CYP2E1 (cytochrome P450 family 2 subfamily E member 1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1571
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 2 subfamily E member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP2E1
Synonyms (NCBI Gene) Gene synonyms aliases
CPE1, CYP2E, P450-J, P450C2E
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
NFATC1 Activation 20723539
NFKB1 Unknown 19928584
RELA Unknown 19928584
STAT6 Activation 20723539
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
124040 2631 ENSG00000130649
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (96)
Associations from Text Mining Disease 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