ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

ITPR2

Full Name:

inositol 1,4,5-triphosphate receptor, type 2

Alias:

IP3R2

Organism:

Homo sapiens (Human)

Chromosome:

12

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

SNP	Abuser/Control Ratio	Cluster
rs1049380 dbSNP	1.16	41
rs4654 dbSNP	0.86	41

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_002223.2	NP_002214.2	NC_000012.10 range: 26379551..26877397, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0005886	plasma membrane	Cellular Component	TAS (10828023)
GO:0005789	endoplasmic reticulum membrane	Cellular Component	IEA
GO:0005783	endoplasmic reticulum	Cellular Component	TAS (10828023)
GO:0005509	calcium ion binding	Molecular Function	IEA
GO:0005262	calcium channel activity	Molecular Function	IEA
GO:0005220	inositol 1,4,5-triphosphate-sensitive calcium-release channel activity	Molecular Function	IEA
GO:0008095	inositol-1,4,5-triphosphate receptor activity	Molecular Function	TAS (8081734)
GO:0015085	calcium ion transmembrane transporter activity	Molecular Function	TAS (8081734)
GO:0005216	ion channel activity	Molecular Function	IEA
GO:0006811	ion transport	Biological Process	IEA
GO:0006816	calcium ion transport	Biological Process	IEA
GO:0007165	signal transduction	Biological Process	TAS (8081734)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: