FOXE3 (forkhead box E3)

2007-04-01 Affiliation

Identity

HGNC

FOXE3

LOCATION

1p33

LOCUSID

2301

ALIAS

AAT11,ASGD2,CTRCT34,FKHL12,FREAC8

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2301
MIM: 601094
HGNC: 3808
Ensembl: ENSG00000186790

Variants:

dbSNP: 2301
ClinVar: 2301
TCGA: ENSG00000186790
COSMIC: FOXE3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000186790	ENST00000335071	Q13461
ENSG00000186790	ENST00000335071	A0A0A1EII5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
10652278	2000	A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle.	76
16826526	2006	Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.	33
26854927	2016	FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.	28
19708017	2009	Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.	27
20806047	2010	Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.	23
20140963	2010	FOXE3 plays a significant role in autosomal recessive microphthalmia.	21
21150893	2011	A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.	17
20664696	2010	Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.	12
27218149	2016	FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.	12
20361012	2010	A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.	6

Citation

Dessen P

FOXE3 (forkhead box E3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46945/foxe3