FOXE3
Forkhead box protein E3
Also known as: FKHL12, FOXE3_HUMAN, FREAC8
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13461
- Gene
- FOXE3
- Ensembl
- ENSG00000186790
- Chromosome
- 1
- Canonical length
- 319 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
319 residues, UniProt reviewed canonical sequence.
>Q13461|FOXE3
1 MAGRSDMDPP AAFSGFPALP AVAPSGPPPS PLAGAEPGRE PEEAAAGRGE AAPTPAPGPG
61 RRRRRPLQRG KPPYSYIALI AMALAHAPGR RLTLAAIYRF ITERFAFYRD SPRKWQNSIR
121 HNLTLNDCFV KVPREPGNPG KGNYWTLDPA AADMFDNGSF LRRRKRFKRA ELPAHAAAAP
181 GPPLPFPYAP YAPAPGPALL VPPPSAGPGP SPPARLFSVD SLVNLQPELA GLGAPEPPCC
241 AAPDAAAAAF PPCAAAASPP LYSQVPDRLV LPATRPGPGP LPAEPLLALA GPAAALGPLS
301 PGEAYLRQPG FASGLERYLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXE3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.62
- Highest tissue expression
- 0.9 nTPM
Expression across tissuesHPA
Tissue
- testis: 0.9 nTPM
- basal ganglia: 0.8 nTPM
- cerebellum: 0.5 nTPM
- kidney: 0.3 nTPM
- cerebral cortex: 0.2 nTPM
- hippocampal formation: 0.2 nTPM
Single-cell type
- undifferentiated spermatogonia: 3.4 nCPM
- differentiating spermatogonia: 1.4 nCPM
- podocytes: 1 nCPM
- early primary spermatocytes: 0.6 nCPM
- enteric stem cells: 0.6 nCPM
- enteric transient amplifying cells: 0.5 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 0.8 nTPM
- cerebral cortex: 0.7 nTPM
- cerebellum: 0.4 nTPM
- white matter: 0.4 nTPM
- hippocampal formation: 0.3 nTPM
- hypothalamus: 0.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FOXE3.
Disease | AllUniProt
Conditions FOXE3 is implicated in, by any mechanism.
- Anterior segment dysgenesis 2 (ASGD2) MIM:610256
- Cataract 34, multiple types (CTRCT34) MIM:612968
- Aortic aneurysm, familial thoracic 11 (AAT11) MIM:617349
Disease | GeneticClinVar
33 pathogenic / likely-pathogenic of 607 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital primary aphakia
- Anterior segment dysgenesis
- Cataract 34 multiple types
- Irido-corneo-trabecular dysgenesis
- Cardiovascular phenotype
Disease | ImmuneIEDB
Conditions an epitope on FOXE3 was assayed in.
- systemic scleroderma B cell
- systemic lupus erythematosus B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.61
- gnomAD pLI
- 0.18
- gnomAD missense Z
- 0.57
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- cell development
- cell differentiation
- ciliary body morphogenesis
- cornea development in camera-type eye
- epithelial cell proliferation
- eye development
- iris morphogenesis
- lens development in camera-type eye
- mRNA transcription by RNA polymerase II
- negative regulation of apoptotic process
- negative regulation of lens fiber cell differentiation
- positive regulation of lens epithelial cell proliferation
- regulation of cell cycle
- regulation of transcription by RNA polymerase II
- trabecular meshwork development
- transcription by RNA polymerase II
Molecular functions
- DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FOXE3 as an antibody target. Whether an autoantibody or antibody against FOXE3 could matter depends on whether native FOXE3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXE3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FOXE3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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