ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

AGTR1

Full Name:

angiotensin II receptor, type 1

Alias:

AG2S|AGTR1A|AGTR1B|AT1|AT1B|AT1R|AT2R1|AT2R1A|AT2R1B|HAT1R

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

3q21-q25

Physical Location:

149898347-149943479 on NC_000003.10

Gene Type:

protein-coding

Orthologs:

This gene has Rat: 24180 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

AGTR1

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 SNP Information

Association Dataset

Name:		16894614
Method:		Association
Publication:		Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:		Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).

Gene Information

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

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0005887	integral to plasma membrane	Cellular Component	TAS (1378723)
GO:0005886	plasma membrane	Cellular Component	TAS (1378723)
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0001584	rhodopsin-like receptor activity	Molecular Function	IEA
GO:0016494	C-X-C chemokine receptor activity	Molecular Function	IEA
GO:0004947	bradykinin receptor activity	Molecular Function	IEA
GO:0004945	angiotensin type II receptor activity	Molecular Function	NAS (8135787)
GO:0004945	angiotensin type II receptor activity	Molecular Function	IEA
GO:0004872	receptor activity	Molecular Function	IEA
GO:0008015	blood circulation	Biological Process	NAS (8135787)
GO:0007589	body fluid secretion	Biological Process	NR
GO:0007204	elevation of cytosolic calcium ion concentration	Biological Process	TAS (1567413)
GO:0007200	G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)	Biological Process	TAS (1378723)
GO:0007186	G-protein coupled receptor protein signaling pathway	Biological Process	IEA
GO:0007165	signal transduction	Biological Process	IEA