GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneOPTN
Other namesNRP; FIP2; HIP7; HYPL; GLC1E; TFIIIA-INTP; OPTN
Gene nameoptineurin
Gene inheritanceFALS genes found in SALS
Discovery methodHomozygosity mapping
CategoryCELL DEATH
Chromosome10p13
GRCh37 (hg19)Chr10:13142082-13180276 ( +)
GRCh38 (hg38)Chr10:13100075-13138291(+)
BackgroundOPTN plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8
ResultThe mutations of the OPTN gene cause both recessive and dominant traits
Mutations39
Patients24
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
159141051904824

BIOINFORMATICS

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TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (11)

First_AuthorYearTitlePaper
Belzil2010Analysis of OPTN as a causative gene for amyotrophic lateral sclerosisFull_Paper
Del Bo2011Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosisFull_Paper
Johnson2012Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patientsFull_Paper
Lida2011Optineurin mutations in Japanese amyotrophic lateral sclerosisFull_Paper
Maruyama2010Mutations of optineurin in amyotrophic lateral sclerosisFull_Paper
Millecamps2011Screening of OPTN in French familial amyotrophic lateral sclerosisFull_Paper
Özoguz2015The distinct genetic pattern of ALS in Turkey and novel mutationsFull_Paper
Sugihara2011Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian populationFull_Paper
Tümer2012Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALSFull_Paper
van Blitterswijk2011Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patientsFull_Paper
Weishaupt2013A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in GermanyFull_Paper