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    FOXL2 forkhead box L2 [ Homo sapiens (human) ]

    Gene ID: 668, updated on 8-Jun-2017
    Official Symbol
    FOXL2provided by HGNC
    Official Full Name
    forkhead box L2provided by HGNC
    Primary source
    HGNC:HGNC:1092
    See related
    Ensembl:ENSG00000183770 MIM:605597; Vega:OTTHUMG00000159889
    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
    Location:
    3q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 1391 Neighboring gene FOXL2 neighbor Neighboring gene proline rich 23A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    apoptotic DNA fragmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    menstruation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter 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 from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    forkhead box protein L2
    Names
    forkhead transcription factor FOXL2

    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
      5001..7917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_023067.3NP_075555.1  forkhead box protein L2

      See identical proteins and their annotated locations for NP_075555.1

      Status: REVIEWED

      Source sequence(s)
      AC092947
      Consensus CDS
      CCDS3105.1
      UniProtKB/Swiss-Prot
      P58012
      UniProtKB/TrEMBL
      Q53ZD3
      Related
      ENSP00000333188.3, OTTHUMP00000216888, ENST00000330315.3, OTTHUMT00000357999
      Conserved Domains (1) summary
      smart00339
      Location:54142
      FH; FORKHEAD

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      138627041..138629957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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