LOCUS       NP_068556                463 aa            linear   PRI 23-APR-2025
DEFINITION  hepatocyte nuclear factor 3-beta isoform 1 [Homo sapiens].
ACCESSION   NP_068556
VERSION     NP_068556.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 463)
  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  (residues 1 to 463)
  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  (residues 1 to 463)
  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  (residues 1 to 463)
  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  (residues 1 to 463)
  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  (residues 1 to 463)
  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  (residues 1 to 463)
  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  (residues 1 to 463)
  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  (residues 1 to 463)
  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 (residues 1 to 463)
  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 Jul 24, 2008 this sequence version replaced NP_068556.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..463
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     Protein         1..463
                     /product="hepatocyte nuclear factor 3-beta isoform 1"
                     /note="hepatic nuclear factor-3-beta; hepatocyte nuclear
                     factor 3-beta; forkhead box protein A2; transcription
                     factor 3B"
                     /calculated_mol_wt=48776
     Region          23..164
                     /region_name="Forkhead_N"
                     /note="Forkhead N-terminal region; pfam08430"
                     /db_xref="CDD:369872"
     Region          163..264
                     /region_name="FH_FOXA2"
                     /note="Forkhead (FH) domain found in Forkhead box protein
                     A2 (FOXA2) and similar proteins; cd20039"
                     /db_xref="CDD:410813"
     Site            order(169..171,188..189,192,208,211..212,214..215,218,225,
                     234,236..237,239,255..257,259..260)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:410813"
     Region          379..452
                     /region_name="HNF_C"
                     /note="HNF3 C-terminal domain; pfam09354"
                     /db_xref="CDD:430552"
     CDS             1..463
                     /gene="FOXA2"
                     /gene_synonym="HNF-3-beta; HNF3B; TCF3B"
                     /coded_by="NM_021784.5:295..1686"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46585.1"
                     /db_xref="GeneID:3170"
                     /db_xref="HGNC:HGNC:5022"
                     /db_xref="MIM:600288"
ORIGIN      
        1 mhsassmlga vkmeghepsd wssyyaepeg yssvsnmnag lgmngmntym smsaaamgsg
       61 sgnmsagsmn mssyvgagms pslagmspga gamagmggsa gaagvagmgp hlspslsplg
      121 gqaagamggl apyanmnsms pmygqaglsr ardpktyrrs ythakppysy islitmaiqq
      181 spnkmltlse iyqwimdlfp fyrqnqqrwq nsirhslsfn dcflkvprsp dkpgkgsfwt
      241 lhpdsgnmfe ngcylrrqkr fkcekqlalk eaagaagsgk kaaagaqasq aqlgeaagpa
      301 setpagtesp hssaspcqeh krgglgelkg tpaaalsppe papspgqqqq aaahllgpph
      361 hpglppeahl kpehhyafnh pfsinnlmss eqqhhhshhh hqphkmdlka yeqvmhypgy
      421 gspmpgslam gpvtnktgld asplaadtsy yqgvysrpim nss
//
