LOCUS       NM_000500               2006 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cytochrome P450 family 21 subfamily A member 2
            (CYP21A2), transcript variant 1, mRNA.
ACCESSION   NM_000500 XM_002344007 XM_002344008
VERSION     NM_000500.9
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 2006)
  AUTHORS   Zhang,X., Gao,Y., Lu,L., Cao,Y., Zhang,W., Sun,B., Wu,X., Tong,A.,
            Chen,S., Wang,X., Mao,J. and Nie,M.
  TITLE     Targeted long-read sequencing for comprehensive detection of
            CYP21A2 mutations in patients with 21-hydroxylase deficiency
  JOURNAL   J Endocrinol Invest 47 (4), 833-841 (2024)
   PUBMED   37815751
  REMARK    GeneRIF: Targeted long-read sequencing for comprehensive detection
            of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
REFERENCE   2  (bases 1 to 2006)
  AUTHORS   Lundtoft,C., Eriksson,D., Bianchi,M., Aranda-Guillen,M.,
            Landegren,N., Rantapaa-Dahlqvist,S., Soderkvist,P., Meadows,J.R.S.,
            Bensing,S., Pielberg,G.R., Lindblad-Toh,K., Ronnblom,L. and
            Kampe,O.
  CONSRTM   DISSECT Consortium; ImmunoArray Consortium; Swedish Addison
            Registry Study Group
  TITLE     Relation between HLA and copy number variation of steroid
            21-hydroxylase in a Swedish cohort of patients with autoimmune
            Addison's disease
  JOURNAL   Eur J Endocrinol 189 (2), 235-241 (2023)
   PUBMED   37553728
  REMARK    GeneRIF: Relation between HLA and copy number variation of steroid
            21-hydroxylase in a Swedish cohort of patients with autoimmune
            Addison's disease.
REFERENCE   3  (bases 1 to 2006)
  AUTHORS   Fanis,P., Skordis,N., Toumba,M., Picolos,M., Tanteles,G.A.,
            Neocleous,V. and Phylactou,L.A.
  TITLE     The pathogenic p.Gln319Ter variant is not causing congenital
            adrenal hyperplasia when inherited in one of the duplicated CYP21A2
            genes
  JOURNAL   Front Endocrinol (Lausanne) 14, 1156616 (2023)
   PUBMED   37324257
  REMARK    GeneRIF: The pathogenic p.Gln319Ter variant is not causing
            congenital adrenal hyperplasia when inherited in one of the
            duplicated CYP21A2 genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2006)
  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   5  (bases 1 to 2006)
  AUTHORS   Nimkarn,S., Gangishetti,P.K., Yau,M. and New,M.I.
  TITLE     21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301350
REFERENCE   6  (bases 1 to 2006)
  AUTHORS   Owerbach,D., Sherman,L., Ballard,A.L. and Azziz,R.
  TITLE     Pro-453 to Ser mutation in CYP21 is associated with nonclassic
            steroid 21-hydroxylase deficiency
  JOURNAL   Mol Endocrinol 6 (8), 1211-1215 (1992)
   PUBMED   1406699
REFERENCE   7  (bases 1 to 2006)
  AUTHORS   Winqvist,O., Karlsson,F.A. and Kampe,O.
  TITLE     21-Hydroxylase, a major autoantigen in idiopathic Addison's disease
  JOURNAL   Lancet 339 (8809), 1559-1562 (1992)
   PUBMED   1351548
REFERENCE   8  (bases 1 to 2006)
  AUTHORS   Aston,C.E., Sherman,S.L., Morton,N.E., Speiser,P.W. and New,M.I.
  TITLE     Genetic mapping of the 21-hydroxylase locus: estimation of small
            recombination frequencies
  JOURNAL   Am J Hum Genet 43 (3), 304-310 (1988)
   PUBMED   3137812
REFERENCE   9  (bases 1 to 2006)
  AUTHORS   Harada,F., Kimura,A., Iwanaga,T., Shimozawa,K., Yata,J. and
            Sasazuki,T.
  TITLE     Gene conversion-like events cause steroid 21-hydroxylase deficiency
            in congenital adrenal hyperplasia
  JOURNAL   Proc Natl Acad Sci U S A 84 (22), 8091-8094 (1987)
   PUBMED   3500473
REFERENCE   10 (bases 1 to 2006)
  AUTHORS   Higashi,Y., Yoshioka,H., Yamane,M., Gotoh,O. and Fujii-Kuriyama,Y.
  TITLE     Complete nucleotide sequence of two steroid 21-hydroxylase genes
            tandemly arranged in human chromosome: a pseudogene and a genuine
            gene
  JOURNAL   Proc Natl Acad Sci U S A 83 (9), 2841-2845 (1986)
   PUBMED   3486422
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV708092.1, DA008890.1,
            BC125181.1, AL645922.12, M17252.1 and AI479704.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 24, 2018 this sequence version replaced NM_000500.8.
            
            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 endoplasmic reticulum and
            hydroxylates steroids at the 21 position. Its activity is required
            for the synthesis of steroid hormones including cortisol and
            aldosterone. Mutations in this gene cause congenital adrenal
            hyperplasia. A related pseudogene is located near this gene; gene
            conversion events involving the functional gene and the pseudogene
            are thought to account for many cases of steroid 21-hydroxylase
            deficiency. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: BC125182.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644719.2/ ENSP00000496625.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AV708092.1         100-224
            126-146             DA008890.1         124-144
            147-1547            BC125181.1         235-1635
            1548-1548           AL645922.12        137452-137452
            1549-1961           M17252.1           746-1158
            1962-2004           AI479704.1         29-71               c
            2005-2006           AL645922.12        137909-137910
FEATURES             Location/Qualifiers
     source          1..2006
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2006
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /note="cytochrome P450 family 21 subfamily A member 2"
                     /db_xref="GeneID:1589"
                     /db_xref="HGNC:HGNC:2600"
                     /db_xref="MIM:613815"
     exon            1..210
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     CDS             9..1496
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /EC_number="1.14.14.16"
                     /note="isoform a is encoded by transcript variant 1;
                     steroid 21-monooxygenase; cytochrome P450, subfamily XXIA
                     (steroid 21-hydroxylase, congenital adrenal hyperplasia),
                     polypeptide 2; cytochrome P450, family 21, subfamily A,
                     polypeptide 2; 21-OHase; cytochrome P450 XXI; cytochrome
                     P450-C21B; steroid 21 hydroxylase"
                     /codon_start=1
                     /product="steroid 21-hydroxylase isoform a"
                     /protein_id="NP_000491.4"
                     /db_xref="CCDS:CCDS4735.1"
                     /db_xref="GeneID:1589"
                     /db_xref="HGNC:HGNC:2600"
                     /db_xref="MIM:613815"
                     /translation="MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPD
                     LPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVS
                     RNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVA
                     IEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRF
                     FPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQ
                     LLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSR
                     VPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGA
                     HLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAF
                     TLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ"
     exon            211..300
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            301..455
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            456..557
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            558..659
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            660..746
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            747..947
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1126
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1230
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..2006
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1982..1987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /note="hexamer: AATAAA"
     polyA_site      2004
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /note="major polyA site"
ORIGIN      
        1 gtctcgccat gctgctcctg ggcctgctgc tgctgctgcc cctgctggct ggcgcccgcc
       61 tgctgtggaa ctggtggaag ctccggagcc tccacctccc gcctcttgcc ccgggcttct
      121 tgcacctgct gcagcccgac ctccccatct atctgcttgg cctgactcag aaattcgggc
      181 ccatctacag gctccacctt gggctgcaag atgtggtggt gctgaactcc aagaggacca
      241 ttgaggaagc catggtcaaa aagtgggcag actttgctgg cagacctgag ccacttacct
      301 acaagctggt gtctaggaac tacccggacc tgtccttggg agactactcc ctgctctgga
      361 aagcccacaa gaagctcacc cgctcagccc tgctgctggg catccgtgac tccatggagc
      421 cagtggtgga gcagctgacc caggagttct gtgagcgcat gagagcccag cccggcaccc
      481 ctgtggccat tgaggaggaa ttctctctcc tcacctgcag catcatctgt tacctcacct
      541 tcggagacaa gatcaaggac gacaacttaa tgcctgccta ttacaaatgt atccaggagg
      601 tgttaaaaac ctggagccac tggtccatcc aaattgtgga cgtgattccc tttctcaggt
      661 tcttccccaa tccaggtctc cggaggctga agcaggccat agagaagagg gatcacatcg
      721 tggagatgca gctgaggcag cacaaggaga gcctcgtggc aggccagtgg agggacatga
      781 tggactacat gctccaaggg gtggcgcagc cgagcatgga agagggctct ggacagctcc
      841 tggaagggca cgtgcacatg gctgcagtgg acctcctgat cggtggcact gagaccacag
      901 caaacaccct ctcctgggcc gtggtttttt tgcttcacca ccctgagatt cagcagcgac
      961 tgcaggagga gctagaccac gaactgggcc ctggtgcctc cagctcccgg gtcccctaca
     1021 aggaccgtgc acggctgccc ttgctcaatg ccaccatcgc cgaggtgctg cgcctgcggc
     1081 ccgttgtgcc cttagccttg ccccaccgca ccacacggcc cagcagcatc tccggctacg
     1141 acatccctga gggcacagtc atcattccga acctccaagg cgcccacctg gatgagacgg
     1201 tctgggagag gccacatgag ttctggcctg atcgcttcct ggagccaggc aagaactcca
     1261 gagctctggc cttcggctgc ggtgcccgcg tgtgcctggg cgagccgctg gcgcgcctgg
     1321 agctcttcgt ggtgctgacc cgactgctgc aggccttcac gctgctgccc tccggggacg
     1381 ccctgccctc cctgcagccc ctgccccact gcagtgtcat cctcaagatg cagcctttcc
     1441 aagtgcggct gcagccccgg gggatggggg cccacagccc gggccagagc cagtgatggg
     1501 gcaggaccga tgccagccgg gtacctcagt ttctccttta ttgctcccgt acgaacccct
     1561 cccctccccc ctgtaaacac agtgctgcga gatcgctggc agagaaggct tcctccagcg
     1621 gctgggtggt gaaggaccct ggctcttctc tcggggcgac ccctcagtgc tcggcagtca
     1681 tactggggtg cgagagaggt gggcagcagc tcagcctccc cccgctgggg agcgaaagtt
     1741 tcttggtctc agcttcattt ccgtgaaggg caccgagaac tcgaagccct tccagtggta
     1801 ccagctcact ccctgggaaa ggggttgtca agagagagtc aaagccggat gtcccatctg
     1861 ctcttcccgt tccccttaag gaggtagctc ccagcactca accaacctcc ccgcagagct
     1921 cccttcctga ccctccgctg cagaggattg aggcttaatt ctgagctggc cctttccagc
     1981 caataaatca actccagctc cctctg
//
