FOXE3 - forkhead box E3 Gene

Also Known as AAT11; ASGD2; FKHL12; FREAC8; CTRCT34

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2301

About FOXE3

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:47,416,285-47,418,052 (from NCBI)

This gene has 1 transcript (splice variant), 46 orthologues, 42 paralogues and is associated with 10 phenotypes.

Summary

This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]

FOXE3 Products (1)

mRNA	Protein	Name
NM_012186.3	NP_036318.1	forkhead box protein E3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	25504734	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	10652278	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in eye development	IMP IMP: Inferred from mutant phenotype	27218149	GOA
involved in lens development in camera-type eye	IMP IMP: Inferred from mutant phenotype	27218149	GOA
involved in mRNA transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	27218149	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	22527307	GOA
involved in positive regulation of lens epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	22527307	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	22527307	GOA
acts upstream of or within transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10652278	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	25504734	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	10652278	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOXE3 Protein Structure

Forkhead

0
100
200
300
319 a.a.

Protein Preferred Names	Protein Names
forkhead box protein E3	FREAC-8

Related Diseases

Diseases	Alias
Anterior Segment Dysgenesis 2	Congenital Primary Aphakia Aphakia, Congenital Primary Cpa ASGD2 Cpak Anterior Segment Dysgenesis 2, Multiple Subtypes Dysgenesis, Anterior Segment, Type 2
Cataract 34, Multiple Types	Cataract, Autosomal Recessive Congenital 3 Cataract 34 Multiple Types CTRCT34 Catc3 Cataract 34, Multiple Types, With Or Without Microcornea Autosomal Recessive Congenital Cataract 3 Cataract 34 Multiple Types With Or Without Microcornea Cataract, Multiple Types, Type 34
Aortic Aneurysm, Familial Thoracic 11	Aortic Aneurysm, Familial Thoracic 11, Susceptibility To AAT11 Aneurysm, Aortic, Thoracic, Familial, Type 11 {Aortic Aneurysm, Familial Thoracic 11, Susceptibility To}
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Anterior Segment Dysgenesis 1	Anterior Segment Mesenchymal Dysgenesis Anterior Segment Dysgenesis 1, Multiple Subtypes ASGD1 Asmd Anterior Segment Ocular Dysgenesis Asod Familial Ocular Anterior Segment Mesenchymal Dysgenesis Ocular Anterior Segment Dysgenesis Dysgenesis, Anterior Segment, Type 1 Axenfeld-Rieger Syndrome, Type 3 Irido-Corneal Dysgenesis
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Congenital Aphakia	Congenital Absence Of Lens Aphakia, Congenital Primary Agenesis Of Lens
Axenfeld-Rieger Syndrome, Type 3	Axenfeld-Rieger Syndrome Type 3 RIEG3 Anterior Chamber Cleavage Syndrome Anterior Segment Mesenchymal Dysgenesis Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss Rieger Syndrome Type 3 Axenfeld-Rieger Anomaly Rieger Syndrome, Type 3 Axenfeld-Rieger Syndrome 3 Axenfeld Anomaly Rieger Anomaly Rieger Syndrome Rieger Eye Malformation Sequence
Linear Skin Defects With Multiple Congenital Anomalies 1	Midas Syndrome Mcops7 Mls Syndrome Microphthalmia, Syndromic 7 Microphthalmia With Linear Skin Defects Syndrome Microphthalmia With Linear Skin Defects Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome Syndromic Microphthalmia Type 7 LSDMCA1 Mls Microphthalmia, Dermal Aplasia, And Sclerocornea Microphthalmia With Linear Skin Defect Syndrome Syndromic Microphthalmia 7 Linear Skin Defects With Multiple Congenital Anomalies Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome Microphthalmia Dermal Aplasia And Sclerocornea Syndrome Micropthalmia Syndromic 7 Microphthalmia Syndromic 7 Microphthalmia With Linear Skin Lesions Syndrome Syndromic Microphthalmia-7 Microphthalmia, Dermal Aplasia And Sclerocornea Microphthalmia, Syndromic, 7 Midas
Sclerocornea	Isolated Congenital Sclerocornea
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Frontonasal Dysplasia 1	Frontorhiny Frontonasal Dysplasia Fnd Frontonasal Malformation Fnm Median Facial Cleft Syndrome Midline Facial Cleft FND1 Median Cleft Face Syndrome Median Cleft Syndrome Frontonasal Dysplasia Sequence Median Facial Cleft Tessier Number 0-14 And 30 Facial Cleft Alx3-Related Frontonasal Dysplasia Frontonasal Dysplasia Type 1 Isolated Median Cleft Face Syndrome Doid:0081044 Doid:0081045 Dysplasia, Frontonasal, Type
Isolated Microphthalmia
Iris Disease	Iris Diseases
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Corneal Staphyloma	Staphyloma Of Cornea Congenital Staphyloma
Corneal Endothelial Dystrophy	Congenital Hereditary Endothelial Dystrophy Of Cornea Chandler Syndrome CHED Chandler'S Syndrome Endothelial Corneal Dystrophy Ched2 Maumenee Corneal Dystrophy Corneal Dystrophy, Congenital Hereditary Endothelial Dystrophy Of Corneal Endothelium Corneal Endothelial Dystrophy 2 Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly Ched2, Formerly Corneal Endothelial Dystrophy, Autosomal Recessive Endothelial Dystrophy Posterior Membrane Corneal Dystrophy Corneal Endothelial Dystrophy Type 2 Congenital Hereditary Endothelial Dystrophy Of The Cornea Congenital Hereditary Endothelial Dystrophy Type Ii Autosomal Recessive Ched Autosomal Recessive Congenital Hereditary Endothelial Dystrophy Chedii Congenital Hereditary Endothelial Dystrophy Type 2 Infantile Hereditary Endothelial Dystrophy Congenital Hereditary Endothelial Corneal Dystrophy Corneal Endothelial Dystrophy 2, Autosomal Recessive Iridocorneal Endothelial Syndrome Dystrophy, Corneal, Endothelial Corneal Endothelial Dystrophy 1, Autosomal Dominant
Lens Disease	Lens Diseases
Aniseikonia
Primary Congenital Glaucoma
Deprivation Amblyopia	Disuse Amblyopia Stimulus Deprivation Amblyopia
Brain Small Vessel Disease
Factor X Deficiency	Stuart-Prower Factor Deficiency F10 Deficiency Congenital Stuart Factor Deficiency Factor X Deficiency, Congenital Congenital Factor X Deficiency Disease, Stuart-Prower Stuart Factor Deficiency, Congenital FA10D Factor 10 Deficiency Deficiency, Factor X Hereditary Factor X Deficiency Disease Deficiency Of Factor X Stuart Deficiency Disease Stuart Prower Deficiency Stuart-Prower Disease
Presbyopia	Subnormal Accommodation Accommodation Insufficiency Of Old Age
Cornea Plana	Flat Cornea
Juvenile Glaucoma	Glaucoma Of Childhood Hydrophthalmos
Hydrophthalmos
Orbital Cyst
Trichohepatoenteric Syndrome 1	Trichohepatoenteric Syndrome Syndromic Diarrhea Tricho-Hepato-Enteric Syndrome Sd/The Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome THES1 Phenotypic Diarrhea Thes Phenotypic Diarrhea Of Infancy Diarrhea, Syndromic Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa Intractable Diarrhea With Phenotypic Anomalies Syndromatic Diarrhea Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Microphthalmia, Syndromic 3	MCOPS3 Aeg Syndrome Microphthalmia And Esophageal Atresia Syndrome Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-Esophageal-Genital Syndrome Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System Syndromic Microphthalmia 3 Sox2 Anophthalmia Syndrome Anophthalmia Clinical With Associated Anomalies Anophthalmia Esophageal Genital Syndrome Anophthalmia Microphthalmia Esophageal Atresia Syndromic Microphthalmia Type 3 Sox2-Related Eye Disorders Anophthalmia, Clinical, With Associated Anomalies Syndromic Microphthalmia, Type 3 Microphthalmia, Syndromic, 3 Anophthalmia/Microphthalmia-Esophageal Atresia Microphthalmia Syndromic, Type 3
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Blepharophimosis, Ptosis, And Epicanthus Inversus	Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome BPES Blepharophimosis Syndrome Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1 Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Bpes With Duane Retraction Syndrome Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2 Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1 Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2 Bpes Type 2 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus 3q23 Microdeletion Syndrome Bpes Plus Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1 Bpes Type 1 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure Blepharophimosis, Ptosis, Epicanthus Inversus Autosomal Dominant Bpes Type I Autosomal Recessive Bpes Type I Bpes Type I Bpes Type Ii Bpes Without Ovarian Failure Bpes With Ovarian Failure Blepharophimosis Syndrome Type 1 Blepharophimosis Syndrome Type 2
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Syndromic Microphthalmia	Microphthalmia, Syndromic
Corneal Disease	Corneal Diseases Corneal Disorders
Lens Subluxation	Subluxation Of Lens
Amblyopia	Lazy Eye
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Nanophthalmos	Nanophthalmia
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05048	FOXE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FOXE3	MGD	MGI:1353569
Macaca mulatta	FOXE3	VGNC	VGNC:106368
Bos taurus	FOXE3	VGNC	VGNC:106745
Rattus norvegicus	FOXE3	RGD	RGD:621727
Felis catus	FOXE3	VGNC	VGNC:107545
Canis familiaris	FOXE3	VGNC	VGNC:54558
Others	FOXE3	NCBI