ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CYP2E1

Full Name:

cytochrome P450, family 2, subfamily E, polypeptide 1

Alias:

CPE1|CYP2E|P450-J|P450C2E

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

10q24.3-qter

Physical Location:

135190856-135202609 on NC_000010.9

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

CYP2E1

Dataset Information

Name:		18477577
Method:		Addiction array gene list
Publication:		Hodgkinson et al. Alcohol Alcohol. (2008) Addictions Biology: Haplotype-Based Analysis for 130 Candidate Genes on a Single Array. PubMed
Summary:		To develop a panel of markers able to extract full haplotype information for candidate genes in alcoholism, other addictions and disorders of mood and anxiety. Methods: A total of 130 genes were haplotype tagged and genotyped in 7 case/control populations and 51 reference populations using Illumina GoldenGate SNP genotyping technology, determining haplotype coverage. The 130 candidate genes were selected on the basis of their roles in functional domains important in the addictions and in the related phenotypes of anxiety and depression. The candidate genes included a limited number involved in the pharmacokinetic domain (e.g. several genes in the ADH gene cluster, and ALDH genes). The majority of the genes represent the domains of vulnerability to drug use and pharmacodynamic response. These include dopamine, serotonin, glutamine, GABA, and opioid neurotransmitter genes, signaling genes, and genes modulating stress resiliency and behavioral dyscontrol domains. There is a high degree of overlap between functional gene categories because of pleiotropic actions of molecules on behavior.

Gene Information

Original ID1:

CYP2E1

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Gene Information

Original ID	No. of Publications	Phenotype
CYP2E1	18	Alcohol-Induced Disorders
CYP2E1	1	Alcohol-Induced Disorders Nervous System
CYP2E1	24	Alcoholism
CYP2E1	27	Alcohol-Related Disorders

HuGE Navigator Dataset

Name:		HuGE Navigator
Method:		Literature data mining
Publication:		Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:		HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_000773.3	NP_000764.1	NC_000010.9 range: 135190856..135202609

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005783	endoplasmic reticulum	Cellular Component	IEA
GO:0005789	endoplasmic reticulum membrane	Cellular Component	EXP (10731522\|10741631\|11701230)
GO:0005789	endoplasmic reticulum membrane	Cellular Component	IEA
GO:0005792	microsome	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0004497	monooxygenase activity	Molecular Function	IEA
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0020037	heme binding	Molecular Function	IEA
GO:0019825	oxygen binding	Molecular Function	TAS (3233219)
GO:0019825	oxygen binding	Molecular Function	EXP (10731522\|10741631\|11701230)
GO:0009055	electron carrier activity	Molecular Function	IEA
GO:0005506	iron ion binding	Molecular Function	IEA
GO:0050381	unspecific monooxygenase activity	Molecular Function	IEA