Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
NFATC1 Activation 20723539
NFKB1 Unknown 19928584
RELA Unknown 19928584
STAT6 Activation 20723539
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
124040 2631 ENSG00000130649
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 493
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid hormone biosynthesis
Arachidonic acid metabolism
Linoleic acid metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Non-alcoholic fatty liver disease
Alcoholic liver disease
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - reactive oxygen species
  Xenobiotics
CYP2E1 reactions
Biosynthesis of maresin-like SPMs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- 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
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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