LOCUS       NM_000772               2310 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily C member 18
            (CYP2C18), transcript variant 1, mRNA.
ACCESSION   NM_000772
VERSION     NM_000772.3
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 2310)
  AUTHORS   Braten,L.S., Haslemo,T., Jukic,M.M., Ivanov,M.,
            Ingelman-Sundberg,M., Molden,E. and Kringen,M.K.
  TITLE     A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of
            Escitalopram
  JOURNAL   Clin Pharmacol Ther 110 (3), 786-793 (2021)
   PUBMED   33759177
  REMARK    GeneRIF: A Novel CYP2C-Haplotype Associated With Ultrarapid
            Metabolism of Escitalopram.
REFERENCE   2  (bases 1 to 2310)
  AUTHORS   Perera,M.A., Cavallari,L.H., Limdi,N.A., Gamazon,E.R.,
            Konkashbaev,A., Daneshjou,R., Pluzhnikov,A., Crawford,D.C.,
            Wang,J., Liu,N., Tatonetti,N., Bourgeois,S., Takahashi,H.,
            Bradford,Y., Burkley,B.M., Desnick,R.J., Halperin,J.L.,
            Khalifa,S.I., Langaee,T.Y., Lubitz,S.A., Nutescu,E.A., Oetjens,M.,
            Shahin,M.H., Patel,S.R., Sagreiya,H., Tector,M., Weck,K.E.,
            Rieder,M.J., Scott,S.A., Wu,A.H., Burmester,J.K., Wadelius,M.,
            Deloukas,P., Wagner,M.J., Mushiroda,T., Kubo,M., Roden,D.M.,
            Cox,N.J., Altman,R.B., Klein,T.E., Nakamura,Y. and Johnson,J.A.
  TITLE     Genetic variants associated with warfarin dose in African-American
            individuals: a genome-wide association study
  JOURNAL   Lancet 382 (9894), 790-796 (2013)
   PUBMED   23755828
REFERENCE   3  (bases 1 to 2310)
  AUTHORS   Flachsbart,F., Ufer,M., Kleindorp,R., Nikolaus,S., Schreiber,S. and
            Nebel,A.
  TITLE     Genetic variation in the CYP2C monooxygenase enzyme subfamily shows
            no association with longevity in a German population
  JOURNAL   J Gerontol A Biol Sci Med Sci 66 (11), 1186-1191 (2011)
   PUBMED   21798861
  REMARK    GeneRIF: These results suggest that there is no notable influence
            of sequence variation in the CYP2C genes on longevity in the
            examined German population
REFERENCE   4  (bases 1 to 2310)
  AUTHORS   Howard,T.D., Hsu,F.C., Grzywacz,J.G., Chen,H., Quandt,S.A.,
            Vallejos,Q.M., Whalley,L.E., Cui,W., Padilla,S. and Arcury,T.A.
  TITLE     Evaluation of candidate genes for cholinesterase activity in
            farmworkers exposed to organophosphorus pesticides: association of
            single nucleotide polymorphisms in BCHE
  JOURNAL   Environ Health Perspect 118 (10), 1395-1399 (2010)
   PUBMED   20529763
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2310)
  AUTHORS   Liu,C.Y., Wu,M.C., Chen,F., Ter-Minassian,M., Asomaning,K.,
            Zhai,R., Wang,Z., Su,L., Heist,R.S., Kulke,M.H., Lin,X., Liu,G. and
            Christiani,D.C.
  TITLE     A Large-scale genetic association study of esophageal
            adenocarcinoma risk
  JOURNAL   Carcinogenesis 31 (7), 1259-1263 (2010)
   PUBMED   20453000
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2310)
  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 2310)
  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   8  (bases 1 to 2310)
  AUTHORS   Ged,C. and Beaune,P.
  TITLE     Partial sequence and polymerase chain reaction-mediated analysis of
            expression of the human CYP2C18 gene
  JOURNAL   Pharmacogenetics 2 (3), 109-115 (1992)
   PUBMED   1306110
REFERENCE   9  (bases 1 to 2310)
  AUTHORS   Furuya,H., Meyer,U.A., Gelboin,H.V. and Gonzalez,F.J.
  TITLE     Polymerase chain reaction-directed identification, cloning, and
            quantification of human CYP2C18 mRNA
  JOURNAL   Mol Pharmacol 40 (3), 375-382 (1991)
   PUBMED   1896026
REFERENCE   10 (bases 1 to 2310)
  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]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M61856.1, BX538127.1 and
            M61853.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000772.2.
            
            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 endoplasmic reticulum but its
            specific substrate has not yet been determined. The gene is located
            within a cluster of cytochrome P450 genes on chromosome 10q24. An
            additional gene, CYP2C17, was once thought to exist; however,
            CYP2C17 is now considered an artefact based on a chimera of CYP2C18
            and CYP2C19. Alternatively spliced 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
            (1).
            
            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 :: M61853.1, M61856.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285979.11/ ENSP00000285979.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1628              M61856.1           109-1736
            1629-1887           BX538127.1         998-1256
            1888-2155           M61853.1           1839-2106
            2156-2310           BX538127.1         1525-1679
FEATURES             Location/Qualifiers
     source          1..2310
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..2310
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="cytochrome P450 family 2 subfamily C member 18"
                     /db_xref="GeneID:1562"
                     /db_xref="HGNC:HGNC:2620"
                     /db_xref="MIM:601131"
     exon            1..259
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..1564
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /EC_number="1.14.14.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     microsomal monooxygenase; flavoprotein-linked
                     monooxygenase; cytochrome P450, subfamily IIC (mephenytoin
                     4-hydroxylase), polypeptide 18; cytochrome P450, subfamily
                     IIC (mephenytoin 4-hydroxylase), polypeptide 17;
                     cytochrome P450 2C18; (S)-mephenytoin hydroxylase
                     associated cytochrome P450; unspecific monooxygenase;
                     CYPIIC18; cytochrome P450-6B/29C; cytochrome P450, family
                     2, subfamily C, polypeptide 18"
                     /codon_start=1
                     /product="cytochrome P450 2C18 isoform 1"
                     /protein_id="NP_000763.1"
                     /db_xref="CCDS:CCDS7435.1"
                     /db_xref="GeneID:1562"
                     /db_xref="HGNC:HGNC:2620"
                     /db_xref="MIM:601131"
                     /translation="MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQ
                     LDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGYEAVKEALIDHGEEFSGRGSFPV
                     AEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTN
                     ASPCDPTFILGCAPCNVICSVIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQVCNN
                     FPALIDYLPGSHNKIAENFAYIKSYVLERIKEHQESLDMNSARDFIDCFLIKMEQEKH
                     NQQSEFTVESLIATVTDMFGAGTETTSTTLRYGLLLLLKYPEVTAKVQEEIECVVGRN
                     RSPCMQDRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNYLIPKGTTIITSLT
                     SVLHNDKEFPNPEMFDPGHFLDKSGNFKKSDYFMPFSAGKRMCMGEGLARMELFLFLT
                     TILQNFNLKSQVDPKDIDITPIANAFGRVPPLYQLCFIPV"
     exon            260..422
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     exon            423..572
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     exon            573..733
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     exon            734..910
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1052
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1240
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1382
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..2310
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1867..1872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="hexamer: AATAAA"
     polyA_site      1888
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="major polyA site"
     regulatory      2288..2293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="hexamer: AATATA"
     polyA_site      2310
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="major polyA site"
ORIGIN      
        1 agagtcagaa tcacaggtgg attagtaggg agtgttataa aagccttgaa gtgaaagccc
       61 gcagttgtct tactaagaag agaagccttc aatggatcca gctgtggctc tggtgctctg
      121 tctctcctgt ttgtttctcc tttcactctg gaggcagagc tctggaagag ggaggctccc
      181 gtctggcccc actcctctcc cgattattgg aaatatcctg cagttagatg ttaaggacat
      241 gagcaaatcc ttaaccaatt tctcaaaagt ctatggccct gtgttcactg tgtattttgg
      301 cctgaagccc attgtggtgt tgcatggata tgaagcagtg aaggaggccc tgattgatca
      361 tggagaggag ttttctggaa gaggaagttt tccagtggct gaaaaagtta acaaaggact
      421 tggaatcctt ttcagcaatg gaaagagatg gaaggagatc cggcgtttct gcctcatgac
      481 tctgcggaat tttgggatgg ggaagaggag catcgaggac cgtgttcaag aggaagcccg
      541 ctgccttgtg gaggagttga gaaaaaccaa tgcctcaccc tgtgatccca ctttcatcct
      601 gggctgtgct ccctgcaatg tgatctgctc tgttattttc catgatcgat ttgattataa
      661 agatcagagg tttcttaact tgatggaaaa attcaatgaa aacctcagga ttctgagctc
      721 tccatggatc caggtctgca ataatttccc tgctctcatc gattatctcc caggaagtca
      781 taataaaata gctgaaaatt ttgcttacat taaaagttat gtattggaga gaataaaaga
      841 acatcaagaa tccctggaca tgaacagtgc tcgggacttt attgattgtt tcctgatcaa
      901 aatggaacag gaaaagcaca atcaacagtc tgaatttact gttgaaagct tgatagccac
      961 tgtaactgat atgtttgggg ctggaacaga gacaacgagc accactctga gatatggact
     1021 cctgctcctg ctgaagtacc cagaggtcac agctaaagtc caggaagaga ttgaatgtgt
     1081 agttggcaga aaccggagcc cctgtatgca ggacaggagt cacatgccct acacagatgc
     1141 tgtggtgcac gagatccaga gatacattga cctcctcccc accaacctgc cccatgcagt
     1201 gacctgtgat gttaaattca aaaactacct catccccaag ggcacgacca taataacatc
     1261 cctgacttct gtgctgcaca atgacaaaga attccccaac ccagagatgt ttgaccctgg
     1321 ccactttctg gataagagtg gcaactttaa gaaaagtgac tacttcatgc ctttctcagc
     1381 aggaaaacgg atgtgtatgg gagagggcct ggcccgcatg gagctgtttt tattcctgac
     1441 caccattttg cagaacttta acctgaaatc tcaggttgac ccaaaggata ttgacatcac
     1501 ccccattgcc aatgcatttg gtcgtgtgcc acccttgtac cagctctgct tcattcctgt
     1561 ctgaagaagg gcagatagtt tggctgctcc tgtgctgtca cctgcaattc tcccttatca
     1621 gggccattgg cctctccctt ctctctgtga gggatatttt ctctgacttg tcaatccaca
     1681 tcttcccatt ccctcaagat ccaatgaaca tccaacctcc attaaagaga gtttcttggg
     1741 tcacttccta aatatatctg ctattctcca tactctgtat cacttgtatt gaccaccaca
     1801 tatgctaata cctatctact gctgagttgt cagtatgtta tcactagaaa acaaagaaaa
     1861 atgattaata aatgacaatt cagagccatt tattctctgc atgctctaga taaaaatgat
     1921 tattatttac tgggtcagtt cttagatttc tttcttttga gtaaaatgaa agtaagaaat
     1981 gaaagaaaat agaatgtgaa gaggctgtgc tggccctcat agtgttaagc acaaaaaggg
     2041 agaaaggtaa gagggtagga aagctgtttt agctaaatgc cacctagagt tattggaggt
     2101 ctgaatttgg aaaaaaaaac tatgtccagg agcagctgta acctgtaggg aaatactgga
     2161 acaatcatcc ataagaggga tgaacattaa gtgtttgaat tcatgctctg cttttgtgtt
     2221 actgtaaaca caagatcaag atttggataa tctttttcct ttgtgtttcc aacttagatc
     2281 atgtctaaat atatgctttc atatggctaa
//
