CYP2C18

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

Basic information

Region (hg38): 10:94683728-94736190

Previous symbols: [ "CYP2C17" ]

Links

ENSG00000108242 ∙ NCBI:1562 ∙ OMIM:601131 ∙ HGNC:2620 ∙ Uniprot:P33260 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYP2C18 gene.

• Inborn genetic diseases (18 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2C18 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	3	4
missense			17	1	3	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	6

Variants in CYP2C18

This is a list of pathogenic ClinVar variants found in the CYP2C18 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-94683950-A-T		not specified	Uncertain significance (Aug 22, 2023)
10-94687825-T-C		not specified	Uncertain significance (Jul 14, 2023)
10-94687878-G-A		not specified	Likely benign (Jan 02, 2024)
10-94687924-A-C		not specified	Uncertain significance (Apr 07, 2022)
10-94688217-G-A		not specified	Uncertain significance (Jan 10, 2022)
10-94688241-C-T		not specified	Uncertain significance (Mar 07, 2024)
10-94688258-G-T		not specified	Uncertain significance (Jun 22, 2021)
10-94694930-T-C			Benign (Jun 11, 2018)
10-94694992-G-A		not specified	Uncertain significance (Sep 01, 2021)
10-94695007-A-G		not specified	Uncertain significance (Dec 14, 2021)
10-94695027-A-C		not specified	Likely benign (Nov 20, 2023)
10-94695040-A-G		not specified	Uncertain significance (May 30, 2023)
10-94695062-C-T			Likely benign (Mar 01, 2022)
10-94706810-C-T			Benign (Aug 08, 2017)
10-94706846-A-C		not specified	Uncertain significance (Feb 28, 2023)
10-94706859-A-G		not specified	Likely benign (Dec 27, 2023)
10-94706863-A-G		not specified	Uncertain significance (Dec 05, 2022)
10-94706910-A-G		not specified	Uncertain significance (Nov 08, 2022)
10-94706937-T-C		not specified	Uncertain significance (May 11, 2022)
10-94720441-G-A		not specified	Uncertain significance (Mar 14, 2023)
10-94720458-G-A		not specified	Uncertain significance (Feb 06, 2024)
10-94720472-C-T			Benign (Aug 08, 2017)
10-94720484-G-A		not specified	Uncertain significance (Aug 15, 2023)
10-94724372-G-T			Benign (Aug 08, 2017)
10-94724444-G-A		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP2C18	protein_coding	protein_coding	ENST00000285979	9	52697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.34e-10	0.171	122462	83	3198	125743	0.0131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.760	300	265	1.13	0.0000132	3252
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0805	0.0808
Ashkenazi Jewish	0.00156	0.00149
East Asian	0.0638	0.0636
Finnish	0.00480	0.00472
European (Non-Finnish)	0.00439	0.00430
Middle Eastern	0.0638	0.0636
South Asian	0.00544	0.00537
Other	0.00887	0.00867

dbNSFP

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.
• Pathway: Retinol metabolism - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Warfarin Pathway, Pharmacokinetics;Oxidation by Cytochrome P450;Tryptophan metabolism;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;Xenobiotics;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;FOXA1 transcription factor network;Tryptophan degradation;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.248

Intolerance Scores

• loftool: 0.857
• rvis_EVS: 1.18
• rvis_percentile_EVS: 92.78

Haploinsufficiency Scores

• pHI: 0.0398
• hipred: N
• hipred_score: 0.131

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.381

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cyp2c55

Gene ontology

• Biological process: organic acid metabolic process;xenobiotic metabolic process;epoxygenase P450 pathway;exogenous drug catabolic process;oxidation-reduction process
• Cellular component: cytoplasm;endoplasmic reticulum membrane;organelle membrane;intracellular membrane-bounded organelle
• 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;oxygen binding;heme binding;aromatase activity