMTC4) [MIM:616534]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:25381600}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
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 transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression. {ECO:0000269|PubMed:12165566, ECO:0000269|PubMed:16882747, ECO:0000269|PubMed:20094846, ECO:0000269|PubMed:20484477, ECO:0000269|PubMed:21177256, ECO:0000269|PubMed:24219130, ECO:0000269|PubMed:25381600, ECO:0000269|PubMed:9697705}.
uniprot
proteins
mass_dalton
38076
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250}.
uniprot
proteins
pubmed
10403172
uniprot
proteins
pubmed
12165566
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
16882747
uniprot
proteins
pubmed
20094846
uniprot
proteins
pubmed
20484477
uniprot
proteins
pubmed
21177256
uniprot
proteins
pubmed
24219130
uniprot
proteins
pubmed
25381600
uniprot
proteins
pubmed
9052737
uniprot
proteins
pubmed
9169137
uniprot
proteins
pubmed
9697705
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21177256}.
uniprot
proteins