Human Gene FOXE3 (ENST00000335071.4_4) from GENCODE V47lift37 |
|
 Sequence and Links to Tools and Databases
|
|
Comments and Description Text from UniProtKB
|
|---|
| |
ID: FOXE3_HUMAN
DESCRIPTION: RecName: Full=Forkhead box protein E3; AltName: Full=Forkhead-related protein FKHL12; AltName: Full=Forkhead-related transcription factor 8; Short=FREAC-8;
SUBCELLULAR LOCATION: Nucleus.
DEVELOPMENTAL STAGE: Expressed in the lens during embryonic development. Predominantly expressed in the anterior lens epithelium but with some expression posteriorly. Not expressed in brain in embryos.
DISEASE: Defects in FOXE3 are a cause of anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]; also known as anterior segment ocular dysgenesis (ASOD). ASMD consists of a range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Mature anterior segment anomalies are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.
DISEASE: Defects in FOXE3 are a cause of congenital primary aphakia (CPA) [MIM:610256]. Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severe ocular defects.
SIMILARITY: Contains 1 fork-head DNA-binding domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXE3";
| |
|
|
Primer design for this transcript
|
|
MalaCards Disease Associations
|
|---|
| |
MalaCards Gene Search: FOXE3
Diseases sorted by gene-association score: anterior segment dysgenesis 2, multiple subtypes* (1650), cataract 34, multiple types* (1230), aortic aneurysm, familial thoracic 11* (905), congenital aphakia* (419), peters-plus syndrome* (160), foxe3-related anterior segment mesenchymal dysgenesis* (100), foxe3-related cataracts, autosomal dominant* (100), sclerocornea (18), aniridia (12), anterior segment dysgenesis 1, multiple subtypes (12), aneurysm (8), aortic aneurysm (8), iris hypoplasia (6), lens disease (4), coloboma (2)
* = Manually curated disease association
| |
|
|
Comparative Toxicogenomics Database (CTD)
|
|---|
| |
The following chemicals interact with this gene
| |
|
|
 Common Gene Haplotype Alleles
|
|---|
| |
Press "+" in the title bar above to open this section.
| |
|
|
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
|
|
mRNA Secondary Structure of 3' and 5' UTRs
|
|---|
| |
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
| |
|
|
Protein Domain and Structure Information
|
|---|
| |
InterPro Domains: Graphical view of domain structure
IPR001766 - TF_fork_head
IPR018122 - TF_fork_head_CS
IPR011991 - WHTH_trsnscrt_rep_DNA-bd
Pfam Domains:
PF00250 - Forkhead domain
SCOP Domains:
46785 - "Winged helix" DNA-binding domain
ModBase Predicted Comparative 3D Structure on Q13461
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
| |
|
|
Orthologous Genes in Other Species
|
|---|
| |
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
| |
|
|
Gene Ontology (GO) Annotations with Structured Vocabulary
|
|---|
| |
Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding
Biological Process:
GO:0001654 eye development
GO:0002088 lens development in camera-type eye
GO:0002930 trabecular meshwork development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0009653 anatomical structure morphogenesis
GO:0030154 cell differentiation
GO:0042789 mRNA transcription from RNA polymerase II promoter
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0048468 cell development
GO:0050679 positive regulation of epithelial cell proliferation
GO:0061072 iris morphogenesis
GO:0061073 ciliary body morphogenesis
GO:0061303 cornea development in camera-type eye
GO:0071157 negative regulation of cell cycle arrest
GO:1902747 negative regulation of lens fiber cell differentiation
GO:2001111 positive regulation of lens epithelial cell proliferation
Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex
| |
|
|
Descriptions from all associated GenBank mRNAs
|
|---|
| |
AF275722 - Homo sapiens forkhead transcription factor (FOXE3) mRNA, complete cds.
KM433708 - Homo sapiens isolate MA forkhead box protein E3 (FOXE3) mRNA, complete cds.
JD538289 - Sequence 519313 from Patent EP1572962.
BC172358 - Synthetic construct Homo sapiens clone IMAGE:100069052, MGC:199063 forkhead box E3 (FOXE3) mRNA, encodes complete protein.
JD423145 - Sequence 404169 from Patent EP1572962.
JD151109 - Sequence 132133 from Patent EP1572962.
JD389183 - Sequence 370207 from Patent EP1572962.
JD156932 - Sequence 137956 from Patent EP1572962.
JD365599 - Sequence 346623 from Patent EP1572962.
JD336664 - Sequence 317688 from Patent EP1572962.
JD374696 - Sequence 355720 from Patent EP1572962.
JD527864 - Sequence 508888 from Patent EP1572962.
JD398409 - Sequence 379433 from Patent EP1572962.
JD551388 - Sequence 532412 from Patent EP1572962.
JD137620 - Sequence 118644 from Patent EP1572962.
JD151212 - Sequence 132236 from Patent EP1572962.
JD287443 - Sequence 268467 from Patent EP1572962.
JD318077 - Sequence 299101 from Patent EP1572962.
| |
|
|
Other Names for This Gene
|
|---|
| |
Alternate Gene Symbols: ENST00000335071.1, ENST00000335071.2, ENST00000335071.3, FKHL12, FOXE3_HUMAN, FREAC8, NM_012186, Q13461, Q5SVY9, Q9NQV9, uc317udt.1, uc317udt.2
UCSC ID: ENST00000335071.4_4
RefSeq Accession: NM_012186.3
Protein: Q13461
(aka FOXE3_HUMAN or FXE3_HUMAN)
| |
|
|
GeneReviews for This Gene
|
|---|
| |
GeneReviews article(s) related to gene FOXE3:
taa (Heritable Thoracic Aortic Disease Overview)
| |
|
|
Gene Model Information
|
|---|
| |
Click here
for a detailed description of the fields of the table above.
| |
|
|
Methods, Credits, and Use Restrictions
|
|---|
| |
Click here
for details on how this gene model was made and data restrictions if any.
| |
|
|
|
US Server
