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

Gene ID: 1562, updated on 10-Dec-2024

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
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Genomic context

See CYP2C18 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96305226-96305850 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96305851-96306474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96335135-96335636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96335637-96336136 Neighboring gene helicase, lymphoid specific Neighboring gene MPRA-validated peak1052 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr10:96386128-96386629 Neighboring gene CTBP2 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 9306 Neighboring gene CYP2C19 promoter Neighboring gene MT-ND4 pseudogene 19 Neighboring gene cytochrome P450 family 2 subfamily C member 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96590143-96590741 Neighboring gene cytochrome P450 family 2 subfamily C member 58, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study of acenocoumarol maintenance dosage.
EBI GWAS Catalog
Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy.
EBI GWAS Catalog
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp686I24235

Gene Ontology Provided by GOA

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

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
NP_001122397.1

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_008373.1 RefSeqGene

    Range
    5236..57697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000772.3NP_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:30487
    p450; Cytochrome P450
  2. NM_001128925.2NP_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:30428
    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
    94683729..94736190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    95562854..95615317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)