CYP4F8

cytochrome P450 family 4 subfamily F member 8, the group of Cytochrome P450 family 4

Basic information

Region (hg38): 19:15615218-15630639

Links

ENSG00000186526 ∙ NCBI:11283 ∙ OMIM:611545 ∙ HGNC:2648 ∙ Uniprot:P98187 ∙ 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 CYP4F8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP4F8 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						0
missense			30	3		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in CYP4F8

This is a list of pathogenic ClinVar variants found in the CYP4F8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-15615621-C-T		not specified	Likely benign (Dec 19, 2023)
19-15615635-T-C		not specified	Uncertain significance (Jan 23, 2025)
19-15615647-C-T		not specified	Uncertain significance (Aug 20, 2024)
19-15615686-G-A		not specified	Uncertain significance (May 30, 2024)
19-15615689-G-T		not specified	Uncertain significance (Feb 27, 2023)
19-15615693-G-A		not specified	Uncertain significance (Oct 14, 2023)
19-15615725-T-A		not specified	Uncertain significance (Apr 07, 2023)
19-15615752-C-T		not specified	Uncertain significance (Aug 30, 2022)
19-15615753-G-A		not specified	Uncertain significance (Sep 08, 2024)
19-15615755-C-T		not specified	Uncertain significance (Apr 22, 2024)
19-15615762-G-A			Likely benign (Jan 01, 2023)
19-15615771-C-T		not specified	Uncertain significance (Jun 22, 2021)
19-15615780-G-A		not specified	Uncertain significance (Mar 18, 2024)
19-15615806-C-G		not specified	Uncertain significance (Dec 12, 2024)
19-15618052-A-G		not specified	Uncertain significance (Jun 12, 2023)
19-15618057-C-A		not specified	Uncertain significance (Oct 28, 2024)
19-15618061-G-T		not specified	Uncertain significance (Apr 17, 2023)
19-15618081-C-T		not specified	Uncertain significance (Feb 28, 2025)
19-15618090-C-T		not specified	Uncertain significance (Nov 15, 2024)
19-15618124-G-A		not specified	Uncertain significance (Jun 17, 2024)
19-15619541-T-C		not specified	Uncertain significance (Jul 11, 2023)
19-15619638-A-T		not specified	Uncertain significance (Oct 03, 2022)
19-15619640-G-T		not specified	Uncertain significance (May 30, 2024)
19-15619659-G-A		not specified	Uncertain significance (May 20, 2024)
19-15619671-G-T		not specified	Uncertain significance (Jan 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hydroxylates arachidonic acid (20:4n-6) to (18R)- hydroxyarachidonate. Shows little activity against prostaglandin (PG) D2, PGE1, PGE2, PGF2alpha, and leukotriene B4. Catalyzes omega-2 and omega-3-hydroxylation of PGH1 and PGH2. Catalyzes epoxidation of 4,7,10,13,16,19-(Z)-docosahexaenoic acid (22:6n-3) and 7,10,13,16,19-(Z)-docosapentaenoic acid (22:5n-3) and omega-3- hydroxylation of 4,7,10,13,16-(Z)-docosapentaenoic acid (22:5n-6). Catalyzes hydroxylation of PGI2 and carbaprostacyclin. {ECO:0000269|PubMed:10791960, ECO:0000269|PubMed:15789615, ECO:0000269|PubMed:16112640}.
• Pathway: Arachidonic acid metabolism - Homo sapiens (human);Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Oxidation by Cytochrome P450;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;Metabolism of lipids;Synthesis of Leukotrienes (LT) and Eoxins (EX);Arachidonic acid metabolism;Tyrosine metabolism;Fatty acids;Eicosanoids;Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Fatty acid metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.139

Haploinsufficiency Scores

• pHI: 0.354

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.552

Mouse Genome Informatics

• Gene name: Cyp4f15

Gene ontology

• Biological process: icosanoid metabolic process;prostaglandin metabolic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane;organelle membrane
• Molecular function: monooxygenase activity;iron ion binding;alkane 1-monooxygenase activity;heme binding;aromatase activity