Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8529
Gene name	Cytochrome P450 family 4 subfamily F member 2
Gene symbol	CYP4F2
Synonyms (NCBI Gene)	CPF2
Chromosome	19
Chromosome location	19p13.12
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 local

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2108622	C>G,T	Drug-response	Coding sequence variant, missense variant
rs3093221	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments
MIRT921678	hsa-miR-3619-3p	CLIP-seq
MIRT921679	hsa-miR-362-5p	CLIP-seq
MIRT921680	hsa-miR-4776-5p	CLIP-seq
MIRT921681	hsa-miR-500b	CLIP-seq
MIRT921682	hsa-miR-501-5p	CLIP-seq
MIRT2208707	hsa-miR-1224-3p	CLIP-seq
MIRT2208708	hsa-miR-1260	CLIP-seq
MIRT2208709	hsa-miR-1260b	CLIP-seq
MIRT2208710	hsa-miR-1280	CLIP-seq
MIRT2208711	hsa-miR-1910	CLIP-seq
MIRT2208712	hsa-miR-4264	CLIP-seq
MIRT2208713	hsa-miR-4286	CLIP-seq
MIRT2208714	hsa-miR-4318	CLIP-seq
MIRT2208715	hsa-miR-455-3p	CLIP-seq
MIRT2512502	hsa-miR-3690	CLIP-seq
MIRT2512503	hsa-miR-4520a-3p	CLIP-seq
MIRT2512504	hsa-miR-4638-3p	CLIP-seq
MIRT2512505	hsa-miR-490-3p	CLIP-seq
MIRT2512506	hsa-miR-619	CLIP-seq

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IDA	18433732
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	18433732
GO:0003091	Process	Renal water homeostasis	IEP	10660572
GO:0003095	Process	Pressure natriuresis	IEP	10660572
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004497	Function	Monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 25910212, 32296183
GO:0005737	Component	Cytoplasm	IDA	10660572
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	20861217
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006690	Process	Icosanoid metabolic process	TAS
GO:0006691	Process	Leukotriene metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IMP	21084764, 21127708
GO:0007596	Process	Blood coagulation	TAS	19297519, 24138531
GO:0008217	Process	Regulation of blood pressure	IMP	18391101
GO:0008392	Function	Arachidonate epoxygenase activity	IDA	9618440, 20861217
GO:0010430	Process	Fatty acid omega-oxidation	IDA	18577768
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	10660572
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016709	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IDA	19297519, 24138531
GO:0016712	Function	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	IEA
GO:0018685	Function	Alkane 1-monooxygenase activity	IDA	18433732
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IDA	10660572
GO:0019369	Process	Arachidonate metabolic process	IEA
GO:0019373	Process	Epoxygenase P450 pathway	IDA	9618440, 20861217
GO:0020037	Function	Heme binding	IEA
GO:0032304	Process	Negative regulation of icosanoid secretion	IMP	18391101
GO:0032305	Process	Positive regulation of icosanoid secretion	IMP	17341693
GO:0036101	Process	Leukotriene B4 catabolic process	IDA	8026587, 9799565, 10492403
GO:0042360	Process	Vitamin E metabolic process	IDA	20861217
GO:0042361	Process	Menaquinone catabolic process	IBA
GO:0042361	Process	Menaquinone catabolic process	IDA	24138531
GO:0042376	Process	Phylloquinone catabolic process	IBA
GO:0042376	Process	Phylloquinone catabolic process	IDA	24138531
GO:0042376	Process	Phylloquinone catabolic process	IEA
GO:0042377	Process	Vitamin K catabolic process	IDA	19297519, 24138531
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9618440, 9799565, 10660572, 20861217, 24138531
GO:0046872	Function	Metal ion binding	IEA
GO:0050051	Function	Leukotriene-B4 20-monooxygenase activity	IDA	8026587, 9799565
GO:0050051	Function	Leukotriene-B4 20-monooxygenase activity	IEA
GO:0050051	Function	Leukotriene-B4 20-monooxygenase activity	TAS
GO:0052869	Function	Arachidonate omega-hydroxylase activity	IDA	9618440, 10660572
GO:0052869	Function	Arachidonate omega-hydroxylase activity	IEA
GO:0052871	Function	Alpha-tocopherol omega-hydroxylase activity	IDA	20861217
GO:0052871	Function	Alpha-tocopherol omega-hydroxylase activity	IEA
GO:0055078	Process	Sodium ion homeostasis	IEP	10660572
GO:0097258	Function	20-hydroxy-leukotriene B4 omega oxidase activity	TAS
GO:0097259	Function	20-aldehyde-leukotriene B4 20-monooxygenase activity	TAS
GO:0097267	Process	Omega-hydroxylase P450 pathway	IDA	9799565
GO:0097267	Process	Omega-hydroxylase P450 pathway	TAS
GO:0102033	Function	Long-chain fatty acid omega-hydroxylase activity	IDA	15145985, 18577768

MIM	HGNC	e!Ensembl
604426	2645	ENSG00000186115

P78329

Protein name

Cytochrome P450 4F2 (EC 1.14.14.1) (20-hydroxyeicosatetraenoic acid synthase) (20-HETE synthase) (Arachidonic acid omega-hydroxylase) (CYPIVF2) (Cytochrome P450-LTB-omega) (Docosahexaenoic acid omega-hydroxylase) (EC 1.14.14.79) (Leukotriene-B(4) 20-monoo

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, eicosanoids and vitamins (PubMed:10660572, PubMed:10833273, PubMed:11997390, PubMed:17341693, PubMed:18574070, PubMed:18577768).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	52 → 515	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver. Also present in kidney: specifically expressed in the S2 and S3 segments of proximal tubules in cortex and outer medulla (PubMed:10660572). {ECO:0000269|PubMed:10492403, ECO:0000269|PubMed:10660572}.

Sequence

MSQLSLSWLGLWPVAASPWLLLLLVGASWLLAHVLAWTYAFYDNCRRLRCFPQPPRRNWF
WGHQGMVNPTEEGMRVLTQLVATYPQGFKVWMGPISPLLSLCHPDIIRSVINASAAIAPK
DKFFYSFLEPWLGDGLLLSAGDKWSRHRRMLTPAFHFNILKPYMKIFNESVNIMHAKWQL
LASEGSACLDMFEHISLMTLDSLQKCVFSFDSHCQEKPSEYIAAILELSALVSKRHHEIL
LHIDFLYYLTPDGQRFRRACRLVHDFTDAVIQERRRTLPSQGVDDFLQAKAKSKTLDFID
VLLLSKDEDGKKLSDEDIRAEADTFMFEGHDTTASGLSWVLYHLAKHPEYQERCRQEVQE
LLKDREPKEIEWDDLAHLPFLTMCMKESLRLHPPVPVISRHVTQDIVLPDGRVIPKGIIC
LISVFGTHHNPAVWPDPEVYDPFRFDPENIKERSPLAFIPFSAGPRNCIGQTFAMAEMKV
VLALTLLRFRVLPDHTEPRRKPELVLRAEGGLWLRVEPLS

Sequence length

520

Interactions

View interactions

	KEGG		Reactome
	Arachidonic acid metabolism Metabolic pathways		Fatty acids Miscellaneous substrates Eicosanoids Synthesis of Leukotrienes (LT) and Eoxins (EX) Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
acenocoumarol response - Dosage	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP4F2-related disorder	drug response; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
warfarin response - Dosage	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	28073588	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Associate	27425035	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Associate	29776386, 30371151	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	30280198, 36199423	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	32350633	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Inhibit	32350633	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Associate	37653796	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Associate	32698322	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Associate	20130494, 24090469, 25730002, 26959478, 31510945, 37653796	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Associate	36199423	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Associate	29484037, 32481463, 37587376	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Associate	24886380, 33031748	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Associate	21187935	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Plaque	Associate	32698322	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	31652446	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Associate	32698322	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Associate	30732170	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Associate	30356105, 35172619, 37653796	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	18235092, 37653796	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy Metachromatic	Associate	24896259	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	32350633	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	32666702, 34577897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Associate	21127708	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Associate	32698322	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	20435227	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms Squamous Cell	Associate	32350633	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Associate	27593608	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	22798501	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Associate	32295578	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Associate	36634101	★★★★★ ★☆☆☆☆ Found in Text Mining only
ST Elevation Myocardial Infarction	Associate	35172619	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Associate	20130494, 24090469	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Associate	24858991, 27061505	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP4F2 (cytochrome P450 family 4 subfamily F member 2)