CYP4F12 (cytochrome P450 family 4 subfamily F member 12)

Gene

• Entrez ID: 66002
• Gene name: Cytochrome P450 family 4 subfamily F member 12
• Gene symbol: CYP4F12
• Synonyms (NCBI Gene): CYPIVF12, F22329_1
• 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 likel

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2386670	hsa-miR-2277-3p	CLIP-seq
MIRT2386671	hsa-miR-2467-3p	CLIP-seq
MIRT2386672	hsa-miR-4257	CLIP-seq
MIRT2386673	hsa-miR-4514	CLIP-seq
MIRT2386674	hsa-miR-4645-5p	CLIP-seq
MIRT2386675	hsa-miR-4673	CLIP-seq
MIRT2386676	hsa-miR-4692	CLIP-seq
MIRT2386677	hsa-miR-542-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR1I2	Unknown	19129222

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	ISS
GO:0001676	Process	Long-chain fatty acid metabolic process	ISS
GO:0003091	Process	Renal water homeostasis	ISS
GO:0003095	Process	Pressure natriuresis	ISS
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	28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	ISS
GO:0008392	Function	Arachidonate epoxygenase activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
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	ISS
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IEA
GO:0019369	Process	Arachidonate metabolic process	ISS
GO:0019373	Process	Epoxygenase P450 pathway	ISS
GO:0020037	Function	Heme binding	IEA
GO:0036101	Process	Leukotriene B4 catabolic process	ISS
GO:0042360	Process	Vitamin E metabolic process	ISS
GO:0042361	Process	Menaquinone catabolic process	IBA
GO:0042376	Process	Phylloquinone catabolic process	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050051	Function	Leukotriene-B4 20-monooxygenase activity	ISS
GO:0055078	Process	Sodium ion homeostasis	ISS

Other IDs

• MIM: 611485
• HGNC: 18857
• e!Ensembl: ENSG00000186204

Protein

• UniProt ID: Q9HCS2
• Protein name: Cytochrome P450 4F12 (EC 1.14.14.1) (CYPIVF12)
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with
• Family and domains:

  Pfam

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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in small intestine, liver, colon and heart. {ECO:0000269|PubMed:11162607, ECO:0000269|PubMed:11162645}.
• Sequence:

  MSLLSLPWLGLRPVATSPWLLLLLVVGSWLLARILAWTYAFYNNCRRLQCFPQPPKRNWF
  WGHLGLITPTEEGLKNSTQMSATYSQGFTVWLGPIIPFIVLCHPDTIRSITNASAAIAPK
  DNLFIRFLKPWLGEGILLSGGDKWSRHRRMLTPAFHFNILKSYITIFNKSANIMLDKWQH
  LASEGSSRLDMFEHISLMTLDSLQKCIFSFDSHCQERPSEYIATILELSALVEKRSQHIL
  QHMDFLYYLSHDGRRFHRACRLVHDFTDAVIRERRRTLPTQGIDDFFKDKAKSKTLDFID
  VLLLSKDEDGKALSDEDIRAEADTFMFGGHDTTASGLSWVLYNLARHPEYQERCRQEVQE
  LLKDRDPKEIEWDDLAQLPFLTMCVKESLRLHPPAPFISRCCTQDIVLPDGRVIPKGITC
  LIDIIGVHHNPTVWPDPEVYDPFRFDPENSKGRSPLAFIPFSAGPRNCIGQAFAMAEMKV
  VLALMLLHFRFLPDHTEPRRKLELIMRAEGGLWLRVEPLNVSLQ

• Sequence length: 524

Pathways

Reactome:

Fatty acids
Eicosanoids

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
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Hepatocellular	Associate	30280198	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Associate	26795600	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Associate	28487959	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Inhibit	32293332	★☆☆☆☆ Found in Text Mining only
Hemangioma Cavernous Central Nervous System	Associate	26795600	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	37414830	★☆☆☆☆ Found in Text Mining only
Personality Disorders	Associate	33450964	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	33450964, 37924098	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	37414830	★☆☆☆☆ Found in Text Mining only