ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

MSH3

Full Name:

mutS homolog 3 (E. coli)

Alias:

DUP|MGC163306|MGC163308|MRP1

Organism:

Homo sapiens (Human)

Chromosome:

5

Genetic Location:

5q11-q12

Physical Location:

79986049-80208389 on NC_000005.8

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs2897262 dbSNP	0.79	18
rs1650663 dbSNP	1.17	18

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

mRNA	Protein	Reference assembly Genomic
NM_002439.2	NP_002430.2	NC_000005.8 range: 79986049..80208389

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0032302	MutSbeta complex	Cellular Component	IDA (8942985)
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0032142	single guanine insertion binding	Molecular Function	IDA (8942985)
GO:0032137	guanine/thymine mispair binding	Molecular Function	IDA (11809883)
GO:0030983	mismatched DNA binding	Molecular Function	IDA (8942985)
GO:0032357	oxidized purine DNA binding	Molecular Function	IDA (11756455)
GO:0042803	protein homodimerization activity	Molecular Function	IDA (8942985)
GO:0005524	ATP binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (11427529\|14657349)
GO:0003697	single-stranded DNA binding	Molecular Function	IDA (11809883)
GO:0003677	DNA binding	Molecular Function	IEA
GO:0000701	purine-specific mismatch base pair DNA N-glycosylase activity	Molecular Function	IMP (11005803)
GO:0032181	dinucleotide repeat insertion binding	Molecular Function	IDA (8942985)
GO:0006298	mismatch repair	Biological Process	IMP (8782829)
GO:0006298	mismatch repair	Biological Process	IDA (11005803)
GO:0006284	base-excision repair	Biological Process	IDA (8942985)
GO:0043570	maintenance of DNA repeat elements	Biological Process	IMP (16388310)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000113318

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: