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Gene Information
Gene ID:9223
Symbol:MAGI1
Full Name:membrane associated guanylate kinase, WW and PDZ domain containing 1
Alias:AIP3|BAIAP1|BAP1|MAGI-1|TNRC19|WWP3
Organism:Homo sapiens (Human)
Chromosome:3
Genetic Location:3p14.1
Physical Location:65314945-65999548 on NC_000003.10, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene SNP Information
SNPAbuser/Control RatioCluster
rs10510945      dbSNP0.7615
rs10510946      dbSNP0.7715
rs10510947      dbSNP1.1915
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
mRNAProteinReference assembly Genomic
NM_001033057.1NP_001028229.1NC_000003.10 range: 65314945..65999548, complement
NM_004742.2NP_004733.2NC_000003.10 range: 65314945..65999548, complement
NM_015520.1NP_056335.1NC_000003.10 range: 65314945..65999548, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005886plasma membraneCellular ComponentTAS (9647739)
GO:0005923tight junctionCellular ComponentIEA
GO:0000166nucleotide bindingMolecular FunctionIEA
GO:0016301kinase activityMolecular FunctionIEA
GO:0008022protein C-terminus bindingMolecular FunctionTAS (9647739)
GO:0016740transferase activityMolecular FunctionIEA
GO:0005524ATP bindingMolecular FunctionIEA
GO:0007166cell surface receptor linked signal transductionBiological ProcessTAS (9647739)
GO:0006461protein complex assemblyBiological ProcessNAS (9647739)
GO:0007155cell adhesionBiological ProcessTAS (9647739)
Other Database Cross Links
NCBI Entrez Gene:9223
HGNC:946
Ensembl:ENSG00000151276
MIM:602625
HPRD:04020
HuGE Navigator:9223
dbSNP:MAGI1
GeneCard:MAGI1
AceView:MAGI1