ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

GABRB1

Full Name:

gamma-aminobutyric acid (GABA) A receptor, beta 1

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

4p12

Physical Location:

46728335-47123201 on NC_000004.10

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 14400 Rat: 25450 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

GABRB1

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:

GABRB1

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
GABRB1	3	Alcoholism
GABRB1	2	Alcohol-Related Disorders
GABRB1	1	Alcohol Withdrawal Seizures

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_000812.2	NP_000803.1	NC_000004.10 range: 46728335..47123201

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0045211	postsynaptic membrane	Cellular Component	IEA
GO:0045202	synapse	Cellular Component	IEA
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0005887	integral to plasma membrane	Cellular Component	TAS (2465923)
GO:0030054	cell junction	Cellular Component	IEA
GO:0031404	chloride ion binding	Molecular Function	IEA
GO:0030594	neurotransmitter receptor activity	Molecular Function	IEA
GO:0004890	GABA-A receptor activity	Molecular Function	TAS (2465923)
GO:0005254	chloride channel activity	Molecular Function	IEA
GO:0005230	extracellular ligand-gated ion channel activity	Molecular Function	IEA
GO:0005216	ion channel activity	Molecular Function	IEA
GO:0007165	signal transduction	Biological Process	TAS (2465923)
GO:0006811	ion transport	Biological Process	IEA