CYP2E1 (cytochrome P450 family 2 subfamily E member 1)

2003-06-01 Affiliation

Identity

HGNC

CYP2E1

LOCATION

10q26.3

LOCUSID

1571

ALIAS

CPE1,CYP2E,P450-J,P450C2E

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1571
MIM: 124040
HGNC: 2631
Ensembl: ENSG00000130649

Variants:

dbSNP: 1571
ClinVar: 1571
TCGA: ENSG00000130649
COSMIC: CYP2E1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000130649	ENST00000252945	P05181
ENSG00000130649	ENST00000418356	H0Y593
ENSG00000130649	ENST00000421586	H0Y7H4
ENSG00000130649	ENST00000463117	P05181
ENSG00000130649	ENST00000541080	H0YGV5
ENSG00000130649	ENST00000541261	F5H694

Expression (GTEx)

500

1000

1500

2000

2500

3000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Steroid hormone biosynthesis	KEGG	ko00140
Arachidonic acid metabolism	KEGG	ko00590
Linoleic acid metabolism	KEGG	ko00591
Metabolism of xenobiotics by cytochrome P450	KEGG	ko00980
Drug metabolism - cytochrome P450	KEGG	ko00982
Steroid hormone biosynthesis	KEGG	hsa00140
Arachidonic acid metabolism	KEGG	hsa00590
Linoleic acid metabolism	KEGG	hsa00591
Metabolism of xenobiotics by cytochrome P450	KEGG	hsa00980
Drug metabolism - cytochrome P450	KEGG	hsa00982
Metabolic pathways	KEGG	hsa01100
Chemical carcinogenesis	KEGG	hsa05204
Chemical carcinogenesis	KEGG	ko05204
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
Metabolism	REACTOME	R-HSA-1430728
Biological oxidations	REACTOME	R-HSA-211859
Phase 1 - Functionalization of compounds	REACTOME	R-HSA-211945
Cytochrome P450 - arranged by substrate type	REACTOME	R-HSA-211897
Xenobiotics	REACTOME	R-HSA-211981
CYP2E1 reactions	REACTOME	R-HSA-211999

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10075	esomeprazole	Chemical	LabelAnnotation	associated
PA164712708	Drugs For Treatment Of Tuberculosis	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	12668988, 16677176, 16770646, 18713495, 19761367, 19891553, 20819434, 20860460, 21753138, 22012226, 22335459, 22506592, 23394127, 23875638, 24637014, 28799976
PA164722867	MIR570	Gene	MultilinkAnnotation	associated			26199425
PA164749431	gemtuzumab ozogamicin	Chemical	ClinicalAnnotation	associated		PD	22584460
PA164749650	pyridoxal phosphate	Chemical	VariantAnnotation	associated		PD	16770646
PA164925725	Toxic liver disease	Disease	VariantAnnotation, VipGene	ambiguous		PD	16677176, 16770646, 18713495, 19761367, 24637014
PA165948032	CYP2E1*1A	Haplotype	VipGene	associated			18713495, 20860460, 3233219, 16770646
PA165948033	CYP2E1*1B	Haplotype	VipGene	associated
PA165948039	CYP2E1*5A	Haplotype	VipGene	associated			8096192, 1778977
PA165948040	CYP2E1*5B	Haplotype	VipGene	associated			8096192, 1778977
PA165948041	CYP2E1*6	Haplotype	VipGene	associated			16677176, 21261721, 22188361, 22335459, 22485222, 8096192, 12771559
PA166119041	drug-induced liver injury	Disease	VipGene	associated			19761367
PA166153990	rs2031920	Variant	VipGene	associated			8096192, 1778977
PA166153994	rs2070676	Variant	VipGene	associated
PA166154041	rs3813867	Variant	VipGene	associated			8096192, 1778977
PA166154073	rs6413432	Variant	VipGene	associated			16677176, 1778977, 21261721, 22188361, 22335459, 22485222, 8096192, 12771559
PA443309	Alcoholism	Disease	ClinicalAnnotation	associated		PD	15902904, 25514903, 29588096
PA443937	Drug Toxicity	Disease	VipGene	associated			19761367
PA444442	Hepatitis, Toxic	Disease	VariantAnnotation	not associated		PD	20860460
PA444760	Leukemia, Myeloid, Acute	Disease	ClinicalAnnotation	associated		PD	22584460
PA444802	Liver Diseases, Alcoholic	Disease	VariantAnnotation	associated	PK		8659683
PA445204	Ovarian Neoplasms	Disease	ClinicalAnnotation	associated		PD	22188361
PA445941	Tuberculosis	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	12668988, 16677176, 16770646, 18544910, 18713495, 19761367, 19891553, 20819434, 20860460, 21753138, 22012226, 22335459, 22506592, 23394127, 23875638, 24637014, 28799976
PA447216	Schizophrenia	Disease	ClinicalAnnotation	associated		PD
PA448015	acetaminophen	Chemical	Literature, MultilinkAnnotation, Pathway, VariantAnnotation, VipGene	associated	PK		11866476, 18695978, 19219744, 23462933, 26049587, 8659683, 9548799
PA448073	ethanol	Chemical	ClinicalAnnotation, Pathway	associated		PD	15902904, 25514903, 26049587, 29588096
PA449014	cisplatin	Chemical	ClinicalAnnotation	associated		PD	22188361
PA449165	cyclophosphamide	Chemical	ClinicalAnnotation	associated		PD	22188361
PA449177	cytarabine	Chemical	ClinicalAnnotation	associated		PD	22584460
PA449655	fludarabine	Chemical	ClinicalAnnotation	associated		PD	22584460
PA449961	idarubicin	Chemical	ClinicalAnnotation	associated		PD	22584460
PA450112	isoniazid	Chemical	Pathway, VariantAnnotation, VipGene	ambiguous	PK	PD	16677176, 16770646, 18544910, 18695978, 26049587
PA451182	pyrazinamide	Chemical	VariantAnnotation	not associated		PD	16677176
PA451250	rifampin	Chemical	VariantAnnotation	not associated	PK	PD	16677176, 18544910
PA451257	risperidone	Chemical	ClinicalAnnotation	associated		PD
PA451647	theophylline	Chemical	Pathway	associated
PA451954	zidovudine	Chemical	Pathway	associated			22960662

References

Pubmed ID	Year	Title	Citations
38479224	2024	ERRγ-inducible FGF23 promotes alcoholic liver injury through enhancing CYP2E1 mediated hepatic oxidative stress.	1
38479224	2024	ERRγ-inducible FGF23 promotes alcoholic liver injury through enhancing CYP2E1 mediated hepatic oxidative stress.	1
35943720	2023	Association between CYP2E1 C-1054T and 96-bp I/D genetic variations and the risk of polycystic ovary syndrome in Chinese women.	2
37175827	2023	Generation and Characterization of CYP2E1-Overexpressing HepG2 Cells to Study the Role of CYP2E1 in Hepatic Hypoxia-Reoxygenation Injury.	3
37264354	2023	CYP2E1 C-1054T and 96-bp I/D genetic variations and risk of gestational diabetes mellitus in chinese women: a case-control study.	1
37308906	2023	Influence of alcohol consumption and alcohol metabolism variants on breast cancer risk among Black women: results from the AMBER consortium.	0
37499993	2023	CYP2E1 triggered GRP78/ATF6/CHOP signaling axis inhibit apoptosis and promotes progression of hepatocellular carcinoma.	0
37510297	2023	ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.	1
37633951	2023	USP14 governs CYP2E1 to promote nonalcoholic fatty liver disease through deubiquitination and stabilization of HSP90AA1.	3
35943720	2023	Association between CYP2E1 C-1054T and 96-bp I/D genetic variations and the risk of polycystic ovary syndrome in Chinese women.	2
37175827	2023	Generation and Characterization of CYP2E1-Overexpressing HepG2 Cells to Study the Role of CYP2E1 in Hepatic Hypoxia-Reoxygenation Injury.	3
37264354	2023	CYP2E1 C-1054T and 96-bp I/D genetic variations and risk of gestational diabetes mellitus in chinese women: a case-control study.	1
37308906	2023	Influence of alcohol consumption and alcohol metabolism variants on breast cancer risk among Black women: results from the AMBER consortium.	0
37499993	2023	CYP2E1 triggered GRP78/ATF6/CHOP signaling axis inhibit apoptosis and promotes progression of hepatocellular carcinoma.	0
37510297	2023	ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.	1

Citation

Dessen P

CYP2E1 (cytochrome P450 family 2 subfamily E member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40248/cyp2e1-(cytochrome-p450-family-2-subfamily-e-member-1)