CYP4F2 (cytochrome P450 family 4 subfamily F member 2)

Gene

• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 604426
• HGNC: 2645
• e!Ensembl: ENSG00000186115

Protein

• UniProt ID: 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

Pathways

KEGG:

Arachidonic acid metabolism
Metabolic pathways

Reactome:

Fatty acids
Miscellaneous substrates
Eicosanoids
Synthesis of Leukotrienes (LT) and Eoxins (EX)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28073588		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	28073588	Associate	★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	27425035		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	27425035	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31694408		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31694408		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29273767, 29776386		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	29776386, 30371151	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30280198, 36199423	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21625857		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37653796	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32698322	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	18787519		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	LHGDN	18787519		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	20130494, 24090469, 25730002, 26959478, 31510945, 37653796	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	18574070		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20130494, 21625857, 24090469, 24984178, 25734770		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	29426278		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36199423	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24886380		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24886380, 29426278, 29484037		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29484037, 32481463, 37587376	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	24886380, 33031748	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24886380		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21187935		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21187935	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31652446	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	18971550		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32698322	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	30732170	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	30356105, 35172619, 37653796	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	17142457		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18235092, 37653796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	18235092, 18574070, 19279555, 19483747, 21625857, 22484021, 23584425, 24984178, 26634476, 29426278, 31514409		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	18235092, 18971550		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	18574070, 20130494, 20227456, 21625857, 25730002, 25734770, 26959478, 29273767, 31510945		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	24896259	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16077914, 30280198		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32350633	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32666702, 34577897	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22484021		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22484021, 27010496		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19097922		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	19097922		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	21127708	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	32698322	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30280198		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	24759732		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27593608		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27593608	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22798501	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23846787		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	23846787		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32295578	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	36634101	Associate	★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	31694408		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20130494, 24090469	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	24858991, 27061505	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	15191401		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	24668751		★☆☆☆☆ Found in Text Mining only