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Gene Information
Gene ID:2566
Symbol:GABRG2
Full Name:gamma-aminobutyric acid (GABA) A receptor, gamma 2
Alias:CAE2|ECA2|GEFSP3
Organism:Homo sapiens (Human)
Chromosome:5
Genetic Location:5q31.1-q33.1
Physical Location:161427294-161515105 on NC_000005.8
Gene Type:protein-coding
Orthologs:This gene has Mouse: 14406 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:GABRG2
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:GABRG2
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 IDNo. of PublicationsPhenotype
GABRG24Alcoholism
GABRG23Alcohol-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
mRNAProteinReference assembly Genomic
NM_000816.3NP_000807.2NC_000005.8 range: 161427294..161515105
NM_198903.2NP_944493.2NC_000005.8 range: 161427294..161515105
NM_198904.2NP_944494.1NC_000005.8 range: 161427294..161515105
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0045211postsynaptic membraneCellular ComponentIEA
GO:0045202synapseCellular ComponentIEA
GO:0030054cell junctionCellular ComponentIEA
GO:0005886plasma membraneCellular ComponentIEA
GO:0005887integral to plasma membraneCellular ComponentTAS (2538761)
GO:0016021integral to membraneCellular ComponentIEA
GO:0031404chloride ion bindingMolecular FunctionIEA
GO:0030594neurotransmitter receptor activityMolecular FunctionIEA
GO:0008503benzodiazepine receptor activityMolecular FunctionTAS (2538761)
GO:0004890GABA-A receptor activityMolecular FunctionIEA
GO:0005515protein bindingMolecular FunctionIPI (9892355)
GO:0005254chloride channel activityMolecular FunctionIEA
GO:0005230extracellular ligand-gated ion channel activityMolecular FunctionIEA
GO:0005216ion channel activityMolecular FunctionIEA
GO:0007214gamma-aminobutyric acid signaling pathwayBiological ProcessTAS (2538761)
GO:0006821chloride transportBiological ProcessIEA
GO:0006811ion transportBiological ProcessIEA
GO:0007214gamma-aminobutyric acid signaling pathwayBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:2566
HGNC:4087
Ensembl:ENSG00000113327
MIM:137164
HPRD:00663
HuGE Navigator:2566
dbSNP:GABRG2
GeneCard:GABRG2
AceView:GABRG2