LOCUS       NM_000498               2936 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens cytochrome P450 family 11 subfamily B member 2
            (CYP11B2), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000498
VERSION     NM_000498.3
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 2936)
  AUTHORS   Nouhi,Y., Aboubakr,F.Z., Brini,O.E., Benazzouz,B. and Akhouayri,O.
  TITLE     Association of combined -344T/C and K173R polymorphisms in
            aldosterone synthase gene with type 2 diabetes mellitus in the
            Moroccan population
  JOURNAL   Rom J Intern Med 62 (3), 323-330 (2024)
   PUBMED   38478114
  REMARK    GeneRIF: Association of combined -344T/C and K173R polymorphisms in
            aldosterone synthase gene with type 2 diabetes mellitus in the
            Moroccan population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2936)
  AUTHORS   Garrelfs,M.R., Rinne,T., Hillebrand,J.J., Lauffer,P., Bijlsma,M.W.,
            Claahsen-van der Grinten,H.L., de Leeuw,N., Finken,M.J.J.,
            Rotteveel,J., Zwaveling-Soonawala,N., Nieuwdorp,M., van
            Trotsenburg,A.S.P. and Mooij,C.F.
  TITLE     Identification of a Novel CYP11B2 Variant in a Family with Varying
            Degrees of Aldosterone Synthase Deficiency
  JOURNAL   J Clin Res Pediatr Endocrinol 16 (1), 95-101 (2024)
   PUBMED   35848593
  REMARK    GeneRIF: Identification of a Novel CYP11B2 Variant in a Family with
            Varying Degrees of Aldosterone Synthase Deficiency.
REFERENCE   3  (bases 1 to 2936)
  AUTHORS   Shah,W.A., Jan,A., Khan,M.A., Saeed,M., Rahman,N., Zakiullah,
            Afridi,M.S., Khuda,F. and Akbar,R.
  TITLE     Association between Aldosterone Synthase (CYP11B2) Gene
            Polymorphism and Hypertension in Pashtun Ethnic Population of
            Khyber Pakhtunkwha, Pakistan
  JOURNAL   Genes (Basel) 14 (6), 1184 (2023)
   PUBMED   37372364
  REMARK    GeneRIF: Association between Aldosterone Synthase (CYP11B2) Gene
            Polymorphism and Hypertension in Pashtun Ethnic Population of
            Khyber Pakhtunkwha, Pakistan.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2936)
  AUTHORS   Gao,Y., Ding,J., Cui,Y., Li,T., Sun,H., Zhao,D., Zhang,Y., Huo,L.
            and Tong,A.
  TITLE     Functional nodules in primary aldosteronism: identification of
            CXCR4 expression with 68Ga-pentixafor PET/CT
  JOURNAL   Eur Radiol 33 (2), 996-1003 (2023)
   PUBMED   36070092
  REMARK    GeneRIF: Functional nodules in primary aldosteronism:
            identification of CXCR4 expression with [68]Ga-pentixafor PET/CT.
REFERENCE   5  (bases 1 to 2936)
  AUTHORS   van de Wiel,E., Chaman Baz,A.H., Kusters,B., Mukai,K., van
            Bonzel,L., van Erp,M., Deinum,J. and Langenhuijsen,J.
  TITLE     Changes of the CYP11B2 Expressing Zona Glomerulosa in Human
            Adrenals From Birth to 40 Years of Age
  JOURNAL   Hypertension 79 (11), 2565-2572 (2022)
   PUBMED   36036158
  REMARK    GeneRIF: Changes of the CYP11B2 Expressing Zona Glomerulosa in
            Human Adrenals From Birth to 40 Years of Age.
REFERENCE   6  (bases 1 to 2936)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2936)
  AUTHORS   Pascoe,L., Curnow,K.M., Slutsker,L., Connell,J.M., Speiser,P.W.,
            New,M.I. and White,P.C.
  TITLE     Glucocorticoid-suppressible hyperaldosteronism results from hybrid
            genes created by unequal crossovers between CYP11B1 and CYP11B2
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8327-8331 (1992)
   PUBMED   1518866
REFERENCE   8  (bases 1 to 2936)
  AUTHORS   Pascoe,L., Curnow,K.M., Slutsker,L., Rosler,A. and White,P.C.
  TITLE     Mutations in the human CYP11B2 (aldosterone synthase) gene causing
            corticosterone methyloxidase II deficiency
  JOURNAL   Proc Natl Acad Sci U S A 89 (11), 4996-5000 (1992)
   PUBMED   1594605
REFERENCE   9  (bases 1 to 2936)
  AUTHORS   Kawamoto,T., Mitsuuchi,Y., Toda,K., Yokoyama,Y., Miyahara,K.,
            Miura,S., Ohnishi,T., Ichikawa,Y., Nakao,K., Imura,H. et al.
  TITLE     Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in
            the biosynthesis of glucocorticoids and mineralocorticoids in
            humans
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1458-1462 (1992)
   PUBMED   1741400
REFERENCE   10 (bases 1 to 2936)
  AUTHORS   Mitsuuchi,Y., Kawamoto,T., Naiki,Y., Miyahara,K., Toda,K.,
            Kuribayashi,I., Orii,T., Yasuda,K., Miura,K., Nakao,K. et al.
  TITLE     Congenitally defective aldosterone biosynthesis in humans: the
            involvement of point mutations of the P-450C18 gene (CYP11B2) in
            CMO II deficient patients
  JOURNAL   Biochem Biophys Res Commun 182 (2), 974-979 (1992)
   PUBMED   1346492
  REMARK    Erratum:[Biochem Biophys Res Commun 1992 May 15;184(3):1529-30]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X54741.1 and AC073385.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 21, 2006 this sequence version replaced NM_000498.2.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the mitochondrial inner membrane. The
            enzyme has steroid 18-hydroxylase activity to synthesize
            aldosterone and 18-oxocortisol as well as steroid 11
            beta-hydroxylase activity. Mutations in this gene cause
            corticosterone methyl oxidase deficiency. [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 :: X54741.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000323110.2/
                                                  ENSP00000325822.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-749               X54741.1           1-749
            750-802             AC073385.14        112382-112434       c
            803-957             AC073385.14        111941-112095       c
            958-1595            X54741.1           958-1595
            1596-2936           AC073385.14        108236-109576       c
FEATURES             Location/Qualifiers
     source          1..2936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..2936
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /note="cytochrome P450 family 11 subfamily B member 2"
                     /db_xref="GeneID:1585"
                     /db_xref="HGNC:HGNC:2592"
                     /db_xref="MIM:124080"
     exon            1..242
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     CDS             4..1515
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /EC_number="1.14.15.4"
                     /EC_number="1.14.15.5"
                     /note="steroid 11-beta-monooxygenase; steroid
                     11-beta/18-hydroxylase; aldosterone synthase; cytochrome
                     P450, subfamily XIB (steroid 11-beta-hydroxylase),
                     polypeptide 2; cytochrome P450 11B2, mitochondrial;
                     mitochondrial cytochrome P450, family 11, subfamily B,
                     polypeptide 2; steroid 18-hydroxylase, aldosterone
                     synthase, P450C18, P450aldo; cytochrome P-450C18;
                     cytochrome P-450Aldo; aldosterone-synthesizing enzyme;
                     steroid 11-beta-hydroxylase, CYP11B2; corticosterone
                     18-monooxygenase, CYP11B2"
                     /codon_start=1
                     /product="cytochrome P450 11B2, mitochondrial precursor"
                     /protein_id="NP_000489.3"
                     /db_xref="CCDS:CCDS6393.1"
                     /db_xref="GeneID:1585"
                     /db_xref="HGNC:HGNC:2592"
                     /db_xref="MIM:124080"
                     /translation="MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQH
                     PGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQ
                     VDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPM
                     VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSS
                     ASLNFLHALEVMFKSTVQLMFMPRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQ
                     ELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTAFPLLMTLFELARNP
                     DVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVL
                     QNYHIPAGTLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQC
                     LGRRLAEAEMLLLLHHVLKHFLVETLTQEDIKMVYSFILRPGTSPLLTFRAIN"
     exon            243..398
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     exon            399..598
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     exon            599..802
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     exon            803..957
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1124
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1203
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1401
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..2936
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2919..2924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
     polyA_site      2936
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
ORIGIN      
        1 ggaatggcac tcagggcaaa ggcagaggtg tgcgtggcag cgccctggct gtccctgcaa
       61 agggcacggg cactgggcac tagagccgct cgggccccta ggacggtgct gccgtttgaa
      121 gccatgcccc agcatccagg caacaggtgg ctgaggctgc tgcagatctg gagggagcag
      181 ggttatgagc acctgcacct ggagatgcac cagaccttcc aggagctggg gcccattttc
      241 aggtacaact tgggaggacc acgcatggtg tgtgtgatgc tgccggagga tgtggagaag
      301 ctgcaacagg tggacagcct gcatccctgc aggatgatcc tggagccctg ggtggcctac
      361 agacaacatc gtgggcacaa atgtggcgtg ttcttgttga atgggcctga atggcgcttc
      421 aaccgattgc ggctgaaccc agatgtgctg tcgcccaagg ccgtgcagag gttcctcccg
      481 atggtggatg cagtggccag ggacttctcc caggccctga agaagaaggt gctgcagaac
      541 gcccggggga gcctgaccct ggacgtccag cccagcatct tccactacac catagaagcc
      601 agcaacttag ctctttttgg agagcggctg ggcctggttg gccacagccc cagttctgcc
      661 agcctgaact tcctccatgc cctggaggtc atgttcaaat ccaccgtcca gctcatgttc
      721 atgcccagga gcctgtctcg ctggatcagc cccaaggtgt ggaaggagca ctttgaggcc
      781 tgggactgca tcttccagta cggtgacaac tgtatccaga aaatctacca ggaactggcc
      841 ttcaaccgcc ctcaacacta cacaggcatc gtggcggagc tcctgttgaa ggcggaactg
      901 tcactagaag ccatcaaggc caactctatg gaactcactg cagggagcgt ggacacgaca
      961 gcgtttccct tgctgatgac gctctttgag ctggctcgga accccgacgt gcagcagatc
     1021 ctgcgccagg agagcctggc cgccgcagcc agcatcagtg aacatcccca gaaggcaacc
     1081 accgagctgc ccttgctgcg ggcggccctc aaggagacct tgcggctcta ccctgtgggt
     1141 ctgtttttgg agcgagtggt gagctcagac ttggtgcttc agaactacca catcccagct
     1201 gggacattgg tacaggtttt cctctactcg ctgggtcgca atgccgcctt gttcccgagg
     1261 cctgagcggt ataatcccca gcgctggcta gacatcaggg gctccggcag gaacttccac
     1321 cacgtgccct ttggctttgg catgcgccag tgcctcgggc ggcgcctggc agaggcagag
     1381 atgctgctgc tgctgcacca cgtgctgaag cacttcctgg tggagacact aactcaagag
     1441 gacataaaga tggtctacag cttcatattg aggcctggca cgtcccccct cctcactttc
     1501 agagcgatta actagtcttg catctgcacc cagggtccca gcctggccac cagcttccct
     1561 ctgcctgacc ccaggccacc tgtcttctct cccacgtgca cagcttcctg agtcacccct
     1621 ctgtccagcc agctcctgca caaatggaac tccccagggc ctccaggact ggggcttgcc
     1681 aggcttgtca aatagcaagg ccagggcaca gctggagacg atcttgctgg cagggcctgg
     1741 ccttgtcccc agctccacct ggccccttct ccagcaagca gtgccctctg gacagcttga
     1801 ctctactccc agcgctggct ccaggctcct catgaggcca tgcaagggtg ctgtgatttt
     1861 gtcccttgcc ttcctgccta gtctcacatg tccctgtccc tctcgccctg gccagggcct
     1921 ctgtgcagac agtgtcagag tcattaagcg ggatcccagc atctcagagt ccagtcaagt
     1981 tccctcctgc agcctgaccc caggcagctc gagcatgccc tgagctctct gaaagttgtc
     2041 accctggaat acgatcctgc agggtagact aaaaaggccc ctgtggtcac ttatcctgac
     2101 acattttcaa gtgatacaac tgagtctcga ggggcgtgtg ttccccagct gatcatgtca
     2161 gcctcatgcc ccaggcctcg tctttcatgg accaggtctt gttcaagcag cgagtgttgg
     2221 gtcctctgct tcctgagctg tcccctggag aaggtcccga ggatgctgtc aggagatgga
     2281 agagtcatgt ggggtgggaa cctggggtgt ggttccagaa atgtttttgg caacaggaga
     2341 gacaggattg ggccaacaag gactcagatg agttttattg actcattcct ctggttgata
     2401 cggagccatg tcatgtgcca cgacctgggg tgggcacagg gaggctgcag ttccctacgt
     2461 gaacctgcct tgggcctcat ctgctcctag cccagcagag agagttgacc cctcctgaac
     2521 tggccactcc ccagtgctcc tgtgcaggga taggaagtgc cccagggtga gaacgtgccc
     2581 agccacatca tctttatctc ctgggatttt cattagggca aagatctcag cagccagctc
     2641 ctggtagctg atgaggatca gagcgtttgt tcccccatga aaggggaaat acttaggtaa
     2701 tcattccagg tgtgttcagt agttccagga ctcagggact caggccagtc accctgtgac
     2761 cgcaggttgc tttcccaccc tgggcaatgc agtgcagcat gggaaaggaa taagggggca
     2821 acaaggtgca cagacctcag agatggcttc cttgtttatg gggctctcac agatacccat
     2881 ccaactcctc tagtcagcac tagatcatgg gatcctaaaa taaaccttgg aaaaat
//
