LOCUS       NM_000196               1896 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens hydroxysteroid 11-beta dehydrogenase 2 (HSD11B2),
            mRNA.
ACCESSION   NM_000196
VERSION     NM_000196.4
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 1896)
  AUTHORS   Deng,F., Lei,J., Chen,J., Zhao,M., Zhao,C., Fu,M., Sun,M.,
            Zhang,M., Qiu,J. and Gao,Q.
  TITLE     DNA methylation-mediated 11betaHSD2 downregulation drives the
            increases in angiotensin-converting enzyme and angiotensin II
            within preeclamptic placentas
  JOURNAL   FASEB J 38 (11), e23714 (2024)
   PUBMED   38814727
  REMARK    GeneRIF: DNA methylation-mediated 11betaHSD2 downregulation drives
            the increases in angiotensin-converting enzyme and angiotensin II
            within preeclamptic placentas.
REFERENCE   2  (bases 1 to 1896)
  AUTHORS   Vassiliou,A.G., Vassiliadi,D.A., Keskinidou,C., Jahaj,E.,
            Botoula,E., Tsagarakis,S., Kotanidou,A. and Dimopoulou,I.
  TITLE     Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients
  JOURNAL   Clin Med Res 21 (1), 6-13 (2023)
   PUBMED   37130784
  REMARK    GeneRIF: Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients.
REFERENCE   3  (bases 1 to 1896)
  AUTHORS   Wei,X., Yuan,Y. and Yang,Q.
  TITLE     Long noncoding RNA PVT1 accelerates the growth of placental
            trophoblasts in preeclampsia through the microRNA-24-3p/HSD11B2
            axis
  JOURNAL   Mol Reprod Dev 89 (7), 271-280 (2022)
   PUBMED   35735229
  REMARK    GeneRIF: Long noncoding RNA PVT1 accelerates the growth of
            placental trophoblasts in preeclampsia through the
            microRNA-24-3p/HSD11B2 axis.
REFERENCE   4  (bases 1 to 1896)
  AUTHORS   De Santis,D., Castagna,A., Danese,E., Udali,S., Martinelli,N.,
            Morandini,F., Veneri,M., Bertolone,L., Olivieri,O., Friso,S. and
            Pizzolo,F.
  TITLE     Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful
            Novel Tool for the Diagnostic Approach of Dysfunctional
            11beta-HSD2-Related Hypertension
  JOURNAL   Front Endocrinol (Lausanne) 12, 681974 (2021)
   PUBMED   34497581
  REMARK    GeneRIF: Detection of Urinary Exosomal HSD11B2 mRNA Expression: A
            Useful Novel Tool for the Diagnostic Approach of Dysfunctional
            11beta-HSD2-Related Hypertension.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1896)
  AUTHORS   Lamade,E.K., Hendlmeier,F., Wudy,S.A., Witt,S.H., Rietschel,M.,
            Coenen,M., Gilles,M. and Deuschle,M.
  TITLE     Rhythm of Fetoplacental 11beta-Hydroxysteroid Dehydrogenase Type 2
            - Fetal Protection From Morning Maternal Glucocorticoids
  JOURNAL   J Clin Endocrinol Metab 106 (6), 1630-1636 (2021)
   PUBMED   33621325
  REMARK    GeneRIF: Rhythm of Fetoplacental 11beta-Hydroxysteroid
            Dehydrogenase Type 2 - Fetal Protection From Morning Maternal
            Glucocorticoids.
REFERENCE   6  (bases 1 to 1896)
  AUTHORS   Wilson,R.C., Harbison,M.D., Krozowski,Z.S., Funder,J.W.,
            Shackleton,C.H., Hanauske-Abel,H.M., Wei,J.Q., Hertecant,J.,
            Moran,A., Neiberger,R.E. et al.
  TITLE     Several homozygous mutations in the gene for 11 beta-hydroxysteroid
            dehydrogenase type 2 in patients with apparent mineralocorticoid
            excess
  JOURNAL   J Clin Endocrinol Metab 80 (11), 3145-3150 (1995)
   PUBMED   7593417
REFERENCE   7  (bases 1 to 1896)
  AUTHORS   Wilson,R.C., Krozowski,Z.S., Li,K., Obeyesekere,V.R.,
            Razzaghy-Azar,M., Harbison,M.D., Wei,J.Q., Shackleton,C.H.,
            Funder,J.W. and New,M.I.
  TITLE     A mutation in the HSD11B2 gene in a family with apparent
            mineralocorticoid excess
  JOURNAL   J Clin Endocrinol Metab 80 (7), 2263-2266 (1995)
   PUBMED   7608290
REFERENCE   8  (bases 1 to 1896)
  AUTHORS   Krozowski,Z., Baker,E., Obeyesekere,V. and Callen,D.F.
  TITLE     Localization of the gene for human 11 beta-hydroxysteroid
            dehydrogenase type 2 (HSD11B2) to chromosome band 16q22
  JOURNAL   Cytogenet Cell Genet 71 (2), 124-125 (1995)
   PUBMED   7656579
REFERENCE   9  (bases 1 to 1896)
  AUTHORS   Funder,J.W., Pearce,P.T., Smith,R. and Smith,A.I.
  TITLE     Mineralocorticoid action: target tissue specificity is enzyme, not
            receptor, mediated
  JOURNAL   Science 242 (4878), 583-585 (1988)
   PUBMED   2845584
REFERENCE   10 (bases 1 to 1896)
  AUTHORS   Stewart,P.M., Wallace,A.M., Valentino,R., Burt,D., Shackleton,C.H.
            and Edwards,C.R.
  TITLE     Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid
            dehydrogenase deficiency comes of age
  JOURNAL   Lancet 2 (8563), 821-824 (1987)
   PUBMED   2889032
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009061.10, BC036780.1 and
            BC064536.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000196.3.
            
            Summary: There are at least two isozymes of the corticosteroid
            11-beta-dehydrogenase, a microsomal enzyme complex responsible for
            the interconversion of cortisol and cortisone. The type I isozyme
            has both 11-beta-dehydrogenase (cortisol to cortisone) and
            11-oxoreductase (cortisone to cortisol) activities. The type II
            isozyme, encoded by this gene, has only 11-beta-dehydrogenase
            activity. In aldosterone-selective epithelial tissues such as the
            kidney, the type II isozyme catalyzes the glucocorticoid cortisol
            to the inactive metabolite cortisone, thus preventing illicit
            activation of the mineralocorticoid receptor. In tissues that do
            not express the mineralocorticoid receptor, such as the placenta
            and testis, it protects cells from the growth-inhibiting and/or
            pro-apoptotic effects of cortisol, particularly during embryonic
            development. Mutations in this gene cause the syndrome of apparent
            mineralocorticoid excess and hypertension. [provided by RefSeq, Feb
            2010].
            
            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 :: BC036780.1, U26726.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326152.6/ ENSP00000316786.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC009061.10        127525-127536
            13-1302             BC036780.1         1-1290
            1303-1896           BC064536.1         1291-1884
FEATURES             Location/Qualifiers
     source          1..1896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1896
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="hydroxysteroid 11-beta dehydrogenase 2"
                     /db_xref="GeneID:3291"
                     /db_xref="HGNC:HGNC:5209"
                     /db_xref="MIM:614232"
     exon            1..393
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1346
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /EC_number="1.1.1.146"
                     /note="short chain dehydrogenase/reductase family 9C
                     member 3; corticosteroid 11-beta-dehydrogenase isozyme 2;
                     11-DH2; 11-beta-HSD2; NAD-dependent 11-beta-hydroxysteroid
                     dehydrogenase; -HSD11 type II; 11-beta-hydroxysteroid
                     dehydrogenase type II; 11-HSD type II; 11-beta-HSD type
                     II"
                     /codon_start=1
                     /product="11-beta-hydroxysteroid dehydrogenase type 2"
                     /protein_id="NP_000187.3"
                     /db_xref="CCDS:CCDS10837.1"
                     /db_xref="GeneID:3291"
                     /db_xref="HGNC:HGNC:5209"
                     /db_xref="MIM:614232"
                     /translation="MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAAL
                     DWLCQRLLPPPAALAVLAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKL
                     DSMGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTG
                     LWGLVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVG
                     SPAGDMPYPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQW
                     EKRKQLLLANLPQELLQAYGKDYIEHLHGQFLHSLRLAMSDLTPVVDAITDALLAARP
                     RRRYYPGQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQD
                     PNLSPGPSPAVAR"
     exon            394..606
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /inference="alignment:Splign:2.1.0"
     exon            607..792
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /inference="alignment:Splign:2.1.0"
     exon            793..930
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1896
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1867..1872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="hexamer: AATAAA"
     polyA_site      1896
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="major polyA site"
ORIGIN      
        1 gaaagcgagt gtccctctcg cgccccaggc cggtgtaccc ccgcactccg cgccccggcc
       61 tagaagctct ctctccccgc tccccggccc ggcccccgcc ccgccccgcc ccagcccgct
      121 gggccgccat ggagcgctgg ccttggccgt cgggcggcgc ctggctgctc gtggctgccc
      181 gcgcgctgct gcagctgctg cgctcagacc tgcgtctggg ccgcccgctg ctggcggcgc
      241 tggcgctgct ggccgcgctc gactggctgt gccagcgcct gctgcccccg ccggccgcac
      301 tcgccgtgct ggccgccgcc ggctggatcg cgttgtcccg cctggcgcgc ccgcagcgcc
      361 tgccggtggc cactcgcgcg gtgctcatca ccggctgtga ctctggtttt ggcaaggaga
      421 cggccaagaa actggactcc atgggcttca cggtgctggc caccgtattg gagttgaaca
      481 gccccggtgc catcgagctg cgtacctgct gctcccctcg cctaaggctg ctgcagatgg
      541 acctgaccaa accaggagac attagccgcg tgctagagtt caccaaggcc cacaccacca
      601 gcaccggcct gtggggcctc gtcaacaacg caggccacaa tgaagtagtt gctgatgcgg
      661 agctgtctcc agtggccact ttccgtagct gcatggaggt gaatttcttt ggcgcgctcg
      721 agctgaccaa gggcctcctg cccctgctgc gcagctcaag gggccgcatc gtgactgtgg
      781 ggagcccagc gggggacatg ccatatccgt gcttgggggc ctatggaacc tccaaagcgg
      841 ccgtggcgct actcatggac acattcagct gtgaactcct tccctggggg gtcaaggtca
      901 gcatcatcca gcctggctgc ttcaagacag agtcagtgag aaacgtgggt cagtgggaaa
      961 agcgcaagca attgctgctg gccaacctgc ctcaagagct gctgcaggcc tacggcaagg
     1021 actacatcga gcacttgcat gggcagttcc tgcactcgct acgcctggcc atgtccgacc
     1081 tcaccccagt tgtagatgcc atcacagatg cgctgctggc agctcggccc cgccgccgct
     1141 attaccccgg ccagggcctg gggctcatgt acttcatcca ctactacctg cctgaaggcc
     1201 tgcggcgccg cttcctgcag gccttcttca tcagtcactg tctgcctcga gcactgcagc
     1261 ctggccagcc tggcactacc ccaccacagg acgcagccca ggacccaaac ctgagccccg
     1321 gcccttcccc agcagtggct cggtgagcca tgtgcaccta tggcccagcc actgcagcac
     1381 aggaggctcc gtgagccctt ggttcctccc cgaaaacccc cagcattacg atcccccaag
     1441 tgtcctggac cctggcctaa agaatcccac ccccacttca tgcccactgc cgatgcccaa
     1501 tccaggcccg gtgaggccaa ggtttcccag tgagcctctg cgcctctcca ctgtttcatg
     1561 agcccaaaca ccctcctggc acaacgctct accctgcagc ttggagaact ccgctggatg
     1621 gggagtctca tgcaagactt cactgcagcc tttcacagga ctctgcagat agtgcctctg
     1681 caaactaagg agtgactagg tgggttgggg accccctcag gattgtttct cggcaccagt
     1741 gcctcagtgc tgcaattgag ggctaaatcc caagtgtctc ttgactggct caagaattag
     1801 ggccccaact acacaccccc aagccacagg gaagcatgta ctgtacttcc caattgccac
     1861 attttaaata aagacaaatt tttatttctt ctaaaa
//
