Home Search BLAST Integration Document Link Support Citation

Gene Information
Gene ID:3709
Full Name:inositol 1,4,5-triphosphate receptor, type 2
Organism:Homo sapiens (Human)
Genetic Location:12p11
Physical Location:26379551-26877397 on NC_000012.10, 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
rs1049380      dbSNP1.1641
rs4654      dbSNP0.8641
Association Dataset
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_002223.2NP_002214.2NC_000012.10 range: 26379551..26877397, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0016021integral to membraneCellular ComponentIEA
GO:0005886plasma membraneCellular ComponentTAS (10828023)
GO:0005789endoplasmic reticulum membraneCellular ComponentIEA
GO:0005783endoplasmic reticulumCellular ComponentTAS (10828023)
GO:0005509calcium ion bindingMolecular FunctionIEA
GO:0005262calcium channel activityMolecular FunctionIEA
GO:0005220inositol 1,4,5-triphosphate-sensitive calcium-release channel activityMolecular FunctionIEA
GO:0008095inositol-1,4,5-triphosphate receptor activityMolecular FunctionTAS (8081734)
GO:0015085calcium ion transmembrane transporter activityMolecular FunctionTAS (8081734)
GO:0005216ion channel activityMolecular FunctionIEA
GO:0006811ion transportBiological ProcessIEA
GO:0006816calcium ion transportBiological ProcessIEA
GO:0007165signal transductionBiological ProcessTAS (8081734)
Other Database Cross Links
NCBI Entrez Gene:3709
HuGE Navigator:3709