CYP4F8

protein-coding

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

Gene summary

This gene, CYP4F8, 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 and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]

MANE transcript

NM_007253.4

Inheritance

—

ClinVar variants

U:53B:6

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr19:15,615,218-15,630,639

External References & Databases

Ensembl (ENSG00000186526)

Transcript & Mutation Effects

hg38 • Region Span ~15.4 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 CYP4F8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 56

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007253.4. 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						0
missense			52 clinvar	6 clinvar		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	53	6	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007253.4	RefSeq	NP_009184.1	12	MANE Select
ENST00000612078.5	Ensembl	ENSP00000477567.1	12	MANE Select
ENST00000325723.10	Ensembl	ENSP00000479430.1	2	Standard
ENST00000589722.2	Ensembl	ENSP00000482692.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Arachidonic acid metabolism - Homo sapiens (human)
Etodolac Action Pathway
Ketoprofen Action Pathway
Ibuprofen Action Pathway
Rofecoxib Action Pathway

Biological Process

icosanoid metabolic process
prostaglandin metabolic process
oxidation-reduction process

Molecular Function

monooxygenase activity
iron ion binding
alkane 1-monooxygenase activity
heme binding
aromatase activity

Cellular Component

endoplasmic reticulum membrane
integral component of membrane
organelle membrane

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.139

Essentials

Indispensability pred.: E
Indispensability score: 0.552