ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

USH2A

Full Name:

Usher syndrome 2A (autosomal recessive, mild)

Alias:

RP39|US2|USH2|USHERIN|dJ1111A8.1

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

1q41

Physical Location:

213862858-214663360 on NC_000001.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 22283 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs4129019 dbSNP	1.16	5

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 Refseq Sequence Annotation

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0005576	extracellular region	Cellular Component	IEA
GO:0005604	basement membrane	Cellular Component	IDA (12433396)
GO:0005737	cytoplasm	Cellular Component	IDA (16434480)
GO:0042995	cell projection	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0030165	PDZ domain binding	Molecular Function	IPI (16434480)
GO:0005518	collagen binding	Molecular Function	IDA (14676276)
GO:0007605	sensory perception of sound	Biological Process	IMP (10090909)
GO:0045494	photoreceptor cell maintenance	Biological Process	IMP (10090909)
GO:0048496	maintenance of organ identity	Biological Process	IMP (15671307)
GO:0050896	response to stimulus	Biological Process	IEA