CYP2C18 cytochrome P450 family 2 subfamily C member 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2C18provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily C member 18provided by HGNC
Primary source: HGNC:HGNC:2620
See related: Ensembl:ENSG00000108242 MIM:601131; AllianceGenome:HGNC:2620
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: CPCI; CYP2C; CYP2C17; P450IIC17; P450-6B/29C
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 but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 50.3), duodenum (RPKM 49.6) and 5 other tissues See more
Orthologs: all
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Genomic context

Location:: 10q23.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (94683729..94736190)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (95562854..95615317)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (96443486..96495947)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of Escitalopram.
Title: A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of Escitalopram.
These results suggest that there is no notable influence of sequence variation in the CYP2C genes on longevity in the examined German population
Title: Genetic variation in the CYP2C monooxygenase enzyme subfamily shows no association with longevity in a German population.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Influence of the genetic polymorphisms in the 5' flanking and exonic regions of CYP2C19 on proguanil oxidation.
Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy.
Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: A genome-wide association study of acenocoumarol maintenance dosage.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE.
Despite the observed alterations, tg-CYP2C18&19 did not show any macroscopic or microscopic pathology at the examined age. Hence, these hemizygous transgenic mice were considered to be viable and healthy animals.
Title: Few alterations in clinical pathology and histopathology observed in a CYP2C18&19 humanized mice model.
Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Association of warfarin dose with genes involved in its action and metabolism.

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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

EBI GWAS Catalog

Description
A genome-wide association study of acenocoumarol maintenance dosage. 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
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH2 (e-PCR)
- UniSTS:58153

NoName (e-PCR)
- UniSTS:482629

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables linoleic acid epoxygenase activity	IEA Inferred from Electronic Annotation more info
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 oxygen binding	TAS Traceable Author Statement more info	PubMed
enables retinoic acid 4-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in linoleic acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in organic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
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 xenobiotic metabolic process	IBA Inferred from Biological aspect of Ancestor more info
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 2C18

Names: (S)-mephenytoin hydroxylase associated cytochrome P450; CYPIIC18; cytochrome P450, family 2, subfamily C, polypeptide 18; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18; cytochrome P450-6B/29C; flavoprotein-linked monooxygenase; microsomal monooxygenase; unspecific monooxygenase

NP_000763.1

EC 1.14.14.1

NP_001122397.1

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_008373.1 RefSeqGene

Range

5236..57697

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000772.3 → NP_000763.1 cytochrome P450 2C18 isoform 1

See identical proteins and their annotated locations for NP_000763.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BX538127, M61853, M61856

Consensus CDS

CCDS7435.1

UniProtKB/Swiss-Prot

B2R8K2, P33260, Q16703, Q16751, Q4VAT5, Q6GRG1

UniProtKB/TrEMBL

Q53EX9

Related

ENSP00000285979.6, ENST00000285979.11

Conserved Domains (1) summary

pfam00067
Location:30 → 487

p450; Cytochrome P450
NM_001128925.2 → NP_001122397.1 cytochrome P450 2C18 isoform 2

See identical proteins and their annotated locations for NP_001122397.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a coding exon in the middle region, but the reading frame is not affected, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

BC096260, BJ993698, BX538127, M61853, M61856

Consensus CDS

CCDS44460.1

UniProtKB/TrEMBL

Q53EX9

Related

ENSP00000341293.5, ENST00000339022.6

Conserved Domains (1) summary

pfam00067
Location:30 → 428

p450; Cytochrome P450