U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FOXL2 forkhead box L2 [ Homo sapiens (human) ]

Gene ID: 668, updated on 5-Aug-2022

Summary

Official Symbol
FOXL2provided by HGNC
Official Full Name
forkhead box L2provided by HGNC
Primary source
HGNC:HGNC:1092
See related
Ensembl:ENSG00000183770 MIM:605597; AllianceGenome:HGNC:1092
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
BPES; PFRK; POF3; BPES1; PINTO
Summary
This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FOXL2 in Genome Data Viewer
Location:
3q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138944224..138947137, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141685214..141688129, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138663066..138665979, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906289 Neighboring gene Sharpr-MPRA regulatory region 3980 Neighboring gene long intergenic non-protein coding RNA 1391 Neighboring gene FOXL2 neighbor Neighboring gene proline rich 23A

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-09)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-02-09)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of forkhead box L2 (FOXL2) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in apoptotic DNA fragmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in embryonic eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in extraocular skeletal muscle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in female somatic sex determination IEA
Inferred from Electronic Annotation
more info
 
involved_in granulosa cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in oocyte growth IEA
Inferred from Electronic Annotation
more info
 
involved_in ovarian follicle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ovarian follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of follicle-stimulating hormone secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of luteinizing hormone secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in single fertilization IEA
Inferred from Electronic Annotation
more info
 
involved_in uterus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Flemming body IDA
Inferred from Direct Assay
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
forkhead box protein L2
Names
forkhead transcription factor FOXL2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_012454.1 RefSeqGene

    Range
    5004..7917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1295

mRNA and Protein(s)

  1. NM_023067.4NP_075555.1  forkhead box protein L2

    See identical proteins and their annotated locations for NP_075555.1

    Status: REVIEWED

    Source sequence(s)
    AC092947, BC062549, BF515406, BX095729
    Consensus CDS
    CCDS3105.1
    UniProtKB/Swiss-Prot
    P58012, Q4ZGJ3
    UniProtKB/TrEMBL
    Q53ZD3
    Related
    ENSP00000497217.1, ENST00000648323.1
    Conserved Domains (1) summary
    pfam00250
    Location:53139
    Forkhead; Forkhead domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    138944224..138947137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    141685214..141688129 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)