LOCUS       NP_075555                376 aa            linear   PRI 08-OCT-2024
DEFINITION  forkhead box protein L2 [Homo sapiens].
ACCESSION   NP_075555 XP_945630
VERSION     NP_075555.1
DBSOURCE    REFSEQ: accession NM_023067.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 376)
  AUTHORS   Jordan,P., Verebi,C., Herve,B., Perol,S., Chakhtoura,Z.,
            Courtillot,C., Bachelot,A., Karila,D., Renard,C., Grouthier,V., de
            la Croix,S.M., Bernard,V., Fouveaut,C., de la Perriere,A.B.,
            Jonard-Catteau,S., Touraine,P., Plu-Bureau,G., Dupont,J.M.,
            Christin-Maitre,S. and Bienvenu,T.
  TITLE     Shifting the landscape: Dominant C-terminal rare missense FOXL2
            variants in non-syndromic primary ovarian failure etiology
  JOURNAL   Clin Genet 106 (1), 102-108 (2024)
   PUBMED   38558253
  REMARK    GeneRIF: Shifting the landscape: Dominant C-terminal rare missense
            FOXL2 variants in non-syndromic primary ovarian failure etiology.
REFERENCE   2  (residues 1 to 376)
  AUTHORS   Wen,F., Ding,Y., Wang,M., Du,J., Zhang,S. and Kee,K.
  TITLE     FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian
            granulosa-like cells
  JOURNAL   Cell Prolif 57 (5), e13589 (2024)
   PUBMED   38192172
  REMARK    GeneRIF: FOXL2 and NR5A1 induce human fibroblasts into
            steroidogenic ovarian granulosa-like cells.
REFERENCE   3  (residues 1 to 376)
  AUTHORS   Shen,Q., Zhao,X., Ji,Y. and Chai,P.
  TITLE     Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese
            Family of Type II Blepharophimosis-ptosis-epicanthus Inversus
            Syndrome with Polydactyly
  JOURNAL   J Craniofac Surg 35 (1), e52-e56 (2024)
   PUBMED   37938073
  REMARK    GeneRIF: Deletion of cis-regulatory Element in FOXL2 Promoter in a
            Chinese Family of Type II Blepharophimosis-ptosis-epicanthus
            Inversus Syndrome with Polydactyly.
REFERENCE   4  (residues 1 to 376)
  AUTHORS   Mubeen,A. and Parra-Herran,C.
  TITLE     FOXL2: a gene central to ovarian function
  JOURNAL   J Clin Pathol 76 (12), 798-801 (2023)
   PUBMED   37798106
  REMARK    GeneRIF: FOXL2: a gene central to ovarian function.
REFERENCE   5  (residues 1 to 376)
  AUTHORS   Lin,Z.B., Chen,Z.J., Yang,H., Ding,X.R., Li,J., Pan,A.P., Sun,H.S.,
            Yu,A.Y. and Chen,S.H.
  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
  JOURNAL   BMC Ophthalmol 23 (1), 446 (2023)
   PUBMED   37932670
  REMARK    GeneRIF: Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup
            revealed by whole-exome sequencing in a rare blepharophimosis,
            ptosis, and epicanthus inversus syndrome family.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 376)
  AUTHORS   Crisponi,L., Deiana,M., Loi,A., Chiappe,F., Uda,M., Amati,P.,
            Bisceglia,L., Zelante,L., Nagaraja,R., Porcu,S., Ristaldi,M.S.,
            Marzella,R., Rocchi,M., Nicolino,M., Lienhardt-Roussie,A.,
            Nivelon,A., Verloes,A., Schlessinger,D., Gasparini,P., Bonneau,D.,
            Cao,A. and Pilia,G.
  TITLE     The putative forkhead transcription factor FOXL2 is mutated in
            blepharophimosis/ptosis/epicanthus inversus syndrome
  JOURNAL   Nat Genet 27 (2), 159-166 (2001)
   PUBMED   11175783
REFERENCE   7  (residues 1 to 376)
  AUTHORS   Kaestner,K.H., Knochel,W. and Martinez,D.E.
  TITLE     Unified nomenclature for the winged helix/forkhead transcription
            factors
  JOURNAL   Genes Dev 14 (2), 142-146 (2000)
   PUBMED   10702024
REFERENCE   8  (residues 1 to 376)
  AUTHORS   Vaiman,D., Schibler,L., Oustry-Vaiman,A., Pailhoux,E.,
            Goldammer,T., Stevanovic,M., Furet,J.P., Schwerin,M., Cotinot,C.,
            Fellous,M. and Cribiu,E.P.
  TITLE     High-resolution human/goat comparative map of the goat
            polled/intersex syndrome (PIS): the human homologue is contained in
            a human YAC from HSA3q23
  JOURNAL   Genomics 56 (1), 31-39 (1999)
   PUBMED   10036183
REFERENCE   9  (residues 1 to 376)
  AUTHORS   Verdin,H., Matton,C. and De Baere,E.
  TITLE     Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301614
REFERENCE   10 (residues 1 to 376)
  AUTHORS   de Die-Smulders,C.E., Engelen,J.J., Donk,J.M. and Fryns,J.P.
  TITLE     Further evidence for the location of the BPES gene at 3q2
  JOURNAL   J Med Genet 28 (10), 725 (1991)
   PUBMED   1941972
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC062549.1, BF515406.1,
            BX095729.1 and AC092947.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 4, 2006 this sequence version replaced XP_945630.1.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AF301906.1, DQ089672.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648323.1/ ENSP00000497217.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..376
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     Protein         1..376
                     /product="forkhead box protein L2"
                     /note="forkhead transcription factor FOXL2"
                     /calculated_mol_wt=38641
     Region          1..53
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P58012.1)"
     Site            33
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P58012.1)"
     Region          54..142
                     /region_name="FH_FOXL2"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     L2 (FOXL2) and similar proteins; cd20028"
                     /db_xref="CDD:410802"
     Site            order(59,77..78,81,100..101,103..104,107,114,124..126,128)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410802"
     Region          276..342
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P58012.1)"
     CDS             1..376
                     /gene="FOXL2"
                     /gene_synonym="BPES; BPES1; PFRK; PINTO; POF3"
                     /coded_by="NM_023067.4:416..1546"
                     /db_xref="CCDS:CCDS3105.1"
                     /db_xref="GeneID:668"
                     /db_xref="HGNC:HGNC:1092"
                     /db_xref="MIM:605597"
ORIGIN      
        1 mmasypeped aagallapet grtvkepegp ppspgkgggg gggtapekpd paqkppysyv
       61 aliamaires aekrltlsgi yqyiiakfpf yeknkkgwqn sirhnlslne cfikvpregg
      121 gerkgnywtl dpacedmfek gnyrrrrrmk rpfrpppahf qpgkglfgag gaaggcgvag
      181 agadgygyla ppkylqsgfl nnswplpqpp spmpyascqm aaaaaaaaaa aaaagpgspg
      241 aaavvkglag paasygpytr vqsmalppgv vnsynglggp paappppphp hphphahhlh
      301 aaaapppapp hhgaaapppg qlspaspata appapaptsa pglqfacarq pelammhcsy
      361 wdhdsktgal hsrldl
//
