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    CYP2A7 cytochrome P450 family 2 subfamily A member 7 [ Homo sapiens (human) ]

    Gene ID: 1549, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CYP2A7provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily A member 7provided by HGNC
    Primary source
    HGNC:HGNC:2611
    See related
    Ensembl:ENSG00000198077 MIM:608054; AllianceGenome:HGNC:2611
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4
    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; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward liver (RPKM 27.5) See more
    Orthologs
    all
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    Genomic context

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    See CYP2A7 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40875439..40882231, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43696148..43702882, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41381344..41388136, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41332287-41332788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41332789-41333288 Neighboring gene cytochrome P450 family 2 subfamily F member 2, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41354211-41354710 Neighboring gene CYP2A6 5' regulatory region Neighboring gene cytochrome P450 family 2 subfamily A member 6 Neighboring gene Sharpr-MPRA regulatory region 12493 Neighboring gene cytochrome P450 family 2 subfamily G member 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10651 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41426957-41427227 Neighboring gene cytochrome P450 family 2 subfamily B member 7, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Walker LC, et al. Eur J Hum Genet, 2017 Apr. PMID 28145423, Free PMC Article
    2. Expression of xenobiotic-metabolizing cytochrome P450 forms in human adult and fetal liver. Hakkola J, et al. Biochem Pharmacol, 1994 Jul 5. PMID 8043031
    3. The CYP2A subfamily: function, expression and genetic polymorphism. Raunio H, et al. IARC Sci Publ, 1999. PMID 10493259
    4. Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls. Lutz SM, et al. Nicotine Tob Res, 2019 May 21. PMID 29767774, Free PMC Article
    5. Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity. Oscarson M, et al. Hum Mutat, 2002 Oct. PMID 12325023

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single nucleotide polymorphism in CYP2A7 gene is associated with smoking in whites with Chronic Obstructive Pulmonary Disease.
      Title: Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls.
    2. CNV deletion at the CYP2A7 is associated with decreased ovarian cancer risk in BRCA1 carriers.
      Title: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
    3. CYP2A7 affects CYP2A6 expression by competing for miR-126* binding.
      Title: CYP2A7 pseudogene transcript affects CYP2A6 expression in human liver by acting as a decoy for miR-126.
    4. Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
      Title: CYP2A7 polymorphic alleles confound the genotyping of CYP2A6*4A allele.
    5. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity.
    6. CYP2A6/2A7 and CYP2E1 expression in human oesophageal mucosa: regional and inter-individual variation in expression and relevance to nitrosamine metabolism
      Title: CYP2A6/2A7 and CYP2E1 expression in human oesophageal mucosa: regional and inter-individual variation in expression and relevance to nitrosamine metabolism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arachidonate epoxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxygen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in coumarin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epoxygenase P450 pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome P450 2A7
    Names
    cytochrome P450 IIA4
    cytochrome P450, family 2, subfamily A, polypeptide 7
    cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7
    cytochrome P450IIA4
    NP_000755.2
    NP_085079.2
    XP_047294235.1
    XP_054175989.1
    XP_054175990.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007960.1 RefSeqGene

      Range
      5001..12314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000764.3 → NP_000755.2  cytochrome P450 2A7 isoform 1

      See identical proteins and their annotated locations for NP_000755.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008537
      Consensus CDS
      CCDS12569.1
      UniProtKB/Swiss-Prot
      P20853, Q13121
      UniProtKB/TrEMBL
      B7ZKR0
      Related
      ENSP00000301146.4, ENST00000301146.9
      Conserved Domains (1) summary
      pfam00067
      Location:34 → 491
      p450; Cytochrome P450

    2. NM_030589.3 → NP_085079.2  cytochrome P450 2A7 isoform 2

      See identical proteins and their annotated locations for NP_085079.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as CYP2A7AS) lacks exon 2 within the coding region and includes 10 nt from intron 1, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This variant lacks publicly available transcript support but it is supported by data in PubMedID:7864805.
      Source sequence(s)
      AC008537
      UniProtKB/TrEMBL
      B7ZKR0, F8W816, Q17RW7
      Related
      ENSP00000291764.3, ENST00000291764.3
      Conserved Domains (1) summary
      pfam00067
      Location:34 → 440
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40875439..40882231 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438279.1 → XP_047294235.1  cytochrome P450 2A7 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43696148..43702882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320014.1 → XP_054175989.1  cytochrome P450 2A7 isoform X2

    2. XM_054320015.1 → XP_054175990.1  cytochrome P450 2A7 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20853.2 GenPept UniProtKB/Swiss-Prot:P20853

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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