CYP2F1 cytochrome P450 family 2 subfamily F member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2F1provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily F member 1provided by HGNC
Primary source: HGNC:HGNC:2632
See related: Ensembl:ENSG00000197446 MIM:124070; AllianceGenome:HGNC:2632
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C2F1; CYP2F; CYPIIF1
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 localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (41114432..41128381)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43935308..43949263)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41620337..41634286)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Polymorphism of cytochrome P-4502E1 (CYP2E1) genotype is an important criterion for the development of hepatotoxicity before and during TB treatment.
Title: Association between effectiveness of tuberculosis treatment and cytochrome P-4502E1 polymorphism of the patients.
Tissue distribution of transgenic mRNA expression agrees well with the known respiratory tract-selective expression of CYP2A13 and CYP2F1 and hepatic expression of CYP2B6 in humans.
Title: Generation and characterization of a CYP2A13/2B6/2F1-transgenic mouse model.
Patients with occupational chronic bronchitis and healthy workers significantly differed from each other in the frequency distribution of the genotypes ofthe CYP2F1 (rs11399890, c.14_15insC
Title: [Polymorphic markers of the CYP1B1 (4326C > G), CYP2F1 (c.14_15insC), CYP2J2 (-76G > T), and CYP2S1 (13106C > T and 13255A > G) genes and genetic predisposition to chronic respiratory diseases induced by smoking and occupational factors].
Association analysis of CYP2F1 gene insertion variant with chronic obstructive pulmonary disease have shown high frequency (87.5%) of normal allele in Tatars patients with very severe stage and manifestation of chronic obstructive pulmonary disease.
Title: [The CYP1B1 and CYP2F1 genes polymorphisms frequency in three ethnic groups of Bashkortostan and chronic obstructive pulmonary disease patients].
A lot of genetic polymorphism of CYP2F1 gene is found in Guangdong population of China, however, no single genetic polymorphism associated with the individual susceptibility to nasopharyngeal carcinoma can be identified.
Title: [Study on genetic polymorphisms of CYP2F1 gene in Guangdong population of China].
Observational study of genotype prevalence. (HuGE Navigator)
Title: CYP2F1 genetic polymorphism: identification of interethnic variations.
Observational study of gene-disease association. (HuGE Navigator)
Title: [The CYP1B1 and CYP2F1 genes polymorphisms frequency in three ethnic groups of Bashkortostan and chronic obstructive pulmonary disease patients].
a novel LSF(lung-specific factor) and its consensus sequence that may control tissue-specific expression of CYP2F1.
Title: Characterization of the human lung CYP2F1 gene and identification of a novel lung-specific binding motif.
24 novel mutations distributed in the promoter region of the gene, as well as in the coding regions and their flanking intronic sequences;the CYP2F1 genetic polymorphism has no implications in the pathogenesis of lung cancer
Title: Molecular analysis of the CYP2F1 gene: identification of a frequent non-functional allelic variant.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482388

NoName (e-PCR)
- UniSTS:486503

SHGC-132734 (e-PCR)
- UniSTS:170864

NoName (e-PCR)
- UniSTS:481142

D19S986 (e-PCR)
- UniSTS:30889

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arachidonate epoxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	TAS Traceable Author Statement more info
enables 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 Inferred from Biological aspect of Ancestor more info
enables 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 Inferred from Direct Assay more info	PubMed
enables oxygen binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in epoxygenase P450 pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in naphthalene catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome P450 2F1

Names: cytochrome P450, family 2, subfamily F, polypeptide 1; cytochrome P450, subfamily IIF, polypeptide 1; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase

NP_000765.2

EC 1.14.14.1

XP_047294236.1

EC 1.14.14.1

XP_047294237.1

EC 1.14.14.1

XP_047294238.1

EC 1.14.14.1

XP_054175991.1

EC 1.14.14.1

XP_054175992.1

EC 1.14.14.1

XP_054175993.1

EC 1.14.14.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007930.1 RefSeqGene

Range

4985..18934

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000774.5 → NP_000765.2 cytochrome P450 2F1

See identical proteins and their annotated locations for NP_000765.2

Status: REVIEWED

Source sequence(s)

BC109057, CB853363, DC413790

Consensus CDS

CCDS12572.1

UniProtKB/Swiss-Prot

A7KAU6, A7KAU7, A7KAU8, A7KAU9, A7KAV0, P24903, Q32MN5, Q8WWJ2

Related

ENSP00000333534.2, ENST00000331105.7

Conserved Domains (1) summary

pfam00067
Location:31 → 488

p450; Cytochrome P450

RNA

NR_135528.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC008962, AK316498, CB853363

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

41114432..41128381

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438280.1 → XP_047294236.1 cytochrome P450 2F1 isoform X1
XM_047438281.1 → XP_047294237.1 cytochrome P450 2F1 isoform X2

UniProtKB/TrEMBL

B4DNV7
XM_047438282.1 → XP_047294238.1 cytochrome P450 2F1 isoform X3

UniProtKB/TrEMBL

B4DNV7

Related

ENSP00000471416.1, ENST00000532164.2

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

43935308..43949263

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320016.1 → XP_054175991.1 cytochrome P450 2F1 isoform X1
XM_054320017.1 → XP_054175992.1 cytochrome P450 2F1 isoform X2

UniProtKB/TrEMBL

B4DNV7
XM_054320018.1 → XP_054175993.1 cytochrome P450 2F1 isoform X3

UniProtKB/TrEMBL

B4DNV7