CYP2E1

cytochrome P450 family 2 subfamily E member 1, the group of Cytochrome P450 family 2

Basic information

Region (hg38): 10:133520405-133561220

Previous symbols: [ "CYP2E" ]

Links

ENSG00000130649 ∙ NCBI:1571 ∙ OMIM:124040 ∙ HGNC:2631 ∙ Uniprot:P05181 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYP2E1 gene.

• Inborn genetic diseases (16 variants)
• not provided (10 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2E1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	5	6
missense			14	4	1	19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	14	5	8

Variants in CYP2E1

This is a list of pathogenic ClinVar variants found in the CYP2E1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-133526101-G-C		-	no classification for the single variant (-)
10-133526341-C-T		-	no classification for the single variant (-)
10-133527444-C-T		not specified	Uncertain significance (Oct 03, 2022)
10-133527522-G-A		not specified	Uncertain significance (Sep 21, 2023)
10-133527531-T-C		not specified	Likely benign (Sep 14, 2022)
10-133527550-A-G		not specified	Uncertain significance (Mar 01, 2024)
10-133528490-C-G		not specified	Uncertain significance (Jan 06, 2023)
10-133528535-G-A		not specified	Uncertain significance (Aug 30, 2021)
10-133528597-G-A			Benign (Jul 16, 2018)
10-133528613-C-T		not specified	Uncertain significance (Dec 15, 2022)
10-133528614-C-T		not specified	Uncertain significance (Nov 21, 2022)
10-133531708-T-G		not specified	Uncertain significance (Jan 10, 2023)
10-133532129-C-G		not specified	Uncertain significance (Dec 14, 2022)
10-133532248-T-C			Benign (Dec 31, 2019)
10-133532260-C-T			Likely benign (Jun 23, 2018)
10-133532273-C-T		not specified	Uncertain significance (Dec 01, 2022)
10-133532698-A-G			Likely benign (May 14, 2018)
10-133532770-A-G		not specified	Uncertain significance (Jul 12, 2023)
10-133532777-A-G		not specified	Uncertain significance (Jan 03, 2024)
10-133532822-A-G		not specified	Likely benign (Jul 20, 2021)
10-133532831-G-A		not specified	Uncertain significance (Feb 14, 2023)
10-133533775-G-A		not specified	Uncertain significance (Aug 16, 2022)
10-133533801-G-A		not specified	Uncertain significance (Jun 24, 2022)
10-133533839-C-A			Benign (Jun 13, 2018)
10-133533893-C-C		not specified	Benign (Mar 28, 2016)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP2E1	protein_coding	protein_coding	ENST00000463117	9	40815

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.07e-9	0.480	125681	0	66	125747	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.878	254	297	0.857	0.0000170	3254
Missense in Polyphen		98	121.01	0.80984		1359
Synonymous	-0.119	125	123	1.01	0.00000762	953
Loss of Function	1.00	15	19.8	0.757	0.00000101	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000338	0.000338
Ashkenazi Jewish	0.00	0.00
East Asian	0.000655	0.000653
Finnish	0.000142	0.000139
European (Non-Finnish)	0.000359	0.000352
Middle Eastern	0.000655	0.000653
South Asian	0.0000764	0.0000653
Other	0.000179	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms.
• Pathway: Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Steroid hormone biosynthesis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Linoleic acid metabolism - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Carbamazepine Pathway, Pharmacokinetics;Phenytoin Pathway, Pharmacokinetics;Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics;Caffeine Pathway, Pharmacokinetics;Theophylline Pathway, Pharmacokinetics;Pathway_PA165986194 -need delete;Acetaminophen Pathway, Pharmacokinetics;Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Disulfiram Action Pathway;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Felbamate Metabolism Pathway;Ethanol Degradation;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Acetaminophen Metabolism Pathway;Caffeine Metabolism;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Folate-Alcohol and Cancer Pathway Hypotheses;Fatty Acid Omega Oxidation;Felbamate Metabolism;Nuclear Receptors in Lipid Metabolism and Toxicity;Gut-Liver Indole Metabolism;Metabolism of Dichloroethylene by CYP450;Benzene metabolism;Ethanol effects on histone modifications;Acrylamide Biotransformation and Exposure Biomarkers;Oxidation by Cytochrome P450;Tryptophan metabolism;Tamoxifen metabolism;Metapathway biotransformation Phase I and II;Vitamin A and Carotenoid Metabolism;mechanism of acetaminophen activity and toxicity;Phase I - Functionalization of compounds;Metabolism of lipids;acetone degradation I (to methylglyoxal);Xenobiotics;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;oxidative ethanol degradation III;Biosynthesis of maresin-like SPMs;Biosynthesis of maresins;Biosynthesis of DHA-derived SPMs;Biosynthesis of specialized proresolving mediators (SPMs);Fatty acid metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;CYP2E1 reactions;methylglyoxal degradation III;Arachidonic acid metabolism (Consensus)

Intolerance Scores

• loftool: 0.555
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.42

Haploinsufficiency Scores

• pHI: 0.634
• hipred: Y
• hipred_score: 0.663
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.777

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cyp2e1
• Phenotype: homeostasis/metabolism phenotype; neoplasm; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: organic acid metabolic process;triglyceride metabolic process;xenobiotic metabolic process;steroid metabolic process;response to bacterium;response to ozone;response to organonitrogen compound;monoterpenoid metabolic process;drug metabolic process;carbon tetrachloride metabolic process;benzene metabolic process;epoxygenase P450 pathway;halogenated hydrocarbon metabolic process;exogenous drug catabolic process;long-chain fatty acid biosynthetic process;response to ethanol;heterocycle metabolic process;oxidation-reduction process
• Cellular component: Golgi membrane;cytoplasm;mitochondrion;endoplasmic reticulum membrane;intrinsic component of endoplasmic reticulum membrane;intracellular membrane-bounded organelle
• Molecular function: monooxygenase activity;iron ion binding;arachidonic acid epoxygenase activity;steroid hydroxylase activity;oxidoreductase activity;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;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;oxygen binding;enzyme binding;heme binding