LOCUS       NM_021784               2538 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.
ACCESSION   NM_021784
VERSION     NM_021784.5
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 2538)
  AUTHORS   Laver,T.W., Wakeling,M.N., Caswell,R.C., Bunce,B., Yau,D.,
            Mannisto,J.M.E., Houghton,J.A.L., Hopkins,J.J., Weedon,M.N.,
            Saraff,V., Kershaw,M., Honey,E.M., Murphy,N., Giri,D., Nath,S.,
            Tangari Saredo,A., Banerjee,I., Hussain,K., Owens,N.D.L. and
            Flanagan,S.E.
  TITLE     Chromosome 20p11.2 deletions cause congenital hyperinsulinism via
            the loss of FOXA2 or its regulatory elements
  JOURNAL   Eur J Hum Genet 32 (7), 813-818 (2024)
   PUBMED   38605124
  REMARK    GeneRIF: Chromosome 20p11.2 deletions cause congenital
            hyperinsulinism via the loss of FOXA2 or its regulatory elements.
REFERENCE   2  (bases 1 to 2538)
  AUTHORS   Wang,Z., Townley,S.L., Zhang,S., Liu,M., Li,M., Labaf,M.,
            Patalano,S., Venkataramani,K., Siegfried,K.R., Macoska,J.A.,
            Han,D., Gao,S., Risbridger,G.P., Taylor,R.A., Lawrence,M.G.,
            He,H.H., Selth,L.A. and Cai,C.
  TITLE     FOXA2 rewires AP-1 for transcriptional reprogramming and lineage
            plasticity in prostate cancer
  JOURNAL   Nat Commun 15 (1), 4914 (2024)
   PUBMED   38851846
  REMARK    GeneRIF: FOXA2 rewires AP-1 for transcriptional reprogramming and
            lineage plasticity in prostate cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2538)
  AUTHORS   Ricci,C., Ambrosi,F., Grillini,A., Massari,F., Fiorentino,M.,
            Colecchia,M., Ulbright,T.M. and Acosta,A.M.
  TITLE     Analysis of GATA3 and FOXA2 expression suggests that downregulation
            of genes involved in the maintenance of a mature yolk sac tumor
            phenotype may underlie sarcomatoid transformation
  JOURNAL   Virchows Arch 484 (4), 709-713 (2024)
   PUBMED   38141134
  REMARK    GeneRIF: Analysis of GATA3 and FOXA2 expression suggests that
            downregulation of genes involved in the maintenance of a mature
            yolk sac tumor phenotype may underlie sarcomatoid transformation.
REFERENCE   4  (bases 1 to 2538)
  AUTHORS   Hu,C., Ye,M., Bai,J., Liu,P., Lu,F., Chen,J., Xu,Y., Yan,L., Yu,P.,
            Xiao,Z., Gu,D., Xu,L., Tian,Y. and Tang,Q.
  TITLE     FOXA2-initiated transcriptional activation of INHBA induced by
            methylmalonic acid promotes pancreatic neuroendocrine neoplasm
            progression
  JOURNAL   Cell Mol Life Sci 81 (1), 50 (2024)
   PUBMED   38252148
  REMARK    GeneRIF: FOXA2-initiated transcriptional activation of INHBA
            induced by methylmalonic acid promotes pancreatic neuroendocrine
            neoplasm progression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2538)
  AUTHORS   Yang,D., Li,Q., Lu,P., Wu,D., Li,W., Meng,X., Xing,M.,
            Shangguan,W., Chen,B., Yang,J., Zhang,Z., Wang,Z., Huang,D.C.S. and
            Zhao,Q.
  TITLE     FOXA2 activates HIF2alpha expression to promote tumor progression
            and is regulated by the E3 ubiquitin ligase VHL in renal cell
            carcinoma
  JOURNAL   J Biol Chem 300 (1), 105535 (2024)
   PUBMED   38072043
  REMARK    GeneRIF: FOXA2 activates HIF2alpha expression to promote tumor
            progression and is regulated by the E3 ubiquitin ligase VHL in
            renal cell carcinoma.
REFERENCE   6  (bases 1 to 2538)
  AUTHORS   Wang,J.C., Waltner-Law,M., Yamada,K., Osawa,H., Stifani,S. and
            Granner,D.K.
  TITLE     Transducin-like enhancer of split proteins, the human homologs of
            Drosophila groucho, interact with hepatic nuclear factor 3beta
  JOURNAL   J Biol Chem 275 (24), 18418-18423 (2000)
   PUBMED   10748198
REFERENCE   7  (bases 1 to 2538)
  AUTHORS   Nakano,T., Murata,T., Matsuo,I. and Aizawa,S.
  TITLE     OTX2 directly interacts with LIM1 and HNF-3beta
  JOURNAL   Biochem Biophys Res Commun 267 (1), 64-70 (2000)
   PUBMED   10623575
REFERENCE   8  (bases 1 to 2538)
  AUTHORS   Yamada,S., Zhu,Q., Aihara,Y., Onda,H., Zhang,Z., Yu,L., Jin,L.,
            Si,Y.J., Nishigori,H., Tomura,H., Inoue,I., Morikawa,A.,
            Yamagata,K., Hanafusa,T., Matsuzawa,Y. and Takeda,J.
  TITLE     Cloning of cDNA and the gene encoding human hepatocyte nuclear
            factor (HNF)-3 beta and mutation screening in Japanese subjects
            with maturity-onset diabetes of the young
  JOURNAL   Diabetologia 43 (1), 121-124 (2000)
   PUBMED   10672453
REFERENCE   9  (bases 1 to 2538)
  AUTHORS   Cui,Y., Narayanan,C.S., Zhou,J. and Kumar,A.
  TITLE     Exon-I is involved in positive as well as negative regulation of
            human angiotensinogen gene expression
  JOURNAL   Gene 224 (1-2), 97-107 (1998)
   PUBMED   9931457
REFERENCE   10 (bases 1 to 2538)
  AUTHORS   Mincheva,A., Lichter,P., Schutz,G. and Kaestner,K.H.
  TITLE     Assignment of the human genes for hepatocyte nuclear factor
            3-alpha, -beta, and -gamma (HNF3A, HNF3B, HNF3G) to 14q12-q13,
            20p11, and 19q13.2-q13.4
  JOURNAL   Genomics 39 (3), 417-419 (1997)
   PUBMED   9119385
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121722.9.
            
            On Mar 23, 2020 this sequence version replaced NM_021784.4.
            
            Summary: This gene encodes a member of the forkhead class of
            DNA-binding proteins. These hepatocyte nuclear factors are
            transcriptional activators for liver-specific genes such as albumin
            and transthyretin, and they also interact with chromatin. Similar
            family members in mice have roles in the regulation of metabolism
            and in the differentiation of the pancreas and liver. This gene has
            been linked to sporadic cases of maturity-onset diabetes of the
            young. Transcript variants encoding different isoforms have been
            identified for this gene. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 exon combination :: BC011780.2, SRR11853560.18020.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000419308.7/ ENSP00000400341.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-381               AL121722.9         36074-36454         c
            382-2538            AL121722.9         32880-35036         c
FEATURES             Location/Qualifiers
     source          1..2538
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..2538
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /note="forkhead box A2"
                     /db_xref="GeneID:3170"
                     /db_xref="HGNC:HGNC:5022"
                     /db_xref="MIM:600288"
     exon            1..381
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /inference="alignment:Splign:2.1.0"
     CDS             295..1686
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hepatic nuclear factor-3-beta; hepatocyte nuclear factor
                     3-beta; forkhead box protein A2; transcription factor 3B"
                     /codon_start=1
                     /product="hepatocyte nuclear factor 3-beta isoform 1"
                     /protein_id="NP_068556.2"
                     /db_xref="CCDS:CCDS46585.1"
                     /db_xref="GeneID:3170"
                     /db_xref="HGNC:HGNC:5022"
                     /db_xref="MIM:600288"
                     /translation="MHSASSMLGAVKMEGHEPSDWSSYYAEPEGYSSVSNMNAGLGMN
                     GMNTYMSMSAAAMGSGSGNMSAGSMNMSSYVGAGMSPSLAGMSPGAGAMAGMGGSAGA
                     AGVAGMGPHLSPSLSPLGGQAAGAMGGLAPYANMNSMSPMYGQAGLSRARDPKTYRRS
                     YTHAKPPYSYISLITMAIQQSPNKMLTLSEIYQWIMDLFPFYRQNQQRWQNSIRHSLS
                     FNDCFLKVPRSPDKPGKGSFWTLHPDSGNMFENGCYLRRQKRFKCEKQLALKEAAGAA
                     GSGKKAAAGAQASQAQLGEAAGPASETPAGTESPHSSASPCQEHKRGGLGELKGTPAA
                     ALSPPEPAPSPGQQQQAAAHLLGPPHHPGLPPEAHLKPEHHYAFNHPFSINNLMSSEQ
                     QHHHSHHHHQPHKMDLKAYEQVMHYPGYGSPMPGSLAMGPVTNKTGLDASPLAADTSY
                     YQGVYSRPIMNSS"
     exon            382..2538
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2329..2334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /note="hexamer: ATTAAA"
     polyA_site      2361
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /note="major polyA site"
     regulatory      2514..2519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /note="hexamer: AATAAA"
     polyA_site      2538
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
ORIGIN      
        1 actgccaacc tcagccgcca cccggcagcc cgtgagcgcg gcggcggcgg gtgctcccta
       61 ccgcggggcg ctggcctggg cctcctccgc tcctcgcccc cccccacctc ccgcccactt
      121 ccaactaccg cctccggcct gcccagggag agagagggag tggagcccag ggagagggag
      181 cgcgagagag ggagggagga ggggacggtg ctttggctga ctttttttta aaagagggtg
      241 ggggtggggg gtgattgctg gtcgtttgtt gtggctgtta aattttaaac tgccatgcac
      301 tcggcttcca gtatgctggg agcggtgaag atggaagggc acgagccgtc cgactggagc
      361 agctactatg cagagcccga gggctactcc tccgtgagca acatgaacgc cggcctgggg
      421 atgaacggca tgaacacgta catgagcatg tcggcggccg ccatgggcag cggctcgggc
      481 aacatgagcg cgggctccat gaacatgtcg tcgtacgtgg gcgctggcat gagcccgtcc
      541 ctggcgggga tgtcccccgg cgcgggcgcc atggcgggca tgggcggctc ggccggggcg
      601 gccggcgtgg cgggcatggg gccgcacttg agtcccagcc tgagcccgct cggggggcag
      661 gcggccgggg ccatgggcgg cctggccccc tacgccaaca tgaactccat gagccccatg
      721 tacgggcagg cgggcctgag ccgcgcccgc gaccccaaga cctacaggcg cagctacacg
      781 cacgcaaagc cgccctactc gtacatctcg ctcatcacca tggccatcca gcagagcccc
      841 aacaagatgc tgacgctgag cgagatctac cagtggatca tggacctctt ccccttctac
      901 cggcagaacc agcagcgctg gcagaactcc atccgccact cgctctcctt caacgactgt
      961 ttcctgaagg tgccccgctc gcccgacaag cccggcaagg gctccttctg gaccctgcac
     1021 cctgactcgg gcaacatgtt cgagaacggc tgctacctgc gccgccagaa gcgcttcaag
     1081 tgcgagaagc agctggcgct gaaggaggcc gcaggcgccg ccggcagcgg caagaaggcg
     1141 gccgccggag cccaggcctc acaggctcaa ctcggggagg ccgccgggcc ggcctccgag
     1201 actccggcgg gcaccgagtc gcctcactcg agcgcctccc cgtgccagga gcacaagcga
     1261 gggggcctgg gagagctgaa ggggacgccg gctgcggcgc tgagcccccc agagccggcg
     1321 ccctctcccg ggcagcagca gcaggccgcg gcccacctgc tgggcccgcc ccaccacccg
     1381 ggcctgccgc ctgaggccca cctgaagccg gaacaccact acgccttcaa ccacccgttc
     1441 tccatcaaca acctcatgtc ctcggagcag cagcaccacc acagccacca ccaccaccaa
     1501 ccccacaaaa tggacctcaa ggcctacgaa caggtgatgc actaccccgg ctacggttcc
     1561 cccatgcctg gcagcttggc catgggcccg gtcacgaaca aaacgggcct ggacgcctcg
     1621 cccctggccg cagatacctc ctactaccag ggggtgtact cccggcccat tatgaactcc
     1681 tcttaagaag acgacggctt caggcccggc taactctggc accccggatc gaggacaagt
     1741 gagagagcaa gtgggggtcg agactttggg gagacggtgt tgcagagacg caagggagaa
     1801 gaaatccata acacccccac cccaacaccc ccaagacagc agtcttcttc acccgctgca
     1861 gccgttccgt cccaaacaga gggccacaca gataccccac gttctatata aggaggaaaa
     1921 cgggaaagaa tataaagtta aaaaaaagcc tccggtttcc actactgtgt agactcctgc
     1981 ttcttcaagc acctgcagat tctgattttt ttgttgttgt tgttctcctc cattgctgtt
     2041 gttgcaggga agtcttactt aaaaaaaaaa aaaaattttg tgagtgactc ggtgtaaaac
     2101 catgtagttt taacagaacc agagggttgt actattgttt aaaaacagga aaaaaaataa
     2161 tgtaagggtc tgttgtaaat gaccaagaaa aagaaaaaaa aagcattccc aatcttgaca
     2221 cggtgaaatc caggtctcgg gtccgattaa tttatggttt ctgcgtgctt tatttatggc
     2281 ttataaatgt gtattctggc tgcaagggcc agagttccac aaatctatat taaagtgtta
     2341 tacccggttt tatcccttga atcttttctt ccagattttt cttttcttta cttggcttac
     2401 aaaatataca ggcttggaaa ttatttcaag aaggagggag ggataccctg tctggttgca
     2461 ggttgtattt tattttggcc cagggagtgt tgctgttttc ccaacatttt attaataaaa
     2521 ttttcagaca taccaaaa
//
