Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1571
Gene name	Cytochrome P450 family 2 subfamily E member 1
Gene symbol	CYP2E1
Synonyms (NCBI Gene)	CPE1CYP2EP450-JP450C2E
Chromosome	10
Chromosome location	10q26.3
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

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017817	hsa-miR-335-5p	Microarray	18185580
MIRT021813	hsa-miR-132-3p	Microarray	17612493
MIRT041622	hsa-miR-488-5p	CLASH	23622248
MIRT038008	hsa-miR-488-3p	CLASH	23622248

Show/Hide all (4)

Transcription factor	Regulation	Reference
NFATC1	Activation	20723539
NFKB1	Unknown	19928584
RELA	Unknown	19928584
STAT6	Activation	20723539

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	18577768
GO:0002933	Process	Lipid hydroxylation	IDA	10553002
GO:0004497	Function	Monooxygenase activity	IDA	10553002, 19651758
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004497	Function	Monooxygenase activity	TAS	3233219
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	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:0006805	Process	Xenobiotic metabolic process	IBA
GO:0006805	Process	Xenobiotic metabolic process	IDA	19219744
GO:0006805	Process	Xenobiotic metabolic process	IMP	18356043
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008392	Function	Arachidonate epoxygenase activity	IBA
GO:0009617	Process	Response to bacterium	IEA
GO:0016020	Component	Membrane	IEA
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	16401082, 19219744
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016709	Function	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	TAS	18818195
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	IEA
GO:0018601	Function	4-nitrophenol 2-monooxygenase activity	IDA	9348445
GO:0018885	Process	Carbon tetrachloride metabolic process	TAS
GO:0018910	Process	Benzene metabolic process	TAS
GO:0018960	Process	4-nitrophenol metabolic process	IDA	9348445
GO:0019373	Process	Epoxygenase P450 pathway	IBA
GO:0019825	Function	Oxygen binding	TAS	3233219
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	18818195
GO:0020037	Function	Heme binding	IEA
GO:0030544	Function	Hsp70 protein binding	ISS
GO:0042197	Process	Halogenated hydrocarbon metabolic process	TAS
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051879	Function	Hsp90 protein binding	ISS
GO:0120319	Function	Long-chain fatty acid omega-1 hydroxylase activity	IDA	18577768

MIM	HGNC	e!Ensembl
124040	2631	ENSG00000130649

P05181

Protein name

Cytochrome P450 2E1 (EC 1.14.14.1) (4-nitrophenol 2-hydroxylase) (EC 1.14.13.n7) (CYPIIE1) (Cytochrome P450-J)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of fatty acids (PubMed:10553002, PubMed:18577768). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with

PDB

3E4E , 3E6I , 3GPH , 3KOH , 3LC4 , 3T3Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	33 → 489	Cytochrome P450	Domain

Sequence

MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNLFQLELKNIPKSFTRL
AQRFGPVFTLYVGSQRMVVMHGYKAVKEALLDYKDEFSGRGDLPAFHAHRDRGIIFNNGP
TWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRKTQGQPFDPTFLIGCAPCNVI
ADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLYNNFPSFLHYLPGSHRKVIKNVA
EVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAERLYTMDGITVTVADLFFAG
TETTSTTLRYGLLILMKYPEIEEKLHEEIDRVIGPSRIPAIKDRQEMPYMDAVVHEIQRF
ITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYDNQEFPDPEKFKPEHFLNENGK
FKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHFNLKPLVDPKDIDLSPIHIGFGC
IPPRYKLCVIPRS

Sequence length

493

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs3813867, rs2031920	-
Clear cell carcinoma of kidney	Benign	rs28969387	RCV005913278
CYP2E1*6 ALLELE	association	rs6413432	RCV000018384
Nonpapillary renal cell carcinoma	Benign	rs28969387	RCV005913277
Uterine corpus endometrial carcinoma	Benign	rs28969387	RCV005913279

Show/Hide Text Mining Associations (96)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	12824892
Alcoholism	Associate	16425414, 18322963
Anemia Aplastic	Associate	10050706
Arthritis Rheumatoid	Associate	29287311
Autism Spectrum Disorder	Associate	31009952
Barrett Esophagus	Associate	10933049
Blast Injuries	Associate	31621494
Breast Neoplasms	Associate	18214058, 18423013, 24207099, 26925658, 28971320, 37308906
Carcinogenesis	Associate	10810125, 12068315, 17695473, 19805575, 20404016, 21869556, 22100631, 24207099, 27644662, 29436633, 40026294
Carcinoma Hepatocellular	Associate	12068315, 12495467, 18497573, 20404016, 22614694, 24278187, 25024626, 25654087, 27203676, 30653870, 30971588, 34861383, 35164791, 8977352
Carcinoma Non Small Cell Lung	Associate	23934444, 28033105
Carcinoma Squamous Cell	Associate	17264406, 17373732, 18322963, 23934444
Cerebral Palsy Ataxic Autosomal Recessive	Associate	19096130
Chemical and Drug Induced Liver Injury	Associate	16770646, 18769766, 20939108, 22012226, 26355945, 31697922
Colonic Diseases	Associate	17963298
Colorectal Neoplasms	Associate	17695473, 17963298, 22155602, 22228187, 22901167, 24394801, 26782431, 28018104, 39242607
Diabetes Gestational	Associate	31601636, 37264354
Diabetes Mellitus	Stimulate	12534643
Diabetes Mellitus Type 2	Stimulate	24207099
Diabetes Mellitus Type 2	Associate	29439084, 31601636
Drug Hypersensitivity Syndrome	Associate	35763063
Drug Related Side Effects and Adverse Reactions	Associate	10748080, 12235922, 14669323, 18497573, 21784317, 9169410
Dyskinesia Drug Induced	Associate	36494682
End Stage Liver Disease	Associate	25024626
Endometrial Hyperplasia	Associate	12068315
Esophageal Neoplasms	Associate	15968714, 19058336, 21672255
Esophageal Squamous Cell Carcinoma	Associate	17264406, 17373732, 18322963, 21672255, 31277149
Esophageal Squamous Cell Carcinoma	Inhibit	24504680
Fatty Liver	Associate	14606109, 18769766, 26497211, 35403271
Fatty Liver	Stimulate	26551085
Fatty Liver Alcoholic	Associate	14606109, 26551085
Fetal Alcohol Spectrum Disorders	Associate	37510297
Fibrosis	Associate	11471570, 25024626, 30653870
Gastrointestinal Neoplasms	Associate	24394801
Glioblastoma	Associate	23321599
Glioma	Associate	34612013
Head and Neck Neoplasms	Associate	19442564
Hearing Loss	Associate	31621494
Heart Defects Congenital	Associate	29449662
Hemolysis	Associate	29619129
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24207099
Hyperplasia	Associate	12068315
Inflammation	Associate	29619129
Insulin Like Growth Factor I Resistance To	Associate	16425414
Insulin Resistance	Associate	37264354
Intestinal Diseases	Associate	21869556
Isodicentric Chromosome 15 Syndrome	Associate	23066397
Laryngeal Neoplasms	Associate	25299224
Latent Tuberculosis	Associate	16770646
Leprosy	Associate	23077626
Leukemia	Associate	12055050, 21784317, 38019237
Leukemia Lymphocytic Chronic B Cell	Associate	20029944
Leukemia Myeloid Acute	Associate	16493615, 23066397
Leukoplakia	Associate	25104199
Leukoplakia Oral	Associate	25104199
Liver Cirrhosis	Associate	12068315
Liver Cirrhosis Alcoholic	Associate	11748356, 25024626
Liver Diseases	Associate	12534643, 20939108, 8977352
Liver Diseases Alcoholic	Associate	24816574
Liver Failure	Associate	18769766, 23099118
Lung Neoplasms	Associate	22761909, 23934444, 25422202, 27644662, 8096192, 9439147
Lupus Erythematosus Systemic	Associate	21281483
Lymphoma Non Hodgkin	Associate	19822571, 20029944, 21228414
Mouth Diseases	Associate	25104199
Mouth Neoplasms	Associate	11377232, 22100631
Nasopharyngeal Carcinoma	Associate	11389775, 19805575
Neoplasm Metastasis	Associate	24207099
Neoplasms	Associate	11377232, 11501173, 12068315, 15968714, 17264406, 17963298, 18214058, 20404016, 21869556, 22614694, 22957075, 23632049, 24207099, 24699256, 26725848 View all (7 more)
Neoplasms	Inhibit	30148168
Neoplasms Muscle Tissue	Associate	34385605
Neoplasms Squamous Cell	Associate	15968714, 21672255
Neurodegenerative Diseases	Associate	21360299
Non alcoholic Fatty Liver Disease	Associate	18769766, 20485142, 21602702, 26551085
Non alcoholic Fatty Liver Disease	Inhibit	19651758
Non alcoholic Fatty Liver Disease	Stimulate	26739624
Obesity	Associate	23175694, 24207099, 34638758
Obesity Metabolically Benign	Associate	34638758
Ovarian Diseases	Associate	32880385
Pancreatic Neoplasms	Associate	22614694, 29049217
Pancreatitis Chronic	Associate	16425414
Parkinson Disease	Associate	23321599
Precancerous Conditions	Associate	14669323, 21672255
Rectal Neoplasms	Associate	17963298
Schizophrenia	Associate	36494682
Spinocerebellar Ataxia 11	Associate	29619129
Squamous Cell Carcinoma of Head and Neck	Associate	19442564, 21940907, 23632049
Stomach Diseases	Associate	21869556
Stomach Neoplasms	Associate	11854903, 15793883, 22957075, 28002588, 31974627, 39395750
Tinnitus	Associate	31621494
Tooth Erosion	Associate	29287311
Tuberculosis	Associate	23099118
Urinary Bladder Neoplasms	Associate	15780023, 20675267
Uterine Cervical Neoplasms	Associate	35996502, 36037111
Ventricular Remodeling	Associate	29016726
Vulvar Diseases	Associate	36177509
Weight Loss	Inhibit	20485142

CYP2E1 (cytochrome P450 family 2 subfamily E member 1)