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    CYP2C8 cytochrome P450 family 2 subfamily C member 8 [ Homo sapiens (human) ]

    Gene ID: 1558, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CYP2C8provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily C member 8provided by HGNC
    Primary source
    HGNC:HGNC:2622
    See related
    Ensembl:ENSG00000138115 MIM:601129; AllianceGenome:HGNC:2622
    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
    CPC8; CYPIIC8; CYP2C8DM; MP-12/MP-20
    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]
    Expression
    Restricted expression toward liver (RPKM 350.3) See more
    Orthologs
    all
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    Genomic context

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    See CYP2C8 in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (95036772..95069497, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (95915890..95948616, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96796529..96829254, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 2 subfamily C member 59, pseudogene Neighboring gene cytochrome P450 family 2 subfamily C member 60, pseudogene Neighboring gene CYP2C8 promoter Neighboring gene -8 kb enhancer of CYP2C8 Neighboring gene Sharpr-MPRA regulatory region 2936 Neighboring gene uncharacterized LOC107984257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2639 Neighboring gene pro-apoptotic WT1 regulator pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:96961907-96962201 Neighboring gene acyl-CoA synthetase medium chain family member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96987152-96987893 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96988638-96989207

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CYP2C8 haplotype structures and their influence on pharmacokinetics of paclitaxel in a Japanese population. Saito Y, et al. Pharmacogenet Genomics, 2007 Jul. PMID 17558302
    2. Impact of the CYP2C8 *3 polymorphism on the drug-drug interaction between gemfibrozil and pioglitazone. Aquilante CL, et al. Br J Clin Pharmacol, 2013 Jan. PMID 22625877, Free PMC Article
    3. Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis. Sarasquete ME, et al. Blood, 2008 Oct 1. PMID 18594024
    4. Functional role of Ile264 in CYP2C8: mutations affect haem incorporation and catalytic activity. Singh R, et al. Drug Metab Pharmacokinet, 2008. PMID 18574320
    5. Association between CYP2C8 (rs1934951) polymorphism and bisphosphonate-related osteonecrosis of the jaws in patients on bisphosphonate therapy: a meta-analysis. Zhong DN, et al. Acta Haematol, 2013. PMID 23171856

    See all (240) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Cytochrome P450 2C8*3 Variant (rs11572080) Is Associated with Improved Asthma Symptom Control in Children and Altered Lipid Mediator Production and Inflammatory Response in Human Bronchial Epithelial Cells.
      Title: The Cytochrome P450 2C8*3 Variant (rs11572080) Is Associated with Improved Asthma Symptom Control in Children and Altered Lipid Mediator Production and Inflammatory Response in Human Bronchial Epithelial Cells.
    2. Potential Association of Cytochrome P450 Copy Number Alteration in Tumour with Chemotherapy Resistance in Lung Adenocarcinoma Patients.
      Title: Potential Association of Cytochrome P450 Copy Number Alteration in Tumour with Chemotherapy Resistance in Lung Adenocarcinoma Patients.
    3. Functional Characterization of Allelic Variations of Human Cytochrome P450 2C8 (V181I, I244V, I331T, and L361F).
      Title: Functional Characterization of Allelic Variations of Human Cytochrome P450 2C8 (V181I, I244V, I331T, and L361F).
    4. CYP2D6 and CYP2C8 pharmacogenetics and pharmacological interactions to predict imatinib plasmatic exposure in GIST patients.
      Title: CYP2D6 and CYP2C8 pharmacogenetics and pharmacological interactions to predict imatinib plasmatic exposure in GIST patients.
    5. CYP2C8 and CYP2J2 gene variations increase the risk of hypertensive intracerebral hemorrhage.
      Title: CYP2C8 and CYP2J2 gene variations increase the risk of hypertensive intracerebral hemorrhage.
    6. [Evaluation of the association of polymorphisms of the CYP2C8 gene with the efficacy and safety of ketorolac in patients with postoperative pain syndrome].
      Title: [Evaluation of the association of polymorphisms of the CYP2C8 gene with the efficacy and safety of ketorolac in patients with postoperative pain syndrome].
    7. The impact of genetic variants in the CYP2C8 gene on bladder cancer susceptibility.
      Title: The impact of genetic variants in the CYP2C8 gene on bladder cancer susceptibility.
    8. The anti-inflammatory role of placental Hofbauer cells is altered in patients with chorioamnionitis: Are CYP2C8 and soluble epoxide hydrolase involved in immunomodulation?
      Title: The anti-inflammatory role of placental Hofbauer cells is altered in patients with chorioamnionitis: Are CYP2C8 and soluble epoxide hydrolase involved in immunomodulation?
    9. Variability of CYP2C8 Polymorphisms in Three Jordanian Populations: Circassians, Chechens and Jordanian-Arabs.
      Title: Variability of CYP2C8 Polymorphisms in Three Jordanian Populations: Circassians, Chechens and Jordanian-Arabs.
    10. The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals.
      Title: The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals.
    Submit: New GeneRIF Correction See all GeneRIFs (144)

    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

    Associated conditions

    Description Tests
    DRUG METABOLISM, ALTERED, CYP2C8-RELATED
    MedGen: C4693948 OMIM: 618018 GeneReviews: Not available
    		Compare labs
    Pioglitazone response
    MedGen: CN427422 GeneReviews: Not available
    		Compare labs
    Rosiglitazone response
    MedGen: CN427421 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy.
    EBI GWAS Catalog
    Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis.
    EBI GWAS Catalog
    Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog
    Genome-wide association study of antibody response to smallpox vaccine.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 arachidonate epoxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aromatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables caffeine oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables estrogen 16-alpha-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monooxygenase activity TAS
    Traceable Author Statement
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables retinoic acid 4-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in epoxygenase P450 pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epoxygenase P450 pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epoxygenase P450 pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in estrogen metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in icosanoid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid hydroxylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in long-chain fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in omega-hydroxylase P450 pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in organic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oxidative demethylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinoic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome P450 2C8
    Names
    P450 form 1
    cytochrome P450 IIC2
    cytochrome P450 MP-12
    cytochrome P450 MP-20
    cytochrome P450 form 1
    cytochrome P450, family 2, subfamily C, polypeptide 8
    cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8
    flavoprotein-linked monooxygenase
    microsomal monooxygenase
    s-mephenytoin 4-hydroxylase
    xenobiotic monooxygenase
    NP_000761.3
    NP_001185782.1
    NP_001185783.1
    NP_001185784.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_007972.1 RefSeqGene

      Range
      5001..37726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000770.3 → NP_000761.3  cytochrome P450 2C8 isoform a

      See identical proteins and their annotated locations for NP_000761.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC020596, M21941, Y00498
      Consensus CDS
      CCDS7438.1
      UniProtKB/Swiss-Prot
      A8K9N8, B0AZN2, B7Z1F6, P10632, Q5VX93, Q8WWB1, Q9UCZ9
      Related
      ENSP00000360317.3, ENST00000371270.6
      Conserved Domains (1) summary
      pfam00067
      Location:30 → 487
      p450; Cytochrome P450

    2. NM_001198853.1 → NP_001185782.1  cytochrome P450 2C8 isoform b

      See identical proteins and their annotated locations for NP_001185782.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 4 both encode the same isoform (b).
      Source sequence(s)
      AK293327, M21941
      Consensus CDS
      CCDS73166.1
      UniProtKB/TrEMBL
      B7Z1F5, B7Z8S1, F5H7Q9
      Related
      ENSP00000485110.1, ENST00000623108.3
      Conserved Domains (1) summary
      pfam00067
      Location:3 → 417
      p450; Cytochrome P450

    3. NM_001198854.1 → NP_001185783.1  cytochrome P450 2C8 isoform c

      See identical proteins and their annotated locations for NP_001185783.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AK293327, AK293328, M21941
      Consensus CDS
      CCDS55721.1
      UniProtKB/TrEMBL
      B7Z8S1
      Related
      ENSP00000445062.1, ENST00000535898.5
      Conserved Domains (1) summary
      pfam00067
      Location:5 → 385
      p450; Cytochrome P450

    4. NM_001198855.1 → NP_001185784.1  cytochrome P450 2C8 isoform b

      See identical proteins and their annotated locations for NP_001185784.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 4 both encode the same isoform (b).
      Source sequence(s)
      AK293327, CD014119, M21941
      Consensus CDS
      CCDS73166.1
      UniProtKB/TrEMBL
      B7Z1F5, B7Z8S1, F5H7Q9
      Conserved Domains (1) summary
      pfam00067
      Location:3 → 417
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      95036772..95069497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      95915890..95948616 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_030878.1: Suppressed sequence

      Description
      NM_030878.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10632.2 GenPept UniProtKB/Swiss-Prot:P10632

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
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