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P58012

- FOXL2_HUMAN

UniProt

P58012 - FOXL2_HUMAN

Protein

Forkhead box protein L2

Gene

FOXL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (27 Apr 2001)
      Previous versions | rss
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    Functioni

    Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 By similarity. Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen By similarity. Is a regulator of CYP19 expression By similarity. Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element By similarity. Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2.By similarity4 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi54 – 14895Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. cysteine-type endopeptidase regulator activity involved in apoptotic process Source: UniProtKB
    2. DNA binding Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. sequence-specific DNA binding Source: InterPro
    5. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    6. ubiquitin conjugating enzyme binding Source: UniProtKB

    GO - Biological processi

    1. apoptotic DNA fragmentation Source: UniProtKB
    2. cell differentiation Source: UniProtKB
    3. embryonic eye morphogenesis Source: Ensembl
    4. extraocular skeletal muscle development Source: UniProtKB
    5. female somatic sex determination Source: Ensembl
    6. granulosa cell differentiation Source: Ensembl
    7. menstruation Source: UniProtKB
    8. negative regulation of transcription, DNA-templated Source: UniProtKB
    9. ovarian follicle development Source: UniProtKB
    10. positive regulation of apoptotic process Source: UniProtKB
    11. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
    12. positive regulation of transcription, DNA-templated Source: UniProtKB
    13. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    14. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein L2
    Gene namesi
    Name:FOXL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:1092. FOXL2.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.12 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry. There is a mutational hotspot in the region coding for the poly-Ala domain, since 30% of all mutations in the ORF lead to poly-Ala expansions, resulting mainly in BPES type II.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581S → L in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_021196
    Natural varianti63 – 631I → T in BPES. 1 Publication
    VAR_062545
    Natural varianti65 – 651M → V in BPES. 1 Publication
    VAR_046490
    Natural varianti66 – 661A → V in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_021197
    Natural varianti69 – 691E → K in BPES; sporadic; nuclear aggregation; normal transactivation activity. 1 Publication
    VAR_021198
    Natural varianti80 – 801I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046491
    Natural varianti84 – 841I → N in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046492
    Natural varianti84 – 841I → S in BPES; type I. 1 Publication
    Corresponds to variant rs28937884 [ dbSNP | Ensembl ].
    VAR_016883
    Natural varianti85 – 851Missing in BPES; sporadic. 1 Publication
    VAR_016884
    Natural varianti90 – 901F → S in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046493
    Natural varianti98 – 981W → G in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046494
    Natural varianti98 – 981W → R in BPES. 1 Publication
    VAR_062546
    Natural varianti101 – 1011S → R in BPES; nuclear aggregation; impaired transactivation activity. 1 Publication
    VAR_046495
    Natural varianti102 – 1021I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046496
    Natural varianti103 – 1031R → C in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity. 1 Publication
    VAR_046497
    Natural varianti104 – 1041H → R in BPES; diffuse nuclear localization as wild type; normal transactivation activity. 1 Publication
    VAR_021199
    Natural varianti105 – 1051N → S in BPES; type II.
    VAR_021200
    Natural varianti106 – 1061L → F in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_016885
    Natural varianti106 – 1061L → P in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046498
    Natural varianti108 – 1081L → P in BPES; nuclear aggregation and cytoplasmic mislocalization; impaired transactivation activity. 1 Publication
    VAR_062547
    Natural varianti109 – 1091N → K in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity. 1 Publication
    VAR_016886
    Natural varianti193 – 1931K → R in BPES; type II.
    VAR_021202
    Natural varianti215 – 2151Y → C in BPES. 2 Publications
    VAR_021203
    Natural varianti217 – 2171S → C in BPES; diffuse nuclear localization; normal transcriptional activation. 1 Publication
    VAR_062549
    Natural varianti217 – 2171S → F in BPES; diffuse nuclear localization; increased transactivation activity. 2 Publications
    VAR_016887
    Natural varianti234 – 2341A → AAAAAA in BPES; significant higher cytoplasmic retention compared to the wild-type protein. 1 Publication
    VAR_037303
    Natural varianti234 – 2341A → AAAAAAAAAAA in BPES; type II. 2 Publications
    VAR_010782
    Natural varianti234 – 2341A → AAAAAAAAAAAA in BPES. 1 Publication
    VAR_025306
    Premature ovarian failure 3 (POF3) [MIM:608996]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti187 – 1871G → D in POF3; does not affect nuclear localization; reduces transcriptional activation of OSR2. 2 Publications
    VAR_015181
    Natural varianti258 – 2581Y → N in POF3. 1 Publication
    Corresponds to variant rs28937885 [ dbSNP | Ensembl ].
    VAR_021204

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi25 – 251K → R: Results in reduced sumoylation. Loss of transcriptional repression activity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Premature ovarian failure

    Organism-specific databases

    MIMi110100. phenotype.
    608996. phenotype.
    Orphaneti261559. Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion.
    261572. Blepharophimosis - epicanthus inversus - ptosis due to a point mutation.
    619. Primary ovarian failure.
    PharmGKBiPA28235.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 376376Forkhead box protein L2PRO_0000091861Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki25 – 25Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

    Post-translational modificationi

    Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity.1 Publication

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    MaxQBiP58012.
    PaxDbiP58012.
    PRIDEiP58012.

    PTM databases

    PhosphoSiteiP58012.

    Expressioni

    Tissue specificityi

    In addition to its expression in the developing eyelid, it is transcribed very early in somatic cells of the developing gonad (before sex determination) and its expression persists in the follicular cells of the adult ovary.

    Inductioni

    In granulosa-like cells, up-regulated at transcript and protein levels under oxidative stress and heat-shock conditions. Down-regulated by SIRT1.1 Publication

    Gene expression databases

    ArrayExpressiP58012.
    BgeeiP58012.
    CleanExiHS_FOXL2.
    GenevestigatoriP58012.

    Interactioni

    Subunit structurei

    Interacts with ESR1 By similarity. Interacts with SMAD3 By similarity. Interacts with DDX20. Interacts with UBE2I/UBC9.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi107136. 5 interactions.
    IntActiP58012. 2 interactions.
    STRINGi9606.ENSP00000333188.

    Structurei

    3D structure databases

    ProteinModelPortaliP58012.
    SMRiP58012. Positions 54-143.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi35 – 439Poly-Gly
    Compositional biasi221 – 23414Poly-AlaAdd
    BLAST
    Compositional biasi284 – 2929Poly-Pro
    Compositional biasi301 – 3044Poly-Ala

    Sequence similaritiesi

    Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5025.
    HOVERGENiHBG051651.
    InParanoidiP58012.
    KOiK09405.
    OMAiELSMMHC.
    OrthoDBiEOG7C8GHD.
    PhylomeDBiP58012.
    TreeFamiTF316127.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    InterProiIPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00250. Fork_head. 1 hit.
    [Graphical view]
    PRINTSiPR00053. FORKHEAD.
    SMARTiSM00339. FH. 1 hit.
    [Graphical view]
    PROSITEiPS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P58012-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMASYPEPED AAGALLAPET GRTVKEPEGP PPSPGKGGGG GGGTAPEKPD    50
    PAQKPPYSYV ALIAMAIRES AEKRLTLSGI YQYIIAKFPF YEKNKKGWQN 100
    SIRHNLSLNE CFIKVPREGG GERKGNYWTL DPACEDMFEK GNYRRRRRMK 150
    RPFRPPPAHF QPGKGLFGAG GAAGGCGVAG AGADGYGYLA PPKYLQSGFL 200
    NNSWPLPQPP SPMPYASCQM AAAAAAAAAA AAAAGPGSPG AAAVVKGLAG 250
    PAASYGPYTR VQSMALPPGV VNSYNGLGGP PAAPPPPPHP HPHPHAHHLH 300
    AAAAPPPAPP HHGAAAPPPG QLSPASPATA APPAPAPTSA PGLQFACARQ 350
    PELAMMHCSY WDHDSKTGAL HSRLDL 376
    Length:376
    Mass (Da):38,772
    Last modified:April 27, 2001 - v1
    Checksum:iB4952F2A0380E533
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581S → L in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_021196
    Natural varianti63 – 631I → T in BPES. 1 Publication
    VAR_062545
    Natural varianti65 – 651M → V in BPES. 1 Publication
    VAR_046490
    Natural varianti66 – 661A → V in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_021197
    Natural varianti69 – 691E → K in BPES; sporadic; nuclear aggregation; normal transactivation activity. 1 Publication
    VAR_021198
    Natural varianti80 – 801I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046491
    Natural varianti84 – 841I → N in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046492
    Natural varianti84 – 841I → S in BPES; type I. 1 Publication
    Corresponds to variant rs28937884 [ dbSNP | Ensembl ].
    VAR_016883
    Natural varianti85 – 851Missing in BPES; sporadic. 1 Publication
    VAR_016884
    Natural varianti90 – 901F → S in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046493
    Natural varianti98 – 981W → G in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046494
    Natural varianti98 – 981W → R in BPES. 1 Publication
    VAR_062546
    Natural varianti101 – 1011S → R in BPES; nuclear aggregation; impaired transactivation activity. 1 Publication
    VAR_046495
    Natural varianti102 – 1021I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046496
    Natural varianti103 – 1031R → C in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity. 1 Publication
    VAR_046497
    Natural varianti104 – 1041H → R in BPES; diffuse nuclear localization as wild type; normal transactivation activity. 1 Publication
    VAR_021199
    Natural varianti105 – 1051N → S in BPES; type II.
    VAR_021200
    Natural varianti106 – 1061L → F in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_016885
    Natural varianti106 – 1061L → P in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
    VAR_046498
    Natural varianti108 – 1081L → P in BPES; nuclear aggregation and cytoplasmic mislocalization; impaired transactivation activity. 1 Publication
    VAR_062547
    Natural varianti109 – 1091N → K in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity. 1 Publication
    VAR_016886
    Natural varianti134 – 1341C → W in granulosa-cell tumors of the ovary; not commonly found in other tumor types. 2 Publications
    VAR_062548
    Natural varianti179 – 1791A → G.2 Publications
    Corresponds to variant rs7432551 [ dbSNP | Ensembl ].
    VAR_021201
    Natural varianti187 – 1871G → D in POF3; does not affect nuclear localization; reduces transcriptional activation of OSR2. 2 Publications
    VAR_015181
    Natural varianti193 – 1931K → R in BPES; type II.
    VAR_021202
    Natural varianti215 – 2151Y → C in BPES. 2 Publications
    VAR_021203
    Natural varianti217 – 2171S → C in BPES; diffuse nuclear localization; normal transcriptional activation. 1 Publication
    VAR_062549
    Natural varianti217 – 2171S → F in BPES; diffuse nuclear localization; increased transactivation activity. 2 Publications
    VAR_016887
    Natural varianti234 – 2341A → AAAAAA in BPES; significant higher cytoplasmic retention compared to the wild-type protein. 1 Publication
    VAR_037303
    Natural varianti234 – 2341A → AAAAAAAAAAA in BPES; type II. 2 Publications
    VAR_010782
    Natural varianti234 – 2341A → AAAAAAAAAAAA in BPES. 1 Publication
    VAR_025306
    Natural varianti258 – 2581Y → N in POF3. 1 Publication
    Corresponds to variant rs28937885 [ dbSNP | Ensembl ].
    VAR_021204
    Natural varianti285 – 2851P → S.1 Publication
    VAR_015182

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF301906 mRNA. Translation: AAK01352.1.
    DQ016609 Genomic DNA. Translation: AAY21823.1.
    BC062549 mRNA. Translation: AAH62549.1.
    CCDSiCCDS3105.1.
    RefSeqiNP_075555.1. NM_023067.3.
    UniGeneiHs.289292.

    Genome annotation databases

    EnsembliENST00000330315; ENSP00000333188; ENSG00000183770.
    GeneIDi668.
    KEGGihsa:668.
    UCSCiuc003esw.3. human.

    Polymorphism databases

    DMDMi13626838.

    Keywords - Coding sequence diversityi

    Polymorphism, Triplet repeat expansion

    Cross-referencesi

    Web resourcesi

    Forkhead box L2 (FOXL2)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF301906 mRNA. Translation: AAK01352.1 .
    DQ016609 Genomic DNA. Translation: AAY21823.1 .
    BC062549 mRNA. Translation: AAH62549.1 .
    CCDSi CCDS3105.1.
    RefSeqi NP_075555.1. NM_023067.3.
    UniGenei Hs.289292.

    3D structure databases

    ProteinModelPortali P58012.
    SMRi P58012. Positions 54-143.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107136. 5 interactions.
    IntActi P58012. 2 interactions.
    STRINGi 9606.ENSP00000333188.

    PTM databases

    PhosphoSitei P58012.

    Polymorphism databases

    DMDMi 13626838.

    Proteomic databases

    MaxQBi P58012.
    PaxDbi P58012.
    PRIDEi P58012.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330315 ; ENSP00000333188 ; ENSG00000183770 .
    GeneIDi 668.
    KEGGi hsa:668.
    UCSCi uc003esw.3. human.

    Organism-specific databases

    CTDi 668.
    GeneCardsi GC03M138663.
    GeneReviewsi FOXL2.
    HGNCi HGNC:1092. FOXL2.
    MIMi 110100. phenotype.
    605597. gene.
    608996. phenotype.
    neXtProti NX_P58012.
    Orphaneti 261559. Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion.
    261572. Blepharophimosis - epicanthus inversus - ptosis due to a point mutation.
    619. Primary ovarian failure.
    PharmGKBi PA28235.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOVERGENi HBG051651.
    InParanoidi P58012.
    KOi K09405.
    OMAi ELSMMHC.
    OrthoDBi EOG7C8GHD.
    PhylomeDBi P58012.
    TreeFami TF316127.

    Miscellaneous databases

    GeneWikii Forkhead_box_L2.
    GenomeRNAii 668.
    NextBioi 2732.
    PROi P58012.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P58012.
    Bgeei P58012.
    CleanExi HS_FOXL2.
    Genevestigatori P58012.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    InterProi IPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00250. Fork_head. 1 hit.
    [Graphical view ]
    PRINTSi PR00053. FORKHEAD.
    SMARTi SM00339. FH. 1 hit.
    [Graphical view ]
    PROSITEi PS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT BPES ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS.
    2. "Study of mutations of FOXL2 gene in a Chinese TongHai family with blepharophimosis-ptosis-epicanthus inversus syndrome."
      Xu Y.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT BPES ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Pancreas.
    4. "Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis."
      Lee K., Pisarska M.D., Ko J.J., Kang Y., Yoon S., Ryou S.M., Cha K.Y., Bae J.
      Biochem. Biophys. Res. Commun. 336:876-881(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN APOPTOSIS, INTERACTION WITH DDX20.
    5. "Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the steroidogenic acute regulatory gene."
      Kuo F.T., Bentsi-Barnes I.K., Barlow G.M., Bae J., Pisarska M.D.
      Cell. Signal. 21:1935-1944(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS TRANSCRIPTIONAL REPRESSOR OF STAR, INTERACTION WITH UBE2I, SUMOYLATION AT LYS-25, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-25.
    6. "Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations."
      Benayoun B.A., Batista F., Auer J., Dipietromaria A., L'Hote D., De Baere E., Veitia R.A.
      Hum. Mol. Genet. 18:632-644(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS TRANSCRIPTIONAL ACTIVATOR OF SIRT1, INDUCTION.
    7. "Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2."
      Laissue P., Lakhal B., Benayoun B.A., Dipietromaria A., Braham R., Elghezal H., Philibert P., Saad A., Sultan C., Fellous M., Veitia R.A.
      J. Med. Genet. 46:455-457(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS TRANSCRIPTIONAL ACTIVATOR OF OSR2, VARIANT POF3 ASP-187, CHARACTERIZATION OF VARIANT POF3 ASP-187.
    8. Cited for: DATABASE OF FOXL2 VARIANTS.
    9. Cited for: VARIANTS BPES ILE-85 DEL AND PHE-217.
    10. Cited for: VARIANT BPES ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS.
    11. "FOXL2 mutation screening in a large panel of POF patients and XX males."
      De Baere E., Lemercier B., Christin-Maitre S., Durval D., Messiaen L., Fellous M., Veitia R.
      J. Med. Genet. 39:E43-E43(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASP-187 AND SER-285.
    12. "Identification of novel mutations in FOXL2 associated with premature ovarian failure."
      Harris S.E., Chand A.L., Winship I.M., Gersak K., Aittomaeki K., Shelling A.N.
      Mol. Hum. Reprod. 8:729-733(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS POF3 221-ALA--ALA-230 DEL AND ASN-258, VARIANT GLY-179.
    13. Cited for: VARIANTS BPES PHE-106; LYS-109 AND PHE-217.
    14. "Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle."
      Dollfus H., Stoetzel C., Riehm S., Lahlou Boukoffa W., Bediard Boulaneb F., Quillet R., Abu-Eid M., Speeg-Schatz C., Francfort J.J., Flament J., Veillon F., Perrin-Schmitt F.
      Clin. Genet. 63:117-120(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BPES SER-84.
    15. "Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients."
      Udar N., Yellore V., Chalukya M., Yelchits S., Silva-Garcia R., Small K.
      Hum. Mutat. 22:222-228(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BPES ARG-104.
    16. "Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C)."
      Kumar A., Babu M., Raghunath A., Venkatesh C.P.
      Mol. Vis. 10:445-449(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BPES CYS-215.
    17. "Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome."
      Or S.F., Tong M.F., Lo F.M., Lam T.S.
      Chin. Med. J. 119:49-52(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BPES THR-63.
    18. "A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction."
      Nallathambi J., Moumne L., De Baere E., Beysen D., Usha K., Sundaresan P., Veitia R.A.
      Hum. Genet. 121:107-112(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BPES ALA-ALA-ALA-ALA-ALA-234 INS, CHARACTERIZATION OF VARIANT BPES ALA-ALA-ALA-ALA-ALA-234 INS.
    19. "Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation."
      Beysen D., Moumne L., Veitia R., Peters H., Leroy B.P., De Paepe A., De Baere E.
      Hum. Mol. Genet. 17:2030-2038(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS BPES LEU-58; VAL-66; LYS-69; THR-80; ASN-84; SER-90; GLY-98; ARG-101; THR-102; CYS-103; ARG-104; PHE-106; PRO-106; LYS-109 AND PHE-217.
    20. "Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients."
      Nallathambi J., Laissue P., Batista F., Benayoun B.A., Lesaffre C., Moumne L., Pandaranayaka P.E., Usha K., Krishnaswamy S., Sundaresan P., Veitia R.A.
      Hum. Mutat. 29:E123-E131(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BPES ARG-98; PRO-108; CYS-215; CYS-217 AND ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS, VARIANT GLY-179, CHARACTERIZATION OF VARIANTS BPES PRO-108 AND CYS-217.
    21. Cited for: VARIANTS BPES LEU-58; VAL-65; VAL-66; LYS-69; THR-80; ASN-84; SER-90; GLY-98; ARG-101; THR-102; CYS-103 AND PRO-106.
    22. Cited for: VARIANT TRP-134.
    23. Cited for: VARIANT TRP-134.

    Entry informationi

    Entry nameiFOXL2_HUMAN
    AccessioniPrimary (citable) accession number: P58012
    Secondary accession number(s): Q4ZGJ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: April 27, 2001
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3