Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2301
Gene name	Forkhead box E3
Gene symbol	FOXE3
Synonyms (NCBI Gene)	AAT11ASGD2CATC3CTRCT34FKHL12FREAC8
Chromosome	1
Chromosome location	1p33
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 format

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments
MIRT1001627	hsa-miR-122	CLIP-seq
MIRT1001628	hsa-miR-149	CLIP-seq
MIRT1001629	hsa-miR-2115	CLIP-seq
MIRT1001630	hsa-miR-224	CLIP-seq
MIRT1001631	hsa-miR-3064-5p	CLIP-seq
MIRT1001632	hsa-miR-3126-3p	CLIP-seq
MIRT1001633	hsa-miR-4256	CLIP-seq
MIRT1001634	hsa-miR-4294	CLIP-seq
MIRT1001635	hsa-miR-4433	CLIP-seq
MIRT1001636	hsa-miR-4475	CLIP-seq
MIRT1001637	hsa-miR-4794	CLIP-seq
MIRT1001638	hsa-miR-665	CLIP-seq
MIRT1001639	hsa-miR-765	CLIP-seq
MIRT2230752	hsa-miR-1253	CLIP-seq
MIRT1001630	hsa-miR-224	CLIP-seq
MIRT1001633	hsa-miR-4256	CLIP-seq
MIRT1001634	hsa-miR-4294	CLIP-seq
MIRT2230753	hsa-miR-4419a	CLIP-seq
MIRT1001635	hsa-miR-4433	CLIP-seq
MIRT2230754	hsa-miR-4434	CLIP-seq
MIRT2230755	hsa-miR-4457	CLIP-seq
MIRT2230756	hsa-miR-4510	CLIP-seq
MIRT2230757	hsa-miR-4516	CLIP-seq
MIRT2230758	hsa-miR-513b	CLIP-seq
MIRT1001638	hsa-miR-665	CLIP-seq
MIRT1001630	hsa-miR-224	CLIP-seq
MIRT1001633	hsa-miR-4256	CLIP-seq
MIRT1001634	hsa-miR-4294	CLIP-seq
MIRT1001635	hsa-miR-4433	CLIP-seq
MIRT1001638	hsa-miR-665	CLIP-seq
MIRT2534711	hsa-miR-3132	CLIP-seq
MIRT2534712	hsa-miR-4447	CLIP-seq
MIRT2534713	hsa-miR-4472	CLIP-seq
MIRT2534711	hsa-miR-3132	CLIP-seq
MIRT2534712	hsa-miR-4447	CLIP-seq
MIRT2534713	hsa-miR-4472	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	IMP	27218149
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0002088	Process	Lens development in camera-type eye	IMP	27218149
GO:0002088	Process	Lens development in camera-type eye	ISS	17064680
GO:0002930	Process	Trabecular meshwork development	IEA
GO:0002930	Process	Trabecular meshwork development	ISS	17064680
GO:0003677	Function	DNA binding	IDA	25504734
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10652278, 25504734
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8825632
GO:0005634	Component	Nucleus	IDA	25504734
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IDA	10652278
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	10652278
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0030154	Process	Cell differentiation	IBA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	27218149
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	22527307
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS	11980846
GO:0048468	Process	Cell development	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	22527307
GO:0061072	Process	Iris morphogenesis	IEA
GO:0061072	Process	Iris morphogenesis	ISS	17064680
GO:0061073	Process	Ciliary body morphogenesis	IEA
GO:0061073	Process	Ciliary body morphogenesis	ISS	17064680
GO:0061303	Process	Cornea development in camera-type eye	IEA
GO:0061303	Process	Cornea development in camera-type eye	ISS	17064680
GO:1902747	Process	Negative regulation of lens fiber cell differentiation	IEA
GO:1902747	Process	Negative regulation of lens fiber cell differentiation	ISS	16199865
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	IEA
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	IMP	22527307
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	ISS	16199865

MIM	HGNC	e!Ensembl
601094	3808	ENSG00000186790

Q13461

Protein name

Forkhead box protein E3 (Forkhead-related protein FKHL12) (Forkhead-related transcription factor 8) (FREAC-8)

Protein function

Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00250	Forkhead	70 → 156	Forkhead domain	Domain

Sequence

MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPG
RRRRRPLQRGKPPYSYIALIAMALAHAPGRRLTLAAIYRFITERFAFYRDSPRKWQNSIR
HNLTLNDCFVKVPREPGNPGKGNYWTLDPAAADMFDNGSFLRRRKRFKRAELPAHAAAAP
GPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFSVDSLVNLQPELAGLGAPEPPCC
AAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRPGPGPLPAEPLLALAGPAAALGPLS
PGEAYLRQPGFASGLERYL

Sequence length

319

Interactions

View interactions

946

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anterior segment dysgenesis	Pathogenic; Likely pathogenic	rs1464817302, rs1035206433, rs958241794, rs2124042660, rs1465921700, rs958293767, rs2521317897, rs80358194, rs1325345116, rs1176723126, rs2521321688, rs1167122307, rs377669670, rs1646883385, rs762006562	RCV003771269 RCV001930870 RCV001958937 RCV001921609 RCV001948196 RCV003005444 RCV003054429 RCV001200038 RCV003785664 RCV003788152 RCV003801268 RCV003812726 RCV001062090 RCV001041075 RCV001203942
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs377669670	RCV004023273
Cataract 34 multiple types	Pathogenic	rs2124045186, rs387906793, rs1057518738	RCV001391241 RCV001391240 RCV000412546
Congenital primary aphakia	Pathogenic; Likely pathogenic	rs1464817302, rs2124041750, rs2124042297, rs772347736, rs2124043339, rs1035206433, rs958241794, rs2124042660, rs1465921700, rs1646884931, rs958293767, rs2521317897, rs1570406175, rs80358194, rs1325345116 View all (9 more)	RCV001391232 RCV001391233 RCV001391234 RCV001391237 RCV001391235 RCV001930870 RCV001958937 RCV001921609 RCV001948196 RCV002291177 RCV003005444 RCV003054429 RCV000008962 RCV000008963 RCV003785664 RCV003788152 RCV003801268 RCV003812726 RCV004557233 RCV000023071 RCV001062090 RCV001041075 RCV001203942 RCV001267882
FOXE3-related disorder	Likely pathogenic	rs2521318388	RCV003408347

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute aortic dissection	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs367943249, rs749960549, rs745571457, rs202086896, rs1391534565, rs745950487	RCV000755150 RCV000755149 RCV000755153 RCV000755152 RCV000755151 RCV000755154
Anterior segment dysgenesis 1	Benign; Uncertain significance	rs566961335, rs1336140217	RCV000986320 RCV000845078
Aortic aneurysm, familial thoracic 11, susceptibility to	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs1275380745, rs34082359, rs2521321493, rs367943249, rs749960549, rs372281087	RCV005399076 RCV002500455 RCV005863740 RCV000417170 RCV000417124 RCV002290450
Congenital aneurysm of ascending aorta	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs367943249, rs749960549, rs745571457, rs202086896, rs1391534565, rs745950487	RCV000755150 RCV000755149 RCV000755153 RCV000755152 RCV000755151 RCV000755154
Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs759971494, rs34082359, rs552420470, rs201158701, rs281865461, rs1336140217, rs534479543, rs530072475, rs112802909, rs560327746	RCV001788849 RCV003485547 RCV003485570 RCV003485583 RCV003485602 RCV000845078 RCV003485656 RCV003485655 RCV003485678 RCV003485688

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aniridia	Associate	20806047, 34046667
Anophthalmia with pulmonary hypoplasia	Associate	22204637
Anophthalmos	Associate	22204637
Anterior segment mesenchymal dysgenesis	Associate	20664696, 21150893, 32224865, 32976546, 34046667
Aphakia	Associate	20361012, 20664696, 24019743, 34046667
Aphakia congenital primary	Associate	20361012
Autistic Disorder	Associate	32499604
Cataract	Associate	20806047, 34046667, 37203095
Corneal Opacity	Associate	34046667
Developmental Disabilities	Associate	34046667
Diabetes Mellitus	Associate	10799560
Eye Abnormalities	Associate	20806047, 34046667
Eye Diseases	Associate	32976546, 34046667
Genetic Diseases Inborn	Associate	28418495
Iris Diseases	Associate	34046667
Leber Congenital Amaurosis	Associate	32976546
Microphthalmos	Associate	20664696, 22204637, 24019743, 34046667
Optic Nerve Diseases	Associate	20664696
Optic Nerve Hypoplasia	Associate	34046667
Peters anomaly	Associate	21150893, 35170016
Sclerocornea	Associate	20664696, 24019743, 34046667
Sclerocornea Autosomal Dominant	Associate	20664696
Vision Disorders	Associate	32976546

FOXE3 (forkhead box E3)