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FOXL2 forkhead box L2 [ Homo sapiens (human) ]

Gene ID: 668, updated on 12-May-2019

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
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

Genomic context

See FOXL2 in Genome Data Viewer
Location:
3q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (138944224..138947140, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138663066..138665982, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 3 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 FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-15)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-15)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.
NHGRI GWA 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

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

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)

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
    UniProtKB/TrEMBL
    Q53ZD3
    Related
    ENSP00000497217.1, ENST00000648323.1
    Conserved Domains (1) summary
    smart00339
    Location:54142
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    138944224..138947140 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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