2024-03-28 17:14:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000769 1473 bp mRNA linear PRI 15-JUL-2013 DEFINITION Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. ACCESSION NM_000769 VERSION NM_000769.1 GI:4503218 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 1473) AUTHORS Grosdidier,C., Quilici,J., Loosveld,M., Camoin,L., Moro,P.J., Saut,N., Gaborit,B., Pankert,M., Cohen,W., Lambert,M., Beguin,S., Morange,P.E., Bonnet,J.L., Alessi,M.C. and Cuisset,T. TITLE Effect of CYP2C19*2 and *17 genetic variants on platelet response to clopidogrel and prasugrel maintenance dose and relation to bleeding complications JOURNAL Am. J. Cardiol. 111 (7), 985-990 (2013) PUBMED 23340030 REMARK GeneRIF: In acute coronary syndrome, clopidogrel and prasugrel have genetic modulation by CYP2C19 *2 and *17 alleles and prasugrel provides greater platelet inhibition, regardless of genotypes. LTPR was associated with a greater risk of bleeding. REFERENCE 2 (bases 1 to 1473) AUTHORS Yang,J., Zhao,H.D., Tan,J., Ding,Y.L., Gu,Z.Q. and Zou,J.J. TITLE CYP2C19 polymorphism and antiplatelet effects of clopidogrel in Chinese stroke patients JOURNAL Pharmazie 68 (3), 183-186 (2013) PUBMED 23556336 REMARK GeneRIF: In those patients who were carriers of 1 mutant allele (mutant heterozygotes, CYP2C19*1/*2 or *1/*3), ADP-induced maximum platelet aggregation were significantly different compared with wild-type homozygous patients REFERENCE 3 (bases 1 to 1473) AUTHORS Musumba,C.O., Jorgensen,A., Sutton,L., Van Eker,D., Zhang,E., O'Hara,N., Carr,D.F., Pritchard,D.M. and Pirmohamed,M. TITLE CYP2C19*17 gain-of-function polymorphism is associated with peptic ulcer disease JOURNAL Clin. Pharmacol. Ther. 93 (2), 195-203 (2013) PUBMED 23267857 REMARK GeneRIF: CYP2C19*17, a gain-of-function polymorphism, is associated with PUD irrespective of etiology. REFERENCE 4 (bases 1 to 1473) AUTHORS Peng,H.M. and Auchus,R.J. TITLE The action of cytochrome b(5) on CYP2E1 and CYP2C19 activities requires anionic residues D58 and D65 JOURNAL Biochemistry 52 (1), 210-220 (2013) PUBMED 23193974 REMARK GeneRIF: Cytochrome b(5) residues D58 and D65 are essential for the stimulation of CYP2E1 and CYP2C19 activities and that the phospholipid composition significantly influences the b(5)-P450 interaction. REFERENCE 5 (bases 1 to 1473) AUTHORS Sanford,J.C., Guo,Y., Sadee,W. and Wang,D. TITLE Regulatory polymorphisms in CYP2C19 affecting hepatic expression JOURNAL Drug Metabol Drug Interact 28 (1), 23-30 (2013) PUBMED 23412869 REMARK GeneRIF: Our findings confirm *17 as a regulatory polymorphism enhancing hepatic CYP2C19 expression 2-fold with potential to compensate for the loss of function allele CYP2C19*2 REFERENCE 6 (bases 1 to 1473) 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 1473) 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 1473) 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 9 (bases 1 to 1473) 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 10 (bases 1 to 1473) 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 M61854.1. This sequence is a reference standard in the RefSeqGene project. 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]. 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 :: M61854.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1473 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q24" gene 1..1473 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /note="cytochrome P450, family 2, subfamily C, polypeptide 19" /db_xref="GeneID:1557" /db_xref="HGNC:2621" /db_xref="HPRD:00486" /db_xref="MIM:124020" CDS 1..1473 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /EC_number="1.14.13.48" /EC_number="1.14.13.49" /EC_number="1.14.13.80" /note="microsomal monooxygenase; xenobiotic monooxygenase; flavoprotein-linked monooxygenase; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19; mephenytoin 4'-hydroxylase; cytochrome P450 2C19; S-mephenytoin 4-hydroxylase; cytochrome P-450 II C; CYPIIC17; CYPIIC19; cytochrome P450-11A; cytochrome P450-254C; (R)-limonene 6-monooxygenase; (S)-limonene 6-monooxygenase; (S)-limonene 7-monooxygenase" /codon_start=1 /product="cytochrome P450 2C19 precursor" /protein_id="NP_000760.1" /db_xref="GI:4503219" /db_xref="CCDS:CCDS7436.1" /db_xref="GeneID:1557" /db_xref="HGNC:2621" /db_xref="HPRD:00486" /db_xref="MIM:124020" /translation="
MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKIYGPVFTLYFGLERMVVLHGYEVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASPCDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFMESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVTAKVQEEIERVIGRNRSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRNYLIPKGTTILTSLTSVLHDNKEFPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNLKSLIDPKDLDTTPVVNGFASVPPFYQLCFIPV
" sig_peptide 1..75 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 88..1461 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /note="Cytochrome P450; Region: p450; pfam00067" /db_xref="CDD:200971" misc_feature 91..1410 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /note="Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]; Region: CypX; cl12078" /db_xref="CDD:212625" misc_feature 1303..1305 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /note="heme binding site" STS 1..1473 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /db_xref="UniSTS:481123" exon 1..168 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 1 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:28399504" variation 4 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:377381376" variation 7 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:367543002" variation 10 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:367543003" variation 22 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:141890453" variation 28 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:200381600" STS 30..167 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /standard_name="GDB:193845" /db_xref="UniSTS:155761" variation 46 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:147255955" variation 50 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:55752064" variation 55 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:17882687" variation 65 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:144928727" variation 72 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:147949502" variation 99 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:17885098" exon 169..331 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 190 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:150045105" variation 193 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:202036394" variation 217 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:145328984" variation 218 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:201306972" variation 221 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:28399505" variation 241 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:149072229" variation 265 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:143075956" variation 271 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:118203756" variation 276 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:17878459" variation 292 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:375159521" variation 305 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:372985779" variation 326 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:200347843" variation 329 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="t" /db_xref="dbSNP:112197069" exon 332..481 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 335 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:372875966" variation 336 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:201723068" variation 337 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:145119820" variation 358 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:41291556" variation 365 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:17885179" variation 370 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:202170044" variation 371 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:200346442" variation 373 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:200150287" variation 374 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:141774245" variation 389 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:150152656" variation 390 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:17882291" variation 392 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:371309036" variation 394 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:149590953" variation 395 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:72552267" variation 409 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:374950950" variation 417 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:140736981" variation 430 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:368767518" variation 431 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:17884712" variation 439 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:371603566" variation 440 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:147453531" variation 442 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:148593307" variation 448 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:142974781" variation 449 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:58973490" variation 463 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:374036992" variation 478 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:375760063" variation 481 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:181297724" exon 482..642 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 502 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:28399510" variation 518 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:61311738" variation 527 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:57700608" variation 556 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:183701923" variation 557 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:140278421" variation 562 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:370803989" variation 566 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="t" /db_xref="dbSNP:373613403" variation 570 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:369901889" variation 593 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:186489608" STS 600..883 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /standard_name="GDB:364113" /db_xref="UniSTS:156806" variation 636 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:4986893" exon 643..819 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 676 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="t" /db_xref="dbSNP:200362177" variation 680 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:6413438" variation 681 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:4244285" variation 721..722 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="" /replace="g" /db_xref="dbSNP:72558185" variation 753 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:148247410" variation 766 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:375781227" variation 798 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:140267616" variation 801 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:377674118" exon 820..961 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 834 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:145232070" variation 836 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:61526399" variation 839 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:58744432" variation 848 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:201391010" variation 853 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:141533135" variation 865 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:371913046" variation 894 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:200717347" variation 896 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:199597498" variation 903 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:17879239" variation 905 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:58259047" exon 962..1149 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 985 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:59734894" variation 986 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:138142612" variation 990 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:3758580" variation 991 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:3758581" variation 993 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:58068888" variation 1003 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:368758960" variation 1004 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:118203757" variation 1007 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:143833145" variation 1014 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:370320936" variation 1016 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:146357635" variation 1030 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:55681001" variation 1034 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="t" /db_xref="dbSNP:201132803" variation 1048 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:201509150" variation 1058 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:373024844" variation 1059 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:17882744" variation 1062 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:56401472" variation 1067 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:371241592" variation 1076 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="t" /db_xref="dbSNP:374493781" variation 1077 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:370051475" variation 1078 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:144036596" variation 1107 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:201511483" variation 1119 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:150933530" variation 1120 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:113934938" exon 1150..1291 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 1150 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:188851578" variation 1159 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:372873637" variation 1180 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:55948420" variation 1197 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:377184510" variation 1216 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:144056033" variation 1228 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:17879685" variation 1229 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:367674480" variation 1251 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:17886522" variation 1262 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:145599727" variation 1288 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:369403039" exon 1292..1473 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /inference="alignment:Splign:1.39.8" variation 1295 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="t" /db_xref="dbSNP:146991374" variation 1297 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:56337013" variation 1316 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="" /replace="g" /db_xref="dbSNP:5787121" variation 1320 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:202150773" variation 1324 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:192154563" variation 1325 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:138112316" variation 1344 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="g" /db_xref="dbSNP:118203759" variation 1349 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:141690375" variation 1351 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="t" /db_xref="dbSNP:376426772" variation 1352 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:369665827" variation 1381 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:147052245" variation 1386 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="g" /replace="t" /db_xref="dbSNP:200174624" variation 1390 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /db_xref="dbSNP:58519063" variation 1396 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:201302485" variation 1398 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="c" /replace="t" /db_xref="dbSNP:375283723" variation 1440 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="g" /db_xref="dbSNP:28399514" variation 1473 /gene="CYP2C19" /gene_synonym="CPCJ; CYP2C; P450C2C; P450IIC19" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:55640102" ORIGIN
atggatccttttgtggtccttgtgctctgtctctcatgtttgcttctcctttcaatctggagacagagctctgggagaggaaaactccctcctggccccactcctctcccagtgattggaaatatcctacagatagatattaaggatgtcagcaaatccttaaccaatctctcaaaaatctatggccctgtgttcactctgtattttggcctggaacgcatggtggtgctgcatggatatgaagtggtgaaggaagccctgattgatcttggagaggagttttctggaagaggccatttcccactggctgaaagagctaacagaggatttggaatcgttttcagcaatggaaagagatggaaggagatccggcgtttctccctcatgacgctgcggaattttgggatggggaagaggagcattgaggaccgtgttcaagaggaagcccgctgccttgtggaggagttgagaaaaaccaaggcttcaccctgtgatcccactttcatcctgggctgtgctccctgcaatgtgatctgctccattattttccagaaacgtttcgattataaagatcagcaatttcttaacttgatggaaaaattgaatgaaaacatcaggattgtaagcaccccctggatccagatatgcaataattttcccactatcattgattatttcccgggaacccataacaaattacttaaaaaccttgcttttatggaaagtgatattttggagaaagtaaaagaacaccaagaatcgatggacatcaacaaccctcgggactttattgattgcttcctgatcaaaatggagaaggaaaagcaaaaccaacagtctgaattcactattgaaaacttggtaatcactgcagctgacttacttggagctgggacagagacaacaagcacaaccctgagatatgctctccttctcctgctgaagcacccagaggtcacagctaaagtccaggaagagattgaacgtgtcattggcagaaaccggagcccctgcatgcaggacaggggccacatgccctacacagatgctgtggtgcacgaggtccagagatacatcgacctcatccccaccagcctgccccatgcagtgacctgtgacgttaaattcagaaactacctcattcccaagggcacaaccatattaacttccctcacttctgtgctacatgacaacaaagaatttcccaacccagagatgtttgaccctcgtcactttctggatgaaggtggaaattttaagaaaagtaactacttcatgcctttctcagcaggaaaacggatttgtgtgggagagggcctggcccgcatggagctgtttttattcctgaccttcattttacagaactttaacctgaaatctctgattgacccaaaggaccttgacacaactcctgttgtcaatggatttgcttctgtcccgcccttctatcagctgtgcttcattcctgtctga
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1557 -> Molecular function: GO:0004497 [monooxygenase activity] evidence: IDA GeneID:1557 -> Molecular function: GO:0005506 [iron ion binding] evidence: IEA GeneID:1557 -> Molecular function: GO:0008395 [steroid hydroxylase activity] evidence: IMP GeneID:1557 -> Molecular function: GO:0009055 [electron carrier activity] evidence: IEA GeneID:1557 -> Molecular function: GO:0016491 [oxidoreductase activity] evidence: IDA GeneID:1557 -> Molecular function: GO:0018675 [(S)-limonene 6-monooxygenase activity] evidence: IEA GeneID:1557 -> Molecular function: GO:0018676 [(S)-limonene 7-monooxygenase activity] evidence: IEA GeneID:1557 -> Molecular function: GO:0019825 [oxygen binding] evidence: TAS GeneID:1557 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI GeneID:1557 -> Molecular function: GO:0020037 [heme binding] evidence: IDA GeneID:1557 -> Molecular function: GO:0052741 [(R)-limonene 6-monooxygenase activity] evidence: IEA GeneID:1557 -> Biological process: GO:0006805 [xenobiotic metabolic process] evidence: TAS GeneID:1557 -> Biological process: GO:0008202 [steroid metabolic process] evidence: IMP GeneID:1557 -> Biological process: GO:0016098 [monoterpenoid metabolic process] evidence: IDA GeneID:1557 -> Biological process: GO:0017144 [drug metabolic process] evidence: IDA GeneID:1557 -> Biological process: GO:0019369 [arachidonic acid metabolic process] evidence: TAS GeneID:1557 -> Biological process: GO:0019373 [epoxygenase P450 pathway] evidence: TAS GeneID:1557 -> Biological process: GO:0042738 [exogenous drug catabolic process] evidence: IDA GeneID:1557 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:1557 -> Biological process: GO:0046483 [heterocycle metabolic process] evidence: IDA GeneID:1557 -> Biological process: GO:0055114 [oxidation-reduction process] evidence: IDA GeneID:1557 -> Biological process: GO:0097267 [omega-hydroxylase P450 pathway] evidence: TAS GeneID:1557 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS GeneID:1557 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: TAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_000760 -> EC 1.14.13.48 NP_000760 -> EC 1.14.13.49 NP_000760 -> EC 1.14.13.80
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