GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneITPR2
Other namesIP3R2; ITPR2
Gene name 
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome12p11.23
GRCh37 (hg19)Chr12:26488285-26986131 ( -)
GRCh38 (hg38)Chr12:26335352-26833198(-)
BackgroundOur aim was to identify genetic variants that predispose for sporadic ALS.
ResultA genetic variant in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2) was associated with ALS
Mutations0
Patients0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
van Es2007ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association studyFull_Paper
van Es2007ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association studyFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 2306677266363863.28E-06van Es2007GRCh37ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study