GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneUBQLN2
Other namesDSK2; CHAP1; N4BP4; PLIC2; FLJ10167; FLJ56541; HRIHFB2157
Gene nameubiquilin 2
Gene inheritanceFALS genes
Discovery methodNGS
Category 
ChromosomeXp11.21
GRCh37 (hg19)ChrX:56590026-56593443 ( +)
GRCh38 (hg38)ChrX:56563593-56567010(+)
BackgroundIt is unclear whether ALS and dementia share common aetiology and pathogenesis in ALS/dementia.
ResultFunctional analysis showed that mutations in UBQLN2 lead to an impairment of protein degradation. Therefore, findings link abnormalities in ubiquilin2 to defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that can be exploited for therapeutic intervention.
Mutations26
Patients90
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
671640431271124383

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (15)

First_AuthorYearTitlePaper
Brettschneider2012Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansionFull_Paper
Daoud2012UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosisFull_Paper
Deng2011Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaFull_Paper
Dillen2013Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patientsFull_Paper
Fahed2014UBQLN2 mutation causing heterogeneous X-linked dominant neurodegenerationFull_Paper
Gellera2013Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementiaFull_Paper
Kim2014Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosisFull_Paper
McLaughlin2014UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in IrelandFull_Paper
Millecamps2012Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosisFull_Paper
Morris2012Recent advances in the genetics of the ALS-FTLD complexFull_Paper
Özoguz2015The distinct genetic pattern of ALS in Turkey and novel mutationsFull_Paper
Synofzik2012Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotypeFull_Paper
van Doormaal2012UBQLN2 in familial amyotrophic lateral sclerosis in The NetherlandsFull_Paper
Vengoechea2013Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2Full_Paper
Williams2012UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosisFull_Paper