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2024-03-29 19:08:47, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001198854            1799 bp    mRNA    linear   PRI 01-JUL-2013
DEFINITION  Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8
            (CYP2C8), transcript variant 3, mRNA.
ACCESSION   NM_001198854
VERSION     NM_001198854.1  GI:311893310
KEYWORDS    RefSeq.
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 1799)
  AUTHORS   Wu,X., Zuo,J., Guo,T. and Yuan,L.
  TITLE     CYP2C8 polymorphism frequencies among Han, Uighur, Hui, and
            Mongolian Chinese populations
  JOURNAL   Genet Test Mol Biomarkers 17 (2), 104-108 (2013)
   PUBMED   23336573
  REMARK    GeneRIF: The study described polymorphisms of CYP2C8 in Chinese
            minorities for the first time, showing significant ethnic
            differences in the distribution of CYP2C8 among the Han, the
            Uighur, Hui, and Mongolian Chinese populations.
REFERENCE   2  (bases 1 to 1799)
  AUTHORS   Zhong,D.N., Wu,J.Z. and Li,G.J.
  TITLE     Association between CYP2C8 (rs1934951) polymorphism and
            bisphosphonate-related osteonecrosis of the jaws in patients on
            bisphosphonate therapy: a meta-analysis
  JOURNAL   Acta Haematol. 129 (2), 90-95 (2013)
   PUBMED   23171856
  REMARK    GeneRIF: The results indicated that AA and AG genotypes of CYP2C8
            (rs1934951) might be predictors for multiple myeloma patients at
            high risk to develop bisphosphonate-related oxteonecrosis of the
            jaw.
REFERENCE   3  (bases 1 to 1799)
  AUTHORS   Reynald,R.L., Sansen,S., Stout,C.D. and Johnson,E.F.
  TITLE     Structural characterization of human cytochrome P450 2C19: active
            site differences between P450s 2C8, 2C9, and 2C19
  JOURNAL   J. Biol. Chem. 287 (53), 44581-44591 (2012)
   PUBMED   23118231
  REMARK    GeneRIF: The substrate-binding cavity of P450 2C8 is much larger
            than that of P450 2C19 and P450 2C9.
REFERENCE   4  (bases 1 to 1799)
  AUTHORS   Zhang,S.Y., Surapureddi,S., Coulter,S., Ferguson,S.S. and
            Goldstein,J.A.
  TITLE     Human CYP2C8 is post-transcriptionally regulated by microRNAs 103
            and 107 in human liver
  JOURNAL   Mol. Pharmacol. 82 (3), 529-540 (2012)
   PUBMED   22723340
  REMARK    GeneRIF: The translation efficiency (protein/mRNA ratio) for CYP2C8
            was inversely correlated with the expression of miR-103 and
            miR-107.
REFERENCE   5  (bases 1 to 1799)
  AUTHORS   Ovsyannikova,I.G., Kennedy,R.B., O'Byrne,M., Jacobson,R.M.,
            Pankratz,V.S. and Poland,G.A.
  TITLE     Genome-wide association study of antibody response to smallpox
            vaccine
  JOURNAL   Vaccine 30 (28), 4182-4189 (2012)
   PUBMED   22542470
REFERENCE   6  (bases 1 to 1799)
  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 1799)
  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. PMID: 8095407]
REFERENCE   8  (bases 1 to 1799)
  AUTHORS   Ged,C. and Beaune,P.
  TITLE     Isolation of the human cytochrome P-450 IIC8 gene: multiple
            glucocorticoid responsive elements in the 5' region
  JOURNAL   Biochim. Biophys. Acta 1088 (3), 433-435 (1991)
   PUBMED   1707679
REFERENCE   9  (bases 1 to 1799)
  AUTHORS   Kolyada,A.Y.
  TITLE     Sequence of a human liver cytochrome P-450 cDNA clone
  JOURNAL   Nucleic Acids Res. 18 (18), 5550 (1990)
   PUBMED   2216732
REFERENCE   10 (bases 1 to 1799)
  AUTHORS   Shephard,E.A., Phillips,I.R., Santisteban,I., Palmer,C.N. and
            Povey,S.
  TITLE     Cloning, expression and chromosomal localization of a member of the
            human cytochrome P450IIC gene sub-family
  JOURNAL   Ann. Hum. Genet. 53 (PT 1), 23-31 (1989)
   PUBMED   2729895
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293327.1, AK293328.1 and
            M21941.1.
            
            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 its
            expression is induced by phenobarbital. The enzyme is known to
            metabolize many xenobiotics, including the anticonvulsive drug
            mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer
            drug taxol. This gene is located within a cluster of cytochrome
            P450 genes on chromosome 10q24. Several transcript variants
            encoding a few different isoforms have been found for this gene.
            [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (c)
            has a shorter and distinct N-terminus compared to 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 :: AK293328.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-157               AK293327.1         1-157
            158-1466            AK293328.1         158-1466
            1467-1799           M21941.1           1467-1799
FEATURES             Location/Qualifiers
     source          1..1799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..1799
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /note="cytochrome P450, family 2, subfamily C, polypeptide
                     8"
                     /db_xref="GeneID:1558"
                     /db_xref="HGNC:2622"
                     /db_xref="MIM:601129"
     exon            1..301
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     variation       10
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11572066"
     misc_feature    265..267
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /note="upstream in-frame stop codon"
     CDS             277..1443
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /EC_number="1.14.14.1"
                     /note="isoform c is encoded by transcript variant 3;
                     microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; P450 form 1; cytochrome
                     P450, subfamily IIC (mephenytoin 4-hydroxylase),
                     polypeptide 8; cytochrome P450 2C8; s-mephenytoin
                     4-hydroxylase; cytochrome P450 IIC2; cytochrome P450
                     MP-12; cytochrome P450 MP-20; cytochrome P450 form 1"
                     /codon_start=1
                     /product="cytochrome P450 2C8 isoform c"
                     /protein_id="NP_001185783.1"
                     /db_xref="GI:311893311"
                     /db_xref="CCDS:CCDS55721.1"
                     /db_xref="GeneID:1558"
                     /db_xref="HGNC:2622"
                     /db_xref="MIM:601129"
                     /translation="
MFLQPIAKGIISSNGKRWKEIRRFSLTTLRNFGMGKRSIEDRVQEEAHCLVEELRKTKASPCDPTFILGCAPCNVICSVVFQKRFDYKDQNFLTLMKRFNENFRILNSPWIQVCNNFPLLIDCFPGTHNKVLKNVALTRSYIREKVKEHQASLDVNNPRDFIDCFLIKMEQEKDNQKSEFNIENLVGTVADLFVAGTETTSTTLRYGLLLLLKHPEVTAKVQEEIDHVIGRHRSPCMQDRSHMPYTDAVVHEIQRYSDLVPTGVPHAVTTDTKFRNYLIPKGTTIMALLTSVLHDDKEFPNPNIFDPGHFLDKNGNFKKSDYFMPFSAGKRICAGEGLARMELFLFLTTILQNFNLKSVDDLKNLNTTAVTKGIVSLPPSYQICFIPV
"
     misc_feature    289..1431
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /note="Cytochrome P450; Region: p450; pfam00067"
                     /db_xref="CDD:200971"
     misc_feature    <301..1428
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /note="Cytochrome P450 [Secondary metabolites
                     biosynthesis, transport, and catabolism]; Region: CypX;
                     cl12078"
                     /db_xref="CDD:212625"
     misc_feature    1273..1275
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /note="heme binding site"
     exon            302..451
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     variation       386
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11572080"
     variation       445
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:72558196"
     variation       450
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11572081"
     exon            452..612
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     exon            613..789
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     variation       700
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11572102"
     variation       762
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1058930"
     variation       775
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:11572103"
     exon            790..931
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     variation       927
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1141675"
     exon            932..1119
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     variation       1029
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11188150"
     exon            1120..1261
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     variation       1180
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:66501115"
     exon            1262..1799
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /inference="alignment:Splign:1.39.8"
     variation       1352..1354
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace=""
                     /replace="ttg"
                     /db_xref="dbSNP:3832694"
     STS             1433..1609
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /standard_name="RH69099"
                     /db_xref="UniSTS:66683"
     variation       1467
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1058932"
     variation       1532
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:28399518"
     STS             1563..1727
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
                     /standard_name="RH79997"
                     /db_xref="UniSTS:85675"
     polyA_signal    1771..1776
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
     polyA_site      1793
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
     polyA_site      1799
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20"
ORIGIN      
acatgtcaaagagacacacactaaattagcagggagtgttataaaaactttggagtgcaagctcacagctgtcttaataagaagagaaggcttcaatggaaccttttgtggtcctggtgctgtgtctctcttttatgcttctcttttcactctggagacagagctgtaggagaaggaagctccctcctggccccactcctcttcctattattggaaatatgctacagatagatgttaaggacatctgcaaatctttcaccaatgtaagtctgccttatgttcctccagccaattgcaaagggaatcatttccagcaatggaaagagatggaaggagatccggcgtttctccctcacaaccttgcggaattttgggatggggaagaggagcattgaggaccgtgttcaagaggaagctcactgccttgtggaggagttgagaaaaaccaaggcttcaccctgtgatcccactttcatcctgggctgtgctccctgcaatgtgatctgctccgttgttttccagaaacgatttgattataaagatcagaattttctcaccctgatgaaaagattcaatgaaaacttcaggattctgaactccccatggatccaggtctgcaataatttccctctactcattgattgtttcccaggaactcacaacaaagtgcttaaaaatgttgctcttacacgaagttacattagggagaaagtaaaagaacaccaagcatcactggatgttaacaatcctcgggactttatcgattgcttcctgatcaaaatggagcaggaaaaggacaaccaaaagtcagaattcaatattgaaaacttggttggcactgtagctgatctatttgttgctggaacagagacaacaagcaccactctgagatatggactcctgctcctgctgaagcacccagaggtcacagctaaagtccaggaagagattgatcatgtaattggcagacacaggagcccctgcatgcaggataggagccacatgccttacactgatgctgtagtgcacgagatccagagatacagtgaccttgtccccaccggtgtgccccatgcagtgaccactgatactaagttcagaaactacctcatccccaagggcacaaccataatggcattactgacttccgtgctacatgatgacaaagaatttcctaatccaaatatctttgaccctggccactttctagataagaatggcaactttaagaaaagtgactacttcatgcctttctcagcaggaaaacgaatttgtgcaggagaaggacttgcccgcatggagctatttttatttctaaccacaattttacagaactttaacctgaaatctgttgatgatttaaagaacctcaatactactgcagttaccaaagggattgtttctctgccaccctcataccagatctgcttcatccctgtctgaagaatgctagcccatctggctgccgatctgctatcacctgcaactctttttttatcaaggacattcccactattatgtcttctctgacctctcatcaaatcttcccattcactcaatatcccataagcatccaaactccattaaggagagttgttcaggtcactgcacaaatatatctgcaattattcatactctgtaacacttgtattaattgctgcatatgctaatacttttctaatgctgactttttaatatgttatcactgtaaaacacagaaaagtgattaatgaatgataatttagatccatttcttttgtgaatgtgctaaataaaaagtgttattaattgctggttca
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1558 -> Molecular function: GO:0004497 [monooxygenase activity] evidence: IDA
            GeneID:1558 -> Molecular function: GO:0005506 [iron ion binding] evidence: IEA
            GeneID:1558 -> Molecular function: GO:0009055 [electron carrier activity] evidence: IEA
            GeneID:1558 -> Molecular function: GO:0020037 [heme binding] evidence: IEA
            GeneID:1558 -> Molecular function: GO:0034875 [caffeine oxidase activity] evidence: IDA
            GeneID:1558 -> Molecular function: GO:0070330 [aromatase activity] evidence: IEA
            GeneID:1558 -> Biological process: GO:0006082 [organic acid metabolic process] evidence: IDA
            GeneID:1558 -> Biological process: GO:0006805 [xenobiotic metabolic process] evidence: TAS
            GeneID:1558 -> Biological process: GO:0017144 [drug metabolic process] evidence: IDA
            GeneID:1558 -> Biological process: GO:0019369 [arachidonic acid metabolic process] evidence: TAS
            GeneID:1558 -> Biological process: GO:0019373 [epoxygenase P450 pathway] evidence: TAS
            GeneID:1558 -> Biological process: GO:0042738 [exogenous drug catabolic process] evidence: IDA
            GeneID:1558 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:1558 -> Biological process: GO:0055114 [oxidation-reduction process] evidence: IDA
            GeneID:1558 -> Biological process: GO:0070989 [oxidative demethylation] evidence: IDA
            GeneID:1558 -> Biological process: GO:0097267 [omega-hydroxylase P450 pathway] evidence: TAS
            GeneID:1558 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: NAS
            GeneID:1558 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001185783 -> EC 1.14.14.1

by @meso_cacase at DBCLS
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