InnateDB Protein
|
IDBP-78018.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
FOXE1
|
Protein Name
|
forkhead box E1 (thyroid transcription factor 2)
|
Synonyms
|
FKHL15; FOXE2; HFKH4; HFKL5; TITF2; TTF-2; TTF2;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000364265
|
InnateDB Gene
|
IDBG-78016 (FOXE1)
|
Protein Structure
|
|
Function |
Probable transcription factor. Could be involved in thyroid gland organogenesis.
|
Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00089}.
|
Disease Associations |
Bamforth-Lazarus syndrome (BLS) [MIM:241850]: A disease characterized by thyroid agenesis, cleft palate and choanal atresia. {ECO:0000269PubMed:12165566, ECO:0000269PubMed:9697705}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
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.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
Molecular Function |
Accession |
GO Term |
GO:0000981
|
sequence-specific DNA binding RNA polymerase II transcription factor activity
|
GO:0003677
|
DNA binding
|
GO:0003700
|
sequence-specific DNA binding transcription factor activity
|
GO:0043565
|
sequence-specific DNA binding
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001766
Transcription factor, fork head
|
PFAM |
PF00250
|
PRINTS |
PR00053
|
PIRSF |
|
SMART |
SM00339
|
TIGRFAMs |
|
Modification |
|
SwissProt |
O00358
|
PhosphoSite |
PhosphoSite-O00358
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
2304
|
UniGene |
Hs.159234
|
RefSeq |
NP_004464
|
HUGO |
HGNC:3806
|
OMIM |
602617
|
CCDS |
CCDS35078
|
HPRD |
06188
|
IMGT |
|
EMBL |
AL499604
CH471105
U89995
X94553
Y13386
|
GenPept |
AAC51294
CAA64246
CAA73816
CAI12803
EAW58856
|
|
|