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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)