ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SLC6A4

Full Name:

solute carrier family 6 (neurotransmitter transporter, serotonin), member 4

Alias:

5-HTT|5HTT|HTT|OCD1|SERT|hSERT

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

17q11.1-q12

Physical Location:

25549031-25586840 on NC_000017.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 15567 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

SLC6A4

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:

SLC6A4

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
SLC6A4	1	Alcohol Intoxication
SLC6A4	3	Alcohol-Induced Disorders
SLC6A4	1	Alcohol-Induced Disorders Nervous System
SLC6A4	50	Alcoholism
SLC6A4	38	Alcohol-Related Disorders
SLC6A4	1	Alcohol Withdrawal Delirium

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_001045.3	NP_001036.1	NC_000017.9 range: 25549031..25586840, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016020	membrane	Cellular Component	IEA
GO:0005887	integral to plasma membrane	Cellular Component	TAS (7681602)
GO:0015293	symporter activity	Molecular Function	IEA
GO:0015222	serotonin transmembrane transporter activity	Molecular Function	TAS (7681602)
GO:0008504	monoamine transmembrane transporter activity	Molecular Function	IDA (16024787)
GO:0005515	protein binding	Molecular Function	IPI (11343649)
GO:0005335	serotonin:sodium symporter activity	Molecular Function	IEA
GO:0006837	serotonin transport	Biological Process	TAS (7681602)
GO:0015844	monoamine transport	Biological Process	IDA (16024787)
GO:0001504	neurotransmitter uptake	Biological Process	TAS (7681602)