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    FOXL2 forkhead box L2 [ Homo sapiens (human) ]

    Gene ID: 668, updated on 12-Feb-2024

    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
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138944224..138947137, complement)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 14767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20607 Neighboring gene Sharpr-MPRA regulatory region 3980 Neighboring gene long intergenic non-protein coding RNA 1391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138663365-138663954 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:138665995-138666223 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

    Gene Ontology Provided by GOA

    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 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
     
    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
     
    part_of 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
      A0A8B0SX42, A0A8B0SXM7, A0A8B0SXP0, A0A8B0SY93, A0A8B0T069, A0A8B0T146, A0A8B0T273, A0A8B0T278, Q53ZD3
      Related
      ENSP00000497217.1, ENST00000648323.1
      Conserved Domains (1) summary
      pfam00250
      Location:53139
      Forkhead; Forkhead domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)