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FOXE3 forkhead box E3 [ Homo sapiens (human) ]

Gene ID: 2301, updated on 13-Mar-2020

Summary

Official Symbol
FOXE3provided by HGNC
Official Full Name
forkhead box E3provided by HGNC
Primary source
HGNC:HGNC:3808
See related
Ensembl:ENSG00000186790 MIM:601094
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAT11; ASGD2; FKHL12; FREAC8; CTRCT34
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 formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]
Orthologs

Genomic context

See FOXE3 in Genome Data Viewer
Location:
1p33
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (47416285..47418052)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47881744..47883724)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene STIL centriolar assembly protein Neighboring gene cytidine/uridine monophosphate kinase 1 Neighboring gene long intergenic non-protein coding RNA 1389 Neighboring gene FOXD2 adjacent opposite strand RNA 1 Neighboring gene forkhead box D2

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aortic aneurysm, familial thoracic 11, susceptibility to Compare labs
Cataract 34, multiple types
MedGen: C2751822 OMIM: 612968 GeneReviews: Not available
Compare labs
Congenital primary aphakia
MedGen: C1853230 OMIM: 610256 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2017-12-13)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2017-12-13)

ClinGen Genome Curation Page

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell development IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary body morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cornea development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
iris morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
lens development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
lens development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of lens fiber cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of lens epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of lens epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trabecular meshwork development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
forkhead box protein E3
Names
FREAC-8
forkhead, drosophila, homolog-like 12
forkhead-related protein FKHL12
forkhead-related transcription factor 8

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016192.1 RefSeqGene

    Range
    5214..6981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012186.3NP_036318.1  forkhead box protein E3

    See identical proteins and their annotated locations for NP_036318.1

    Status: REVIEWED

    Source sequence(s)
    AF275722, AL607122
    Consensus CDS
    CCDS550.1
    UniProtKB/Swiss-Prot
    Q13461
    UniProtKB/TrEMBL
    A0A0A1EII5
    Related
    ENSP00000334472.2, ENST00000335071.4
    Conserved Domains (1) summary
    smart00339
    Location:71159
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    47416285..47418052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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