LOCUS       NM_000762               1761 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily A member 6
            (CYP2A6), mRNA.
ACCESSION   NM_000762
VERSION     NM_000762.6
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 1761)
  AUTHORS   Langlois,A.W.R., Pouget,J.G., Knight,J., Chenoweth,M.J. and
            Tyndale,R.F.
  TITLE     Associating CYP2A6 structural variants with ovarian and lung cancer
            risk in the UK Biobank: replication and extension
  JOURNAL   Eur J Hum Genet 32 (3), 357-360 (2024)
   PUBMED   38097766
  REMARK    GeneRIF: Associating CYP2A6 structural variants with ovarian and
            lung cancer risk in the UK Biobank: replication and extension.
REFERENCE   2  (bases 1 to 1761)
  AUTHORS   Giratallah,H., Chenoweth,M.J., Pouget,J.G., El-Boraie,A.,
            Alsaafin,A., Lerman,C., Knight,J. and Tyndale,R.F.
  TITLE     CYP2A6 associates with respiratory disease risk and younger age of
            diagnosis: a phenome-wide association Mendelian Randomization study
  JOURNAL   Hum Mol Genet 33 (2), 198-210 (2024)
   PUBMED   37802914
  REMARK    GeneRIF: CYP2A6 associates with respiratory disease risk and
            younger age of diagnosis: a phenome-wide association Mendelian
            Randomization study.
REFERENCE   3  (bases 1 to 1761)
  AUTHORS   Ferrari,E., Cornali,C., Fiorindi,A., Agosti,E., Gallone,S.,
            Rubino,E., Ponzio,F., Fontanella,M.M. and De Maria,L.
  TITLE     Cigarette Smoking and Intracranial Aneurysms: A Pilot Analysis of
            SNPs in the CYP2A6 Gene in the Italian Population
  JOURNAL   World Neurosurg 179, e492-e499 (2023)
   PUBMED   37689358
  REMARK    GeneRIF: Cigarette Smoking and Intracranial Aneurysms: A Pilot
            Analysis of SNPs in the CYP2A6 Gene in the Italian Population.
REFERENCE   4  (bases 1 to 1761)
  AUTHORS   Langlois,A.W.R., El-Boraie,A., Pouget,J.G., Cox,L.S.,
            Ahluwalia,J.S., Fukunaga,K., Mushiroda,T., Knight,J.,
            Chenoweth,M.J. and Tyndale,R.F.
  TITLE     Genotyping, characterization, and imputation of known and novel
            CYP2A6 structural variants using SNP array data
  JOURNAL   J Hum Genet 68 (8), 533-541 (2023)
   PUBMED   37059825
  REMARK    GeneRIF: Genotyping, characterization, and imputation of known and
            novel CYP2A6 structural variants using SNP array data.
REFERENCE   5  (bases 1 to 1761)
  AUTHORS   Ding,X., Zhang,W., Yu,W., Li,Y., Shao,G., Zhang,L., Zhao,R.C. and
            Li,X.
  TITLE     Recurrent CYP2A6 gene mutation in biphasic hyalinizing psammomatous
            renal cell carcinoma: Additional support of three cases
  JOURNAL   Pathol Res Pract 245, 154468 (2023)
   PUBMED   37104959
  REMARK    GeneRIF: Recurrent CYP2A6 gene mutation in biphasic hyalinizing
            psammomatous renal cell carcinoma: Additional support of three
            cases.
REFERENCE   6  (bases 1 to 1761)
  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 1761)
  AUTHORS   Yun,C.H., Shimada,T. and Guengerich,F.P.
  TITLE     Purification and characterization of human liver microsomal
            cytochrome P-450 2A6
  JOURNAL   Mol Pharmacol 40 (5), 679-685 (1991)
   PUBMED   1944238
REFERENCE   8  (bases 1 to 1761)
  AUTHORS   Maurice,M., Emiliani,S., Dalet-Beluche,I., Derancourt,J. and
            Lange,R.
  TITLE     Isolation and characterization of a cytochrome P450 of the IIA
            subfamily from human liver microsomes
  JOURNAL   Eur J Biochem 200 (2), 511-517 (1991)
   PUBMED   1889415
REFERENCE   9  (bases 1 to 1761)
  AUTHORS   Yamano,S., Tatsuno,J. and Gonzalez,F.J.
  TITLE     The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human
            liver microsomes
  JOURNAL   Biochemistry 29 (5), 1322-1329 (1990)
   PUBMED   2322567
REFERENCE   10 (bases 1 to 1761)
  AUTHORS   Miles,J.S., Bickmore,W., Brook,J.D., McLaren,A.W., Meehan,R. and
            Wolf,C.R.
  TITLE     Close linkage of the human cytochrome P450IIA and P450IIB gene
            subfamilies: implications for the assignment of substrate
            specificity
  JOURNAL   Nucleic Acids Res 17 (8), 2907-2917 (1989)
   PUBMED   2726448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA641580.1, BC096254.1,
            BC096256.1 and X13897.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000762.5.
            
            Summary: This gene, CYP2A6, 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
            hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1,
            nitrosamines, and some pharmaceuticals. Individuals with certain
            allelic variants are said to have a poor metabolizer phenotype,
            meaning they do not efficiently metabolize coumarin or nicotine.
            This gene is part of a large cluster of cytochrome P450 genes from
            the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene
            was formerly referred to as CYP2A3; however, it has been renamed
            CYP2A6. [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 :: AK312964.1, SRR5189664.143627.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301141.10/ ENSP00000301141.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA641580.1         1-12
            13-71               BC096254.1         1-59
            72-1195             BC096256.1         60-1183
            1196-1655           BC096254.1         1184-1643
            1656-1761           X13897.1           1630-1735
FEATURES             Location/Qualifiers
     source          1..1761
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1761
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /note="cytochrome P450 family 2 subfamily A member 6"
                     /db_xref="GeneID:1548"
                     /db_xref="HGNC:HGNC:2610"
                     /db_xref="MIM:122720"
     exon            1..201
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1506
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /EC_number="1.14.14.1"
                     /note="xenobiotic monooxygenase; flavoprotein-linked
                     monooxygenase; coumarin 7-hydroxylase; cytochrome P450,
                     subfamily IIA (phenobarbital-inducible), polypeptide 6;
                     cytochrome P450(I); cytochrome P450 IIA3; 1,4-cineole
                     2-exo-monooxygenase; cytochrome P450, family 2, subfamily
                     A, polypeptide 6"
                     /codon_start=1
                     /product="cytochrome P450 2A6"
                     /protein_id="NP_000753.3"
                     /db_xref="CCDS:CCDS12568.1"
                     /db_xref="GeneID:1548"
                     /db_xref="HGNC:HGNC:2610"
                     /db_xref="MIM:122720"
                     /translation="MLASGMLLVALLVCLTVMVLMSVWQQRKSKGKLPPGPTPLPFIG
                     NYLQLNTEQMYNSLMKISERYGPVFTIHLGPRRVVVLCGHDAVREALVDQAEEFSGRG
                     EQATFDWVFKGYGVVFSNGERAKQLRRFSIATLRDFGVGKRGIEERIQEEAGFLIDAL
                     RGTGGANIDPTFFLSRTVSNVISSIVFGDRFDYKDKEFLSLLRMMLGIFQFTSTSTGQ
                     LYEMFSSVMKHLPGPQQQAFQLLQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQ
                     EEEKNPNTEFYLKNLVMTTLNLFIGGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRV
                     IGKNRQPKFEDRAKMPYMEAVIHEIQRFGDVIPMSLARRVKKDTKFRDFFLPKGTEVY
                     PMLGSVLRDPSFFSNPQDFNPQHFLNEKGQFKKSDAFVPFSIGKRNCFGEGLARMELF
                     LFFTTVMQNFRLKSSQSPKDIDVSPKHVGFATIPRNYTMSFLPR"
     exon            202..364
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     exon            365..514
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     exon            515..675
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     exon            676..852
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     exon            853..994
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1182
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1324
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..1761
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1737..1742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /note="hexamer: AATAAT"
     polyA_site      1761
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /note="major polyA site"
ORIGIN      
        1 atctatcatc ccactaccac catgctggcc tcagggatgc ttctggtggc cttgctggtc
       61 tgcctgactg taatggtctt gatgtctgtt tggcagcaga ggaagagcaa ggggaagctg
      121 cctccgggac ccaccccatt gcccttcatt ggaaactacc tgcagctgaa cacagagcag
      181 atgtacaact ccctcatgaa gatcagtgag cgctatggcc ccgtgttcac cattcacttg
      241 gggccccggc gggtcgtggt gctgtgtgga catgatgccg tcagggaggc tctggtggac
      301 caggctgagg agttcagcgg gcgaggcgag caagccacct tcgactgggt cttcaaaggc
      361 tatggcgtgg tattcagcaa cggggagcgc gccaagcagc tccggcgctt ctccatcgcc
      421 accctgcggg acttcggggt gggcaagcga ggcatcgagg agcgcatcca ggaggaggcg
      481 ggcttcctca tcgacgccct ccggggcact ggcggcgcca atatcgatcc caccttcttc
      541 ctgagccgca cagtctccaa tgtcatcagc tccattgtct ttggggaccg ctttgactat
      601 aaggacaaag agttcctgtc actgttgcgc atgatgctag gaatcttcca gttcacgtca
      661 acctccacgg ggcagctcta tgagatgttc tcttcggtga tgaaacacct gccaggacca
      721 cagcaacagg cctttcagtt gctgcaaggg ctggaggact tcatagccaa gaaggtggag
      781 cacaaccagc gcacgctgga tcccaattcc ccacgggact tcattgactc ctttctcatc
      841 cgcatgcagg aggaggagaa gaaccccaac acggagttct acttgaaaaa cctggtgatg
      901 accacgttga acctcttcat tgggggcacc gagaccgtca gcaccaccct gcgctatggc
      961 ttcttgctgc tcatgaagca cccagaggtg gaggccaagg tccatgagga gattgacaga
     1021 gtgatcggca agaaccggca gcccaagttt gaggaccggg ccaagatgcc ctacatggag
     1081 gcagtgatcc acgagatcca aagatttgga gacgtgatcc ccatgagttt ggcccgcaga
     1141 gtcaaaaagg acaccaagtt tcgggatttc ttcctcccta agggcaccga agtgtaccct
     1201 atgctgggct ctgtgctgag agaccccagt ttcttctcca acccccagga cttcaatccc
     1261 cagcacttcc tgaatgagaa ggggcagttt aagaagagtg atgcttttgt gcccttttcc
     1321 atcggaaagc ggaactgttt cggagaaggc ctggccagaa tggagctctt tctcttcttc
     1381 accaccgtca tgcagaactt ccgcctcaag tcctcccagt cacctaagga cattgacgtg
     1441 tcccccaaac acgtgggctt tgccacgatc ccacgaaact acaccatgag cttcctgccc
     1501 cgctgagcga gggctgtgcc ggtgcaggtc tggtgggcgg ggccagggaa agggcagggc
     1561 caagaccggg cttgggagag gggcgcagct aagactgggg gcaggatggc ggaaaggaag
     1621 gggcgtggtg gctagaggga agagaagaaa cagaagcggc tcagttcacc ttgataaggt
     1681 gcttccgagc tgggatgaga ggaaggaaac ccttacatta tgctatgaag agtagtaata
     1741 atagcagctc ttatttcctg a
//
