LOCUS       NM_000769               4131 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily C member 19
            (CYP2C19), mRNA.
ACCESSION   NM_000769
VERSION     NM_000769.4
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 4131)
  AUTHORS   Du,Y.X., Zhu,Y.X., Li,L., Yang,J. and Chen,X.P.
  TITLE     Interaction of age and CYP2C19 genotypes on voriconazole
            steady-state trough concentration in Chinese patients
  JOURNAL   Pharmacogenet Genomics 34 (6), 191-198 (2024)
   PUBMED   38747453
  REMARK    GeneRIF: Interaction of age and CYP2C19 genotypes on voriconazole
            steady-state trough concentration in Chinese patients.
REFERENCE   2  (bases 1 to 4131)
  AUTHORS   Li,D., Pain,O., Fabbri,C., Wong,W.L.E., Lo,C.W.H., Ripke,S.,
            Cattaneo,A., Souery,D., Dernovsek,M.Z., Henigsberg,N., Hauser,J.,
            Lewis,G., Mors,O., Perroud,N., Rietschel,M., Uher,R., Maier,W.,
            Baune,B.T., Biernacka,J.M., Bondolfi,G., Domschke,K., Kato,M.,
            Liu,Y.L., Serretti,A., Tsai,S.J., Weinshilboum,R., McIntosh,A.M.
            and Lewis,C.M.
  CONSRTM   GSRD Consortium, the Major Depressive Disorder Working Group of the
            Psychiatric Genomics Consortium
  TITLE     Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response
            from 13 clinical studies using genotype imputation: a meta-analysis
  JOURNAL   Transl Psychiatry 14 (1), 296 (2024)
   PUBMED   39025838
  REMARK    GeneRIF: Metabolic activity of CYP2C19 and CYP2D6 on antidepressant
            response from 13 clinical studies using genotype imputation: a
            meta-analysis.
            Erratum:[Transl Psychiatry. 2024 Aug 31;14(1):350. doi:
            10.1038/s41398-024-03064-x.. PMID: 39217139]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4131)
  AUTHORS   Ouattara,A.K., Kagambega,Y.D., Ouedraogo,T.C., Traore,L.,
            Ouedraogo,M., Yameogo,N.V. and Simpore,J.
  TITLE     High Frequency of CYP2C19*3 Heterozygotes Among Patients Under
            Clopidogrel Treatment in Ouagadougou, Burkina Faso
  JOURNAL   Pak J Biol Sci 27 (8), 398-403 (2024)
   PUBMED   39300676
  REMARK    GeneRIF: High Frequency of CYP2C19*3 Heterozygotes Among Patients
            Under Clopidogrel Treatment in Ouagadougou, Burkina Faso.
REFERENCE   4  (bases 1 to 4131)
  AUTHORS   Tunehag,K.R., Thomas,C.D., Franchi,F., Rossi,J.S., Keeley,E.C.,
            Anderson,R.D., Beitelshees,A.L., Duarte,J.D., Gong,Y.,
            Kerensky,R.A., McDonough,C.W., Nguyen,A.B., Ortega-Paz,L.,
            Venkatesh,S., Wang,Y., Johnson,J.A., Winterstein,A.G.,
            Stouffer,G.A., Angiolillo,D.J., Cavallari,L.H. and Lee,C.R.
  TITLE     CYP2C19 Genotype Is Associated With Adverse Cardiovascular Outcomes
            in Black Patients Treated With Clopidogrel Undergoing Percutaneous
            Coronary Intervention
  JOURNAL   J Am Heart Assoc 13 (12), e033791 (2024)
   PUBMED   38874073
  REMARK    GeneRIF: CYP2C19 Genotype Is Associated With Adverse Cardiovascular
            Outcomes in Black Patients Treated With Clopidogrel Undergoing
            Percutaneous Coronary Intervention.
REFERENCE   5  (bases 1 to 4131)
  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   6  (bases 1 to 4131)
  AUTHORS   Goldstein,J.A. and de Morais,S.M.
  TITLE     Biochemistry and molecular biology of the human CYP2C subfamily
  JOURNAL   Pharmacogenetics 4 (6), 285-299 (1994)
   PUBMED   7704034
  REMARK    Review article
REFERENCE   7  (bases 1 to 4131)
  AUTHORS   De Morais,S.M., Wilkinson,G.R., Blaisdell,J., Meyer,U.A.,
            Nakamura,K. and Goldstein,J.A.
  TITLE     Identification of a new genetic defect responsible for the
            polymorphism of (S)-mephenytoin metabolism in Japanese
  JOURNAL   Mol Pharmacol 46 (4), 594-598 (1994)
   PUBMED   7969038
REFERENCE   8  (bases 1 to 4131)
  AUTHORS   de Morais,S.M., Wilkinson,G.R., Blaisdell,J., Nakamura,K.,
            Meyer,U.A. and Goldstein,J.A.
  TITLE     The major genetic defect responsible for the polymorphism of
            S-mephenytoin metabolism in humans
  JOURNAL   J Biol Chem 269 (22), 15419-15422 (1994)
   PUBMED   8195181
REFERENCE   9  (bases 1 to 4131)
  AUTHORS   Romkes,M., Faletto,M.B., Blaisdell,J.A., Raucy,J.L. and
            Goldstein,J.A.
  TITLE     Cloning and expression of complementary DNAs for multiple members
            of the human cytochrome P450IIC subfamily
  JOURNAL   Biochemistry 30 (13), 3247-3255 (1991)
   PUBMED   2009263
  REMARK    Erratum:[Biochemistry. 1993 Feb 9;32(5):1390. doi:
            10.1021/bi00056a025.. PMID: 8095407]
REFERENCE   10 (bases 1 to 4131)
  AUTHORS   Meier,U.T. and Meyer,U.A.
  TITLE     Genetic polymorphism of human cytochrome P-450 (S)-mephenytoin
            4-hydroxylase. Studies with human autoantibodies suggest a
            functionally altered cytochrome P-450 isozyme as cause of the
            genetic deficiency
  JOURNAL   Biochemistry 26 (25), 8466-8474 (1987)
   PUBMED   3442670
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB158473.1, M61854.1,
            CB161988.1 and AL133513.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 28, 2018 this sequence version replaced NM_000769.3.
            
            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 is known to
            metabolize many xenobiotics, including the anticonvulsive drug
            mephenytoin, omeprazole, diazepam and some barbiturates.
            Polymorphism within this gene is associated with variable ability
            to metabolize mephenytoin, known as the poor metabolizer and
            extensive metabolizer phenotypes. The gene is located within a
            cluster of cytochrome P450 genes on chromosome 10q24. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR5189664.127101.1, M61854.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371321.9/ ENSP00000360372.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                CB158473.1         2-21
            21-1766             M61854.1           1-1746
            1767-1789           CB161988.1         530-552
            1790-4131           AL133513.12        62237-64578
FEATURES             Location/Qualifiers
     source          1..4131
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..4131
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /note="cytochrome P450 family 2 subfamily C member 19"
                     /db_xref="GeneID:1557"
                     /db_xref="HGNC:HGNC:2621"
                     /db_xref="MIM:124020"
     exon            1..193
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1498
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.14.51"
                     /EC_number="1.14.14.52"
                     /EC_number="1.14.14.53"
                     /EC_number="1.14.14.75"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19;
                     mephenytoin 4'-hydroxylase; S-mephenytoin 4-hydroxylase;
                     cytochrome P-450 II C; cytochrome P450-11A; cytochrome
                     P450-254C; (R)-limonene 6-monooxygenase; (S)-limonene
                     6-monooxygenase; (S)-limonene 7-monooxygenase; cytochrome
                     P450, family 2, subfamily C, polypeptide 19; fenbendazole
                     monooxygenase (4'-hydroxylating)"
                     /codon_start=1
                     /product="cytochrome P450 2C19"
                     /protein_id="NP_000760.1"
                     /db_xref="CCDS:CCDS7436.1"
                     /db_xref="GeneID:1557"
                     /db_xref="HGNC:HGNC:2621"
                     /db_xref="MIM:124020"
                     /translation="MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQ
                     IDIKDVSKSLTNLSKIYGPVFTLYFGLERMVVLHGYEVVKEALIDLGEEFSGRGHFPL
                     AERANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTK
                     ASPCDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNN
                     FPTIIDYFPGTHNKLLKNLAFMESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQ
                     NQQSEFTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVTAKVQEEIERVIGRN
                     RSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRNYLIPKGTTILTSLT
                     SVLHDNKEFPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLT
                     FILQNFNLKSLIDPKDLDTTPVVNGFASVPPFYQLCFIPV"
     exon            194..356
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     exon            357..506
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     exon            507..667
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     exon            668..844
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     exon            845..986
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1174
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1316
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..4131
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1642..1647
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /note="hexamer: ATTAAA"
     polyA_site      1665
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /note="major polyA site"
ORIGIN      
        1 gtcttaacaa gaggagaagg cttcaatgga tccttttgtg gtccttgtgc tctgtctctc
       61 atgtttgctt ctcctttcaa tctggagaca gagctctggg agaggaaaac tccctcctgg
      121 ccccactcct ctcccagtga ttggaaatat cctacagata gatattaagg atgtcagcaa
      181 atccttaacc aatctctcaa aaatctatgg ccctgtgttc actctgtatt ttggcctgga
      241 acgcatggtg gtgctgcatg gatatgaagt ggtgaaggaa gccctgattg atcttggaga
      301 ggagttttct ggaagaggcc atttcccact ggctgaaaga gctaacagag gatttggaat
      361 cgttttcagc aatggaaaga gatggaagga gatccggcgt ttctccctca tgacgctgcg
      421 gaattttggg atggggaaga ggagcattga ggaccgtgtt caagaggaag cccgctgcct
      481 tgtggaggag ttgagaaaaa ccaaggcttc accctgtgat cccactttca tcctgggctg
      541 tgctccctgc aatgtgatct gctccattat tttccagaaa cgtttcgatt ataaagatca
      601 gcaatttctt aacttgatgg aaaaattgaa tgaaaacatc aggattgtaa gcaccccctg
      661 gatccagata tgcaataatt ttcccactat cattgattat ttcccgggaa cccataacaa
      721 attacttaaa aaccttgctt ttatggaaag tgatattttg gagaaagtaa aagaacacca
      781 agaatcgatg gacatcaaca accctcggga ctttattgat tgcttcctga tcaaaatgga
      841 gaaggaaaag caaaaccaac agtctgaatt cactattgaa aacttggtaa tcactgcagc
      901 tgacttactt ggagctggga cagagacaac aagcacaacc ctgagatatg ctctccttct
      961 cctgctgaag cacccagagg tcacagctaa agtccaggaa gagattgaac gtgtcattgg
     1021 cagaaaccgg agcccctgca tgcaggacag gggccacatg ccctacacag atgctgtggt
     1081 gcacgaggtc cagagataca tcgacctcat ccccaccagc ctgccccatg cagtgacctg
     1141 tgacgttaaa ttcagaaact acctcattcc caagggcaca accatattaa cttccctcac
     1201 ttctgtgcta catgacaaca aagaatttcc caacccagag atgtttgacc ctcgtcactt
     1261 tctggatgaa ggtggaaatt ttaagaaaag taactacttc atgcctttct cagcaggaaa
     1321 acggatttgt gtgggagagg gcctggcccg catggagctg tttttattcc tgaccttcat
     1381 tttacagaac tttaacctga aatctctgat tgacccaaag gaccttgaca caactcctgt
     1441 tgtcaatgga tttgcttctg tcccgccctt ctatcagctg tgcttcattc ctgtctgaag
     1501 aagcacagat ggtctggctg ctcctgtgct gtccctgcag ctctctttcc tctggtccaa
     1561 atttcactat ctgtgatgct tcttctgacc cgtcatctca cattttccct tcccccaaga
     1621 tctagtgaac attcagcctc cattaaaaaa gtttcactgt gcaaatatat ctgctattcc
     1681 ccatactcta taatagttac attgagtgcc acataatgct gatacttgtc taatgttgag
     1741 ttattaacat attattatta aatagagaaa gatgatttgt gtattataat tcaaaggcat
     1801 ttcttctctg catgttctaa acaaaaagca ttattatttg ctgagtcagg ttattagacc
     1861 ttccttcctt tgtgcataat gcaggtgaca aattaaagaa aatagagttc caggaggcca
     1921 tgctggttct caaaacgata aggacagaaa ggacaaaggt gaagatggta gggaagctat
     1981 tttggctgag cattaccaaa atttagagtt acatgaggat tggatttgaa agtgagaaac
     2041 tgtgtccagg agcagctcca acctctaggg aaatattcag aggatcaggt attgggagga
     2101 atggatatta aatgttccac attggtgttc cttttttttt tttttttgag acaatgtctc
     2161 actctgtctc ccaggctgga gtgcagtggt gcaatctcgg ctcactgtaa ccttcgcctc
     2221 ccaggctcaa gagattctcc tgcctcagcc tcctgagtag ctgggattac agacacgtgc
     2281 caccatgcct ggctaatttt tttgtatttt tagtacagac agggtttcac catgttagcc
     2341 aggatgatct caatctgctg acctcctgat ctgcctgcct cagcctccca aagtgctggg
     2401 attacaggag tgagacactg tgcctggtct aatgttactt taaagtgtca ttactttatc
     2461 tctaaataaa gaatcaggtt acttttatta cttcatgttt ccaacttaga atgaagtaat
     2521 gaagtataaa tatatgcttt catattgctg ctcatgtgtt ttgtcatgct tctctcttca
     2581 aacatgaaca aaatttcttt tcttttttct tttttttttg aaatggagtc ccacttttgt
     2641 tccccaggct ggagtgcaat ggtgcgatct cggctcactg caatctccac ctcctggatt
     2701 caagtggttc tcctgcctca gccccccaag tagctgggat tacaggtgcc taccaccaca
     2761 ccaggctaat ttttgtattt ttagtagaga cagggtttca ctatgtgggc caggctagtc
     2821 ttgaactcct gacctcaagt gatccaccca cctcagcctc ccaaactgct gggcttacag
     2881 gcgtgagcca ctgcacctgg ctgaacaaaa tttctaagaa gaattaccag ggtttaatct
     2941 ttttcagctt ctcctatatt gttttagttt taacattagt gggatgataa ttttatgcta
     3001 ttgtcctaat ataattagcc tcatgtcatc tccaaagcat agacaactaa gtatcttatg
     3061 ttaaattatg ttcaccactc ttcctgtctt ctacttgaaa tgtaagaaat aagaagtaac
     3121 ataattgatt atgcttttca cagctcatct cctagaacaa gctacttaca atttggaata
     3181 catttaaaga taatatatgg gtacagatgt acatgtacat ctatgcatgt gtgtgtacat
     3241 tatgtgcatt cacacataat atatatatgt ataacttatg cacacataca tatagggtta
     3301 aatgtttatt tacaatattg ggctcatatc acacatcttg tattaaaact tgctattttc
     3361 ctaccaagta atatgccagc aaaacctcta aggtgataga aacataggca aataattcag
     3421 agagttaata gaagagaaag tggaaatggg tattacatta atggaaagat acagatggaa
     3481 attacacatt atacatttta aacattcttc attgggaaat gaaaatgtat taatgtagtg
     3541 ttagtagagg tgttgacaaa cacccatggg tgagataaat aaaaaagttg tctagtctgt
     3601 ttcctcctgg agactgtagt ggataatctg ttttcctgcc tatttcagct cctaaaggct
     3661 gcctgcattc cttggctcat gaactccttt ttctttcact ccaaacactt gcttcttttg
     3721 ttacatctcc tactcctact actcttattc tctctccctt atgtaaagac ccttgtgatt
     3781 acatgaaacc caccagtgta atctcttcat gtccagacat tatttagcct accatactat
     3841 tattataccc atttgaacaa ccaaacaatt gcactgatga tctgttaagc atcttgttca
     3901 aggtcacaca gctttttaag tgtcagagcc aacaattgga caagggcaat ctgactggaa
     3961 agtagaagtt gctaacaact ttgctaattc tctgcattta tttttattgt ttgtatttct
     4021 tccctaaaat acatatttca tatgagaaga gaactttatt tggctcacta atgaatacca
     4081 gccacctgaa acactgttta gaagatactg gctcaataaa tatttaatga a
//
