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

Summary

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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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).
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.
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.
[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].
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.
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?
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.
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 EBI GWAS CatalogPubMed
Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of antibody response to smallpox vaccine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69099 (e-PCR)
- UniSTS:66683

RH79997 (e-PCR)
- UniSTS:85675

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arachidonate epoxygenase activity	IDA Inferred from Direct Assay more info	PubMed
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	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	IBA Inferred from Biological aspect of Ancestor 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

EC 1.14.14.1

NP_001185782.1

EC 1.14.14.1

NP_001185783.1

EC 1.14.14.1

NP_001185784.1

EC 1.14.14.1

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

NG_007972.1 RefSeqGene

Range

5001..37726

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

95036772..95069497 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_030878.1: Suppressed sequence

Description

NM_030878.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.