LOCUS       NM_000348               4519 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens steroid 5 alpha-reductase 2 (SRD5A2), mRNA.
ACCESSION   NM_000348
VERSION     NM_000348.4
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 4519)
  AUTHORS   Sharkey,C., Long,X., Al-Faouri,R., Strand,D., Olumi,A.F. and
            Wang,Z.
  TITLE     Enhanced prostatic Esr1+ luminal epithelial cells in the absence of
            SRD5A2
  JOURNAL   J Pathol 263 (3), 300-314 (2024)
   PUBMED   38606616
  REMARK    GeneRIF: Enhanced prostatic Esr1[+] luminal epithelial cells in the
            absence of SRD5A2.
REFERENCE   2  (bases 1 to 4519)
  AUTHORS   Schiffer,L., Arlt,W. and Storbeck,K.H.
  TITLE     5alpha-reduction of epitestosterone is catalysed by human SRD5A1
            and SRD5A2 and increases androgen receptor transactivation
  JOURNAL   J Steroid Biochem Mol Biol 241, 106516 (2024)
   PUBMED   38582131
  REMARK    GeneRIF: 5alpha-reduction of epitestosterone is catalysed by human
            SRD5A1 and SRD5A2 and increases androgen receptor transactivation.
REFERENCE   3  (bases 1 to 4519)
  AUTHORS   Chen,Y., Hu,J., Peng,L. and Zhao,Y.
  TITLE     MicroR-1199-5p targeting SRD5A2 promotes the biological behavior
            and EMT of hypospadias cells
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (6), 122-128 (2024)
   PUBMED   38836672
  REMARK    GeneRIF: MicroR-1199-5p targeting SRD5A2 promotes the biological
            behavior and EMT of hypospadias cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4519)
  AUTHORS   Zhang,W., Yu,B., Luo,W., Sun,B., Zhang,X., Wang,X., Mao,J., Nie,M.
            and Wu,X.
  TITLE     In vitro functional study of fifteen SRD5A2 variants found in
            Chinese patients and the relation between the SRD5A2 genotypes and
            phenotypes
  JOURNAL   J Steroid Biochem Mol Biol 235, 106421 (2023)
   PUBMED   37918676
  REMARK    GeneRIF: In vitro functional study of fifteen SRD5A2 variants found
            in Chinese patients and the relation between the SRD5A2 genotypes
            and phenotypes.
REFERENCE   5  (bases 1 to 4519)
  AUTHORS   Duan,H., Wang,X., Qi,W., Shi,J., Han,L., Wang,G., Xu,Y., Liu,J. and
            Wang,J.
  TITLE     Two genetic variants in the SRD5A2 gene are found to be associated
            with sex differences in the disease characteristics of patients
            with chronic hepatitis B virus infection
  JOURNAL   Biol Sex Differ 14 (1), 68 (2023)
   PUBMED   37784175
  REMARK    GeneRIF: Two genetic variants in the SRD5A2 gene are found to be
            associated with sex differences in the disease characteristics of
            patients with chronic hepatitis B virus infection.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4519)
  AUTHORS   Boudon,C., Lobaccaro,J.M., Lumbroso,S., Ogur,G., Ocal,G., Belon,C.
            and Sultan,C.
  TITLE     A new deletion of the 5 alpha-reductase type 2 gene in a Turkish
            family with 5 alpha-reductase deficiency
  JOURNAL   Clin Endocrinol (Oxf) 43 (2), 183-188 (1995)
   PUBMED   7554313
REFERENCE   7  (bases 1 to 4519)
  AUTHORS   Thigpen,A.E., Davis,D.L., Gautier,T., Imperato-McGinley,J. and
            Russell,D.W.
  TITLE     Brief report: the molecular basis of steroid 5 alpha-reductase
            deficiency in a large Dominican kindred
  JOURNAL   N Engl J Med 327 (17), 1216-1219 (1992)
   PUBMED   1406794
REFERENCE   8  (bases 1 to 4519)
  AUTHORS   Thigpen,A.E., Davis,D.L., Milatovich,A., Mendonca,B.B.,
            Imperato-McGinley,J., Griffin,J.E., Francke,U., Wilson,J.D. and
            Russell,D.W.
  TITLE     Molecular genetics of steroid 5 alpha-reductase 2 deficiency
  JOURNAL   J Clin Invest 90 (3), 799-809 (1992)
   PUBMED   1522235
REFERENCE   9  (bases 1 to 4519)
  AUTHORS   Labrie,F., Sugimoto,Y., Luu-The,V., Simard,J., Lachance,Y.,
            Bachvarov,D., Leblanc,G., Durocher,F. and Paquet,N.
  TITLE     Structure of human type II 5 alpha-reductase gene
  JOURNAL   Endocrinology 131 (3), 1571-1573 (1992)
   PUBMED   1505484
REFERENCE   10 (bases 1 to 4519)
  AUTHORS   Andersson,S., Berman,D.M., Jenkins,E.P. and Russell,D.W.
  TITLE     Deletion of steroid 5 alpha-reductase 2 gene in male
            pseudohermaphroditism
  JOURNAL   Nature 354 (6349), 159-161 (1991)
   PUBMED   1944596
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC112252.1 and AL133247.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000348.3.
            
            Summary: This gene encodes a microsomal protein expressed at high
            levels in androgen-sensitive tissues such as the prostate. The
            encoded protein is active at acidic pH and is sensitive to the
            4-azasteroid inhibitor finasteride. Deficiencies in this gene can
            result in male pseudohermaphroditism, specifically pseudovaginal
            perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803613.255676.1, M74047.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000622030.2/ ENSP00000477587.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1148              BC112252.1         21-1168
            1149-2413           AL133247.1         36928-38192         c
            2414-4519           AL133247.1         34822-36927         c
FEATURES             Location/Qualifiers
     source          1..4519
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.1"
     gene            1..4519
                     /gene="SRD5A2"
                     /note="steroid 5 alpha-reductase 2"
                     /db_xref="GeneID:6716"
                     /db_xref="HGNC:HGNC:11285"
                     /db_xref="MIM:607306"
     exon            1..319
                     /gene="SRD5A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..803
                     /gene="SRD5A2"
                     /EC_number="1.3.1.22"
                     /note="S5AR 2; SR type 2; 5 alpha-SR2; type II 5-alpha
                     reductase; steroid-5-alpha-reductase, alpha polypeptide 2
                     (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)"
                     /codon_start=1
                     /product="3-oxo-5-alpha-steroid 4-dehydrogenase 2"
                     /protein_id="NP_000339.2"
                     /db_xref="CCDS:CCDS74503.1"
                     /db_xref="GeneID:6716"
                     /db_xref="HGNC:HGNC:11285"
                     /db_xref="MIM:607306"
                     /translation="MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAA
                     TRLPARAAWFLQELPSFAVPAGILARQPLSLFGPPGTVLLGLFCLHYFHRTFVYSLLN
                     RGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGIN
                     IHSDYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAF
                     FSLCFLGLRAFHHHRFYLKMFEDYPKSRKALIPFIF"
     exon            320..483
                     /gene="SRD5A2"
                     /inference="alignment:Splign:2.1.0"
     exon            484..585
                     /gene="SRD5A2"
                     /inference="alignment:Splign:2.1.0"
     exon            586..736
                     /gene="SRD5A2"
                     /inference="alignment:Splign:2.1.0"
     exon            737..4519
                     /gene="SRD5A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2393..2398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A2"
                     /note="hexamer: ATTAAA"
     polyA_site      2415
                     /gene="SRD5A2"
                     /note="major polyA site"
     regulatory      4485..4490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A2"
                     /note="hexamer: AATAAA"
     polyA_site      4519
                     /gene="SRD5A2"
ORIGIN      
        1 ctgggagggc agcggccacc ggcgaggaac acggcgcgat gcaggttcag tgccagcaga
       61 gcccagtgct ggcaggcagc gccactttgg tcgcccttgg ggcactggcc ttgtacgtcg
      121 cgaagccctc cggctacggg aagcacacgg agagcctgaa gccggcggct acccgcctgc
      181 cagcccgcgc cgcctggttc ctgcaggagc tgccttcctt cgcggtgccc gcggggatcc
      241 tcgcccggca gcccctctcc ctcttcgggc cacctgggac ggtacttctg ggcctcttct
      301 gcctacatta cttccacagg acatttgtgt actcactgct caatcgaggg aggccttatc
      361 cagctatact cattctcaga ggcactgcct tctgcactgg aaatggagtc cttcaaggct
      421 actatctgat ttactgtgct gaataccctg atgggtggta cacagacata cggtttagct
      481 tgggtgtctt cttatttatt ttgggaatgg gaataaacat tcatagtgac tatatattgc
      541 gccagctcag gaagcctgga gaaatcagct acaggattcc acaaggtggc ttgtttacgt
      601 atgtttctgg agccaatttc ctcggtgaga tcattgaatg gatcggctat gccctggcca
      661 cttggtccct cccagcactt gcatttgcat ttttctcact ttgtttcctt gggctgcgag
      721 cttttcacca ccataggttc tacctcaaga tgtttgagga ctaccccaaa tctcggaaag
      781 cccttattcc attcatcttt taaaggaacc aaattaaaaa ggagcagagc tcccacaatg
      841 ctgatgaaaa ctgtcaagct gctgaaactg taattttcat gatataatag tcccgtatat
      901 atgtaatagt aggtctcctg gcgttctgcc agctggcctg gggattctga gtggtgtctg
      961 cttagagttt actcctaccc ttccagggac ccctatcctg atccccaact gaagcttcaa
     1021 aaagccactt ttccaaatgg cgacagttgc ttcttagcta ttgctctgag aaagtacaaa
     1081 cttctcctat gtctttcacc gggcaatcca agtacatgtg gcttcatacc cactccctgt
     1141 caatgcagga caactctgta atcaagaatt ttttgacttg aaggcagtac ttatagacct
     1201 tattaaaggt atgcatttta tacatgtaac agagtagcag aaatttaaac tctgaagcca
     1261 caaagaccca gagcaaaccc actcccaaat gaaaacccca gtcatggctt cctttttctt
     1321 ggttaattag gaaagatgag aaattattag gtagaccttg aatacaggag ccctctcctc
     1381 atagtgctga aaagatactg atgcattgac ctcatttcaa atttgtgcag tgtcttagtt
     1441 gatgagtgcc tctgttttcc agaagatttc acaatccccg gaaaactggt atggctattc
     1501 ttgaaggcca ggttttaata accacaaaca aaaaggcatg aacctgggtg gcttatgaga
     1561 gagtagagaa caacatgacc ctggatggct actaagagga tagagaacag ttttacaata
     1621 gacattgcaa actctcatgt ttttggaaac tagtggcaat atccaaataa tgagtagtgt
     1681 aaaacaaaga gaattaatga tgaggttaca tgctgcttgc ctccaccaga tgtccacaac
     1741 aatatgaagt acagcagaag ccccaagcaa ctttcctttc ctggagcttc ttccttgtag
     1801 ttctcaggac ctgttcaaga aggtgtctcc taggggcagc ctgaatgcct ccctcaaagg
     1861 acctgcaggc agagactgaa aattgcagac agaggggcac gtctgggcag aaaacctgtt
     1921 ttgtttggct cagacatata gttttttttt tttttacaaa gtttcaaaaa cttaaaaatc
     1981 aggagattcc ttcataaaac tctagcattc tagtttcatt taaaaagttg gaggatctga
     2041 acatacagag cccacatttc cacaccagaa ctggaactac gtagctagta agcatttgag
     2101 tttgcaaact cttgtgaagg ggtcacccca gcatgagtgc tgagatatgg actctctaag
     2161 gaaggggccg aacgcttgta attggaatac atggaaatat ttgtcttctc aggcctatgt
     2221 ttgcggaatg cattgtcaat atttagcaaa ctgttttgac aaatgagcac cagtggtact
     2281 aagcacagaa actcactata taagtcacat aggaaacttg aaaggtctga ggatgatgta
     2341 gattactgaa aaatgcaaat tgcaatcata taaataagtg tttttgttgt tcattaaata
     2401 cctttaaatc atggatgtta agcagttttg tttgaattaa aatatcctgg gacttctgga
     2461 gattttcaca aggtattggg gtgtgcttcc ctgtcccgcc tgtccctcat tcccattcac
     2521 cctgtctgta gtgtcgtttc ctttcttctc ttctctcttc atgaaattag gggctgtgtg
     2581 ctggaaataa agaagtatga cttatacagc ctctcagcca caattcagaa ctacaaggaa
     2641 gtacaataaa ggtgcaggaa aacgtcatga ggttagatgc cactcctggt gctgaggaat
     2701 acacaggggg aatgaacaca cttggtgaag taaatcttca ggtgtagctt gagctctgtg
     2761 acataaaaga cttccagttc tctccatgac attgaaaact accttgctta agtcctttat
     2821 tttactacca tgtaaaacat ccaggccggt ccttgagatg aaataaatat acaataaatg
     2881 gcagtactca gtctcaggac aaaaccgcca tttggcaatt tcactttttg ccacaagagg
     2941 gcgctttcta aaatagtatt tagtccaacc ttgacttaat taggtccaac cccagtcctg
     3001 ttgcctgatc gtggaccttt caagttagca tgatcgtgga acttcttaat ctgaatatag
     3061 ggtagagtag cgtgaactct atgaaagctg aaaccttccc ttgataattc aggtattctc
     3121 agtgttctag ggctgttgtg ttcaatgaca gtttgtcatt gtttagggct aggatatgta
     3181 tgtggattaa atacagtaaa ggtctgaaca tgtgctcatc tctaaacata tttcttccca
     3241 cttttaaaaa tagggtgcaa caaaattata gttaattgag gtttccatgg actgtttttt
     3301 ggctaaaata atctaacagt gtcctagctc acaagatact ctatcttggt cttgctgaag
     3361 ctttcacgga agaggcgttt tcctgccaac cttgaagaaa atgttgagtt ttgtttgttt
     3421 ttcagaattt agacttaaag agctgaagca gacctcagac atcagctatt cctaccactt
     3481 cacattatag gtagtgacac tgagacccac agagttaaaa ggcctcctca cagctggtac
     3541 agagctggtc agagcagcca tctcattttg tccctttgag ggtcagatgt atgcttcttc
     3601 tgcttaaggc acagccttta gggctgccat ctggatttct acagagctca tgcaggagaa
     3661 aaatagccag agcttaagtg ctgttgcata gttcagttta tacacctatt gtcccatgcc
     3721 tgtttgtgtg tgaggcttcc ctcgctccgt gggagcacca ggctcatgcc ctttcataaa
     3781 cctatttgac agaatagaga gttttccctc attggtgtag tcaagacaac atgtgtgttc
     3841 agcatggaaa aaaggtttca ggtcataaac ccccttatcc ctaatgctta ctttcataaa
     3901 gaacaacagt ggctccactg tattctaaaa ggaaaaagga gctctaatga gaaatacgca
     3961 attaaacagc tatttaggcg gcttagaccc tttcaggaac aaataaataa atccgtggtt
     4021 ttacaaccct gaagtttgat aatagctctc ttggattttt gtggttacct catggcaatc
     4081 tcactaagaa gcaggggagc aagctcttgg cacatgaagg aataggctca tgaagattca
     4141 tttcttttcc cgcttggcct tttggttctc taataagctg tgagctgagg tccatgcagg
     4201 gaaaacaagg agggtaacgg caaatgtaaa gtgaattttt ctggagaagg atgctgatta
     4261 ttttatagca tctacactat cctatgatga aagaggcata gagccgggtg gcaatgtgag
     4321 ttcttgggtg atttaataag ccatcgagtg gatttaattt ctaagtaaga catttgttta
     4381 ttctttgtac aagtccatgg agttgtgatc ttaaagagtt ctgtgttatt tgcattgtgc
     4441 ctcatttctc cccatcaacc ttagcttgag atttggatga ataaaataaa taactggaga
     4501 aggttaaagt atgcaccaa
//
