FOXE3 Gene
protein-coding GIFtS: 48
GCID: GC01P047881
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forkhead box E3 (Previous symbol: FKHL12)
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Aliases for FOXE3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Forkhead Box E31 2 | | FREAC-82 3 | | FKHL121 2 3 5 | | Forkhead Box Protein E32 | | FREAC81 2 3 | | Forkhead, Drosophila, Homolog-Like 122 | | Forkhead-Related Protein FKHL122 3 | | ASMD5 | | Forkhead-Related Transcription Factor 82 3 | | |
Export aliases for FOXE3 gene to outside databasesPrevious GC identifers: GC01P047507 GC01P046770 GC01P047240 GC01P047251 GC01P047593 GC01P047654 GC01P045998 |
Summaries for FOXE3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for FOXE3: This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinctforkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role invertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis andcongenital primary aphakia. (provided by RefSeq, Dec 2009) Gene Wiki entry for FOXE3
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Genomic Views for FOXE3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the FOXE3 gene promoter: GR RP58 HOXA3 Nkx2-5 c-Ets-1 CREB CP2 FOXO4 deltaCREB Ik-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for FOXE3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXE3 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p32 Ensembl cytogenetic band: 1p33 HGNC cytogenetic band: 1p32FOXE3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P047881: view genomic region
(about GC identifiers)
Start:
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47,881,744 bp from pter |
End:
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47,883,724 bp from pter |
Size:
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1,981 bases |
Orientation:
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plus strand |
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Proteins for FOXE3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: FOXE3_HUMAN, Q13461 (See
protein sequence)Recommended Name: Forkhead box protein E3 Size: 319 amino acids; 33234 Da
Subcellular location: Nucleus
Developmental stage: Expressed in the lens during embryonic development. Predominantly expressed in the anterior lensepithelium but with some expression posteriorly. Not expressed in brain in embryos
Secondary accessions: Q5SVY9 Q9NQV9Explore the universe of human proteins at neXtProt for FOXE3: NX_Q13461
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13461 FOXE3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036318.1 ENSEMBL proteins: ENSP00000334472 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
FOXE3 for ontologies About GeneDecksing
FOXE3 Antibody Products: Assay Products for FOXE3: |
Protein
Domains / Families for FOXE3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FOXE3 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q13461ProtoNet protein and cluster: Q13461 UniProtKB/Swiss-Prot: FOXE3_HUMAN, Q13461Similarity: Contains 1 fork-head DNA-binding domain |
Function for FOXE3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: Genatlas biochemistry entry for FOXE3:transcription factor-like 12,with a Drosophila homeo forkhead DNA binding domain homolog
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE3 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE3 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003690 | double-stranded DNA binding |
IBA | -- | | GO:0003700 | sequence-specific DNA binding transcription factor activity |
TAS | 8825632 | | GO:0003705 | RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity |
IBA | -- | | GO:0008134 | transcription factor binding |
IBA | -- | | GO:0008301 | DNA binding, bending |
IBA | -- |
FOXE3 for ontologies About GeneDecksing
Animal Models: Mouse knock-outs for FOXE3: Foxe3tm1Mjam Foxe3tm1Pca 4 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Foxe3):
FOXE3 for phenotypes About GeneDecksing
|
Pathways & Interactions for FOXE3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FOXE3
Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001654 | eye development |
-- | -- | | GO:0002089 | lens morphogenesis in camera-type eye |
IBA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
NAS | -- | | GO:0006366 | transcription from RNA polymerase II promoter |
IDA | 10652278 | | GO:0006590 | thyroid hormone generation |
IBA | -- |
FOXE3 for ontologies About GeneDecksing
|
Drugs & Compounds for FOXE3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for FOXE3 Search CenterWatch for drugs/clinical trials and news about FOXE3 
|
Transcripts for FOXE3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for FOXE3 gene: NM_012186.2 Unigene Cluster for FOXE3: Forkhead box E3 Hs.112968 [show with all ESTs]Unigene Representative Sequence: AF2757221 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000335071(uc001crk.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE3 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FOXE3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: FOXE3 (NM_012186) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FOXE3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXE3  |
Additional cDNA sequence: AF275722.1 2 DOTS entries: DT.103174 DT.99997576 9 AceView cDNA sequences: BM670228 CD674161 CD675500 AA641009 AF275722 BM712165 NM_012186 AA621310 BX090569 GeneLoc Exon Structure
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Expression for FOXE3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FOXE3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACTTACTTGC
About this image See FOXE3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for FOXE3
SOURCE GeneReport for Unigene cluster: Hs.112968 SABiosciences Custom PCR Arrays for FOXE3
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FOXE3 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FOXE3 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOXE3 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXE3 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE3 |
Orthologs for FOXE3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for FOXE3 gene from 3/12 species (see all 12) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
FOXE16 |
Uncharacterized protein |
43(a) |
1 ↔ 1 |
8(22697482-22698342) |
lizard (Anolis carolinensis) |
Reptilia |
FOXE16 |
-- |
48(a) |
1 ↔ 1 |
GL343249.1(1609961-1611015) |
zebrafish (Danio rerio) |
Actinopterygii |
foxe36 |
forkhead box E3 |
30(a) |
1 ↔ 1 |
8(20206672-20208317) |
ENSEMBL Gene Tree for FOXE3 (if available) TreeFam Gene Tree for FOXE3 (if available)  |
Paralogs for FOXE3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for FOXE3 gene
- FOXF12 FOXA22 FOXD4L12 FOXF22 FOXC22 FOXB12 FOXI22 FOXC12
- FOXD4L22 FOXQ12 FOXD4L32 FOXA32 FOXD12 FOXD32 FOXD4L52 FOXD4L42
- FOXE12 FOXL12 FOXA12 FOXI12 FOXB22 FOXD4L62 FOXS12 FOXL22
- FOXD22 FOXD42
14 SIMAP similar genes for FOXE3 using alignment to 1 protein entry: FOXE3_HUMAN:FOXC1 FOXD4L5 FOXD4L3 FOXE1 FOXD2 FOXD4 FOXD4L1 FOXD4L2 FOXD4L4 FOXD4L6 FOXA1 FOXA2 FOXD1 FOXA3
FOXE3 for paralogs About GeneDecksing
|
Genomic Variants for FOXE3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for FOXE3 (47881744 - 47883724 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for FOXE3: -- Human Gene Mutation Database (HGMD): FOXE3
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FOXE3 |
|
Disorders
/ Diseases for FOXE3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FOXE3 for disorders About GeneDecksing
OMIM gene information: 601094 OMIM disorders: 107250 610256 UniProtKB/Swiss-Prot: FOXE3_HUMAN, Q13461
Defects in FOXE3 are a cause of anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]; also known asanterior segment ocular dysgenesis (ASOD). ASMD consists of a range of developmental defects in structures at thefront of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cellsthat give rise to the cornea, iris, and other components of the anterior chamber during eye development. Matureanterior segment anomalies are associated with an increased risk of glaucoma and corneal opacity. Conditions fallingwithin the phenotypic spectrum include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome,Peters anomaly, and iridogoniodysgenesis Defects in FOXE3 are a cause of congenital primary aphakia (CPA) [MIM:610256]. Aphakia is a rare congenitaleye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, inaccordance with the severity of defects of the ocular tissues, whose development requires the initial presence of alens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that preventsthe formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of theanterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesiclehas developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severeocular defects 11 diseases for FOXE3: About MalaCardsanterior segment mesenchymal dysgenesis peters anomaly congenital aphakia iridogoniodysgenesis aniridia congenital cataracts cataract coloboma glaucoma microphthalmia thyroiditis 3 diseases from the University of Copenhagen DISEASES database for FOXE3:Congenital aphakia Microphthalmia Aniridia Human Genome Epidemiology (HuGE) Navigator: FOXE3 (1 document) Export disorders for FOXE3 gene to outside databases
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Publications for FOXE3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FOXE3 gene, integrated from 9 sources (see all 16): (articles sorted by number of sources associating them with FOXE3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). (PubMed id 8825632)1, 2, 3 Larsson C....Carlsson P. (1995)
- Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. (PubMed id 19708017)1, 2 Iseri S.U....Ragge N.K. (2009)
- Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. (PubMed id 16826526)1, 2 Valleix S.... Kantelip B. (2006)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. (PubMed id 11159941)1, 2 Semina E.V.... Jamrich M. (2001)
- Growth inhibition of human lens epithelial cells by sh ort hairpin RNA in transcription factor forkhead box E3 (FOXE3). (PubMed id 22527307)1 Wang Y....Huang Y. (2012)
- A novel, non-stop mutation in FOXE3 causes an autosom al dominant form of variable anterior segment dysgenesis including Peters anoma ly. (PubMed id 21150893)1 Doucette L....Young T.L. (2011)
- Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. (PubMed id 22204637)1 Jimenez N.L....Slavotinek A.M. (2011)
- Homozygous FOXE3 mutations cause non-syndromic, bilat eral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. (PubMed id 20664696)1 Ali M....Zenteno J.C. (2010)
- Identification of dominant FOXE3 and PAX6 mutations i n patients with congenital cataract and aniridia. (PubMed id 20806047)1 BrAcmond-Gignac D....Semina E.V. (2010)
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External Searches for FOXE3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FOXE3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FOXE3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FOXE3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for FOXE3 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXE3 |
|
| | |
About This Section
| Patent Information for FOXE3 gene: Search GeneIP for patents involving FOXE3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for FOXE3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXE3 |
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