CYP2E1 (cytochrome P450 family 2 subfamily E member 1)

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
miRNA miRNA information provided by mirtarbase database.
4
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 Transcription factors information provided by TRRUST V2 database.
4
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
Gene SNPs Transcription factors Other IDs Associated diseases
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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.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
124040 2631 ENSG00000130649
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (25)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (277)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 12540498
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11774269, 14510941, 14991750, 17339179
★★★★★
★☆☆☆☆
Found in Text Mining only
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 20843640
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 16142352
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 9029171, 9066584, 9809991
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12824892, 16142352, 25336053
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 16142352
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 16142352
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 16142352
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18628434
★★★★★
★☆☆☆☆
Found in Text Mining only