FOXE3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FOXE3 (HGNC:3808) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
forkhead box E3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FKHL12
Alias symbols
FREAC8
%HI
68.36(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.12(Read more about gnomAD pLI score)
LOEUF
1.94(Read more about gnomAD LOEUF score)
Cytoband
1p33
Genomic Coordinates
GRCh37/hg19: chr1:47881957-47883724 NCBI Ensembl UCSC
GRCh38/hg38: chr1:47416285-47418052 NCBI Ensembl UCSC
MANE Select Transcript
NM_012186.3 ENST00000335071.4 (Read more about MANE Select)
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 the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pat... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27949
ClinGen Curation ID:
CCID:007156
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
12/13/2017

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There have been several families with ocular abnormalities including anterior segment mesenchymal dysgenesis, cataracts, and/or microphthalmia with mutations identified in FOXE3, both autosomal dominant and recessive. Almost all of the autosomal dominant families have had heterozygous mutations that result in the addition of amino acids to the C-terminus due to either a frameshift or non-stop (abolished stop codon) mutations (PMIDs:11159941, 21150893, 19708017, 20806047). Doucette et al (2011, PMID:21150893) sequenced cDNA from lymphoblasts and did not detect any evidence of the mutation, suggesting that either the mutant mRNA was degraded or not transcribed. However, FOXE3 is normally only expressed in lens epithelium. No other functional studies have been done. Homozygous mutations identified in the recessive families include nonsense and frameshift mutations and carrier parents are unaffected (PMID:24033328, 22204637, 20664696, 20361012, 20140963, 16826526). Considering the lack of a phenotype in heterozygotes in these families, and the unique nature of the mutations in the dominant families, haploinsufficiency seems an unlikely mechanism for these dominant ocular phenotypes. However, further function studies of the mutations in the dominant families are needed.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)