LOCUS       NM_023067               2914 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens forkhead box L2 (FOXL2), mRNA.
ACCESSION   NM_023067 XM_940537
VERSION     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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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  (bases 1 to 2914)
  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 (bases 1 to 2914)
  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 Oct 17, 2018 this sequence version replaced NM_023067.3.
            
            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##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2326              BC062549.1         4-2329
            2327-2380           BF515406.1         43-96
            2381-2899           BX095729.1         1-519
            2900-2900           AC092947.12        65625-65625         c
            2901-2914           BX095729.1         521-534
FEATURES             Location/Qualifiers
     source          1..2914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..2914
                     /gene="FOXL2"
                     /gene_synonym="BPES; BPES1; PFRK; PINTO; POF3"
                     /note="forkhead box L2"
                     /db_xref="GeneID:668"
                     /db_xref="HGNC:HGNC:1092"
                     /db_xref="MIM:605597"
     exon            1..2914
                     /gene="FOXL2"
                     /gene_synonym="BPES; BPES1; PFRK; PINTO; POF3"
                     /inference="alignment:Splign:2.1.0"
     CDS             416..1546
                     /gene="FOXL2"
                     /gene_synonym="BPES; BPES1; PFRK; PINTO; POF3"
                     /note="forkhead transcription factor FOXL2"
                     /codon_start=1
                     /product="forkhead box protein L2"
                     /protein_id="NP_075555.1"
                     /db_xref="CCDS:CCDS3105.1"
                     /db_xref="GeneID:668"
                     /db_xref="HGNC:HGNC:1092"
                     /db_xref="MIM:605597"
                     /translation="MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGT
                     APEKPDPAQKPPYSYVALIAMAIRESAEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSI
                     RHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHF
                     QPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASC
                     QMAAAAAAAAAAAAAAGPGSPGAAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNG
                     LGGPPAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPA
                     PAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLDL"
     regulatory      2889..2894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXL2"
                     /gene_synonym="BPES; BPES1; PFRK; PINTO; POF3"
                     /note="hexamer: AATAAA"
     polyA_site      2914
                     /gene="FOXL2"
                     /gene_synonym="BPES; BPES1; PFRK; PINTO; POF3"
                     /note="major polyA site"
ORIGIN      
        1 agaacagagc gaggctcctg gcgcactagg gactccagga ggcagctccg ccagagacgc
       61 gggtcgtgct tcgggaaacc ggggggcggg gggaggggaa gagcgcagaa aagaaaaccc
      121 accaaggcgg ggactggcct gagcggggag gggcggcgag gccggagccc ctctctgttg
      181 ggcggactcc ccatggccag aggctgagct ccactcccgc cggccgctcc ctaggggaag
      241 gggaaggaga ggggagagca gcgacaggcc tccagcaagc aagcgcgggc ggcatccgca
      301 gtctccagaa gtttgagact tggccgtaag cggactcgtg cgccccaact ctttgccgcg
      361 ccagcgcctg gagcggagag cagaggcggc ccggccgcgg cgcgccggct ttgtcatgat
      421 ggccagctac cccgagcccg aggacgcggc gggggccctg ctggccccag agaccggtcg
      481 cacagtcaag gagccagaag ggccgccgcc gagcccaggc aagggcggtg ggggtggcgg
      541 cgggacagcc ccggagaagc cggacccggc gcagaagccc ccgtactcgt acgtggcgct
      601 catcgccatg gcgatccgcg agagcgcgga gaagaggctc acgctgtccg gcatctacca
      661 gtacatcatc gcgaagttcc cgttctacga gaagaataag aagggctggc aaaatagcat
      721 ccgccacaac ctcagcctca acgagtgctt catcaaggtg ccgcgcgagg gcggcggcga
      781 gcgcaagggc aactactgga cgctggaccc ggcctgcgaa gacatgttcg agaagggcaa
      841 ctaccggcgc cgccgccgca tgaagaggcc cttccggccg ccgcccgcgc acttccagcc
      901 cggcaagggg ctcttcgggg ccggaggcgc cgcaggcggg tgcggcgtgg cgggcgccgg
      961 ggccgacggc tacggctacc tggcgccccc caagtacctg cagtctggct tcctcaacaa
     1021 ctcgtggccg ctaccgcagc ctccctcacc catgccctat gcctcctgcc agatggcggc
     1081 agccgcagcg gctgcagcag ctgcggctgc agccgcgggc cccggtagcc ctggcgcggc
     1141 cgctgtggtc aaggggctgg cgggcccggc cgcctcgtac gggccgtaca cacgcgtgca
     1201 gagcatggcg ctgccccccg gcgtagtgaa ctcgtacaat ggcctgggag gcccgccggc
     1261 cgcacccccg cctccgccgc acccccaccc gcatccgcac gcacaccatc tgcacgcggc
     1321 cgccgcaccg ccgcctgccc caccgcacca cggggccgcc gcgccgccgc cgggccagct
     1381 cagccctgcc agcccagcca ccgccgcgcc cccggcgccc gcgcccacca gtgcgccggg
     1441 cctgcagttc gcttgtgccc ggcagcccga gctcgccatg atgcattgct cttactggga
     1501 ccacgacagc aagaccggcg cgctgcattc gcgcctcgat ctctgagagc ccaccgcatg
     1561 ccggtgcaga cggatgcgag gatgcaggga cgcgcgacgc cggccccggt cgcagccgac
     1621 gacgccgccg ccagcctgac ctcacaccct ctgggcccgc ctctggagcc agcgcccagg
     1681 gtccctctgt gctttttcgc tttcctaagc tcctgtcgct cctctttgtc ccctcagttt
     1741 atgtcctcct gtgctcacct ccctgacctc tgtgaccttg cactcccctg gcctgaagct
     1801 gcctctctgc gcgctttcta ctgggctcgt ctctttccgg agccccagcg tctcctgccc
     1861 aaattcaccg cggaaagggc ccggggcgga ggtgcgaccg ggcgtcggca gcgcagacct
     1921 cttggccttc tctcacaggt cggtgcgctc gctctccgcg ttccccgccc gactgccgtg
     1981 cagtccatgg ctagacgcgc cggacaggac tgatggcggg accgcgctgc ccgagaaagg
     2041 gacggaccaa tacgtgtgtt tgctccgcga accctcttga agctgttcag aagccgcttg
     2101 ccgcggggcc cactaggcgg ggcgggggtt gggacccagc gggagccggg gcagcctggc
     2161 tccacggcct gtactcggtt tacaccgcgg gcgggcgcgg agggaggctg cgtttcctcc
     2221 gctatcagtc ccgtcgcttc gggcacctcc gggccccggc ggctggctaa tgttttgttt
     2281 gaaagatcgg tggaactttt taagagagta tttaaaaaaa aaaaaaggaa aaaaaattca
     2341 ccgggcaacc ggggaagtat tgtggccttg gagtttgcta aatccaaata tgaaaatcaa
     2401 aagctttagt attcctcatc ttctcttctg gaagatttgc gttagagttt ttgttgggcc
     2461 ttcaaaaagc tgtgttcaga gttaggagaa tatatccaat aaaagatggt ttcgtctacc
     2521 aattggggaa gtttcaccct ctccctatct gaagaaaaaa atcaaaaaca aatgtccccg
     2581 gatctttcga tgcaagtcct ggaggcaggg agatcactgc ctgcctggcc cacgctgctg
     2641 ggacggctcg tcctccctgc tttttgtttt tcaaacctcc tgcttctccc accttgggaa
     2701 ggagaaatgt gaaacccggc agcggccgac ctaggcggtc ttgtggcccg gagccggccc
     2761 ggcccgaaaa ccatagacct ggttgtactg tagcttgttg tttgggggac caaattttct
     2821 agagagaact agagcacttt tgttgtgttt ttttgttttg tttttgtttt ttgccttgtc
     2881 gattcccgaa taaattttgt gttccttctt ttaa
//
