CYP2C18

protein-coding

cytochrome P450 family 2 subfamily C member 18, the group of Cytochrome P450 family 2

Gene 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]

Previous symbols:

CYP2C17

MANE transcript

NM_000772.3

Inheritance

—

ClinVar variants

U:69B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr10:94,683,729-94,736,190

External References & Databases

Ensembl (ENSG00000108242)

Transcript & Mutation Effects

hg38 • Region Span ~52.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CYP2C18 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 73

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000772.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar	3 clinvar	5
missense			67 clinvar	8 clinvar	3 clinvar	78
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	9	6	84

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000772.3	RefSeq	NP_000763.1	9	MANE Select
ENST00000285979.11	Ensembl	ENSP00000285979.6	9	MANE Select
NM_001128925.2	RefSeq	NP_001122397.1	8	Standard
ENST00000339022.6	Ensembl	ENSP00000341293.5	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Retinol metabolism - Homo sapiens (human)
Serotonergic synapse - Homo sapiens (human)
Chemical carcinogenesis - Homo sapiens (human)
Warfarin Pathway, Pharmacokinetics
Oxidation by Cytochrome P450

Biological Process

organic acid metabolic process
xenobiotic metabolic process
epoxygenase P450 pathway
exogenous drug catabolic process
oxidation-reduction process

Molecular Function

monooxygenase activity
iron ion binding
arachidonic acid epoxygenase activity
steroid hydroxylase activity
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

Cellular Component

cytoplasm
endoplasmic reticulum membrane
organelle membrane
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000285979
Coding exons: 9
Length: 52697
Individuals with no LoFs: 122462
Homozygous LoFs: 83
Heterozygous LoFs: 3198
Defined: 125743
p: 0.0131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.760	300	265	1.13	0.0000132	3252
Missense (PolyPhen)		91	81.097	1.1221		1071
Synonymous	-1.76	117	95.2	1.23	0.00000449	921
Loss of Function	0.534	16	18.5	0.866	8.42e-7	245

Population LoF Frequency

Population	CAF	p-value	Status
African	0.077	0.077	notable
Latino/Admixed American	0.0035	0.0034	notable
Ashkenazi Jewish	0.0016	0.0015	notable
East Asian	0.064	0.064	notable
Finnish	0.0048	0.0047	notable
European (Non-Finnish)	0.0044	0.0043	notable
South Asian	0.0054	0.0054	notable
Other	0.0089	0.0087	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.;

Recessive Scores

pRec: 0.248

Intolerance Scores

LoFtool: 0.857
RVIS EVS: 1.18
RVIS percentile EVS: 92.78

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.381

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium