CYP2F1 (cytochrome P450 family 2 subfamily F member 1)

Gene

• Entrez ID: 1572
• Gene name: Cytochrome P450 family 2 subfamily F member 1
• Gene symbol: CYP2F1
• Synonyms (NCBI Gene): C2F1, CYP2F, CYPIIF1
• Chromosome: 19
• Chromosome location: 19q13.2
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017971	hsa-miR-335-5p	Microarray	18185580
MIRT029482	hsa-miR-26b-5p	Microarray	19088304

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	15860659
SP3	Unknown	15860659

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004497	Function	Monooxygenase activity	TAS	1974816
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	IBA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008392	Function	Arachidonate epoxygenase activity	IBA
GO:0009636	Process	Response to toxic substance	IEA
GO:0016020	Component	Membrane	IEA
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	IBA
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	IDA	10383923
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:0019373	Process	Epoxygenase P450 pathway	IBA
GO:0019825	Function	Oxygen binding	IEA
GO:0019825	Function	Oxygen binding	TAS	1974816
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	10383923
GO:0046872	Function	Metal ion binding	IEA
GO:1901170	Process	Naphthalene catabolic process	IDA	10383923
GO:1901170	Process	Naphthalene catabolic process	IEA

Other IDs

• MIM: 124070
• HGNC: 2632
• e!Ensembl: ENSG00000197446

Protein

• UniProt ID: P24903
• Protein name: Cytochrome P450 2F1 (EC 1.14.14.1) (CYPIIF1)
• Protein function: May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	31 → 488	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung. Rarely detected in liver and placenta. {ECO:0000269|PubMed:1974816, ECO:0000269|PubMed:8619884}.
• Sequence:

  MDSISTAILLLLLALVCLLLTLSSRDKGKLPPGPRPLSILGNLLLLCSQDMLTSLTKLSK
  EYGSMYTVHLGPRRVVVLSGYQAVKEALVDQGEEFSGRGDYPAFFNFTKGNGIAFSSGDR
  WKVLRQFSIQILRNFGMGKRSIEERILEEGSFLLAELRKTEGEPFDPTFVLSRSVSNIIC
  SVLFGSRFDYDDERLLTIIRLINDNFQIMSSPWGELYDIFPSLLDWVPGPHQRIFQNFKC
  LRDLIAHSVHDHQASLDPRSPRDFIQCFLTKMAEEKEDPLSHFHMDTLLMTTHNLLFGGT
  KTVSTTLHHAFLALMKYPKVQARVQEEIDLVVGRARLPALKDRAAMPYTDAVIHEVQRFA
  DIIPMNLPHRVTRDTAFRGFLIPKGTDVITLLNTVHYDPSQFLTPQEFNPEHFLDANQSF
  KKSPAFMPFSAGRRLCLGESLARMELFLYLTAILQSFSLQPLGAPEDIDLTPLSSGLGNL
  PRPFQLCLRPR

• Sequence length: 491

Pathways

KEGG:

Metabolism of xenobiotics by cytochrome P450
Chemical carcinogenesis - reactive oxygen species

Reactome:

Fatty acids
Xenobiotics
CYP2E1 reactions

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Hyperglycemia	Inhibit	36930661	★☆☆☆☆ Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	29983511	★☆☆☆☆ Found in Text Mining only