FOXL2 forkhead box L2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 3q22.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (138944224..138947137, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (141685214..141688129, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (138663066..138665979, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Title: Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells.
Title: FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells.
Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.
Title: Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.
FOXL2 Mutation Status in Sex Cord-stromal Tumors Cannot be Predicted by Morphology.
Title: FOXL2 Mutation Status in Sex Cord-stromal Tumors Cannot be Predicted by Morphology.
FOXL2: a gene central to ovarian function.
Title: FOXL2: a gene central to ovarian function.
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
Title: Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
ERK1/2-SOX9/FOXL2 axis regulates ovarian steroidogenesis and favors the follicular-luteal transition.
Title: ERK1/2-SOX9/FOXL2 axis regulates ovarian steroidogenesis and favors the follicular-luteal transition.
Incidental FOXL2 mutated adult granulosa cell tumour of the ovary with thecoma-like foci.
Title: Incidental FOXL2 mutated adult granulosa cell tumour of the ovary with thecoma-like foci.
The Genetics and Biology of FOXL2.
Title: The Genetics and Biology of FOXL2.
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Title: Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.

Submit: New GeneRIF Correction See all GeneRIFs (195)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome MedGen: C0220663 OMIM: 110100 GeneReviews: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome	not available
Premature ovarian failure 3 MedGen: C1837008 OMIM: 608996 GeneReviews: Not available	not available

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47988 (e-PCR)
- UniSTS:57174

Foxl2 (e-PCR), detects polymorphism
- UniSTS:463206

FOXL2_1880.3 (e-PCR)
- UniSTS:280678

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase regulator activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
enables nuclear estrogen receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin conjugating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
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
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	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
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

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Preferred Names: forkhead box protein L2

Names: forkhead transcription factor FOXL2

NCBI Reference Sequences (RefSeq)

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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.