ALSoD: Amyotrophic Lateral Sclerosis Online Genetics Database

ALS ONLINE GENETICS DATABASE

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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS

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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS

Gene	SMN2
Other names	SMNC; BCD541; MGC5208; C-BCD541; FLJ76644; MGC20996
Gene name	survival of motor neuron 2, centromeric
Gene inheritance category	SALS genes
Category	ALTERED DNA/RNA PROCESSING
Chromosome	5q13.2
Background	Component of an import snRNP complex, interact with with several spliceosomal snRNP core Sm proteins. SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity.
Result	SMN genotypes which reduce SMN protein levels associated with SALS
Total Mutations	0
Total Affected	0

BIOINFORMATICS

Entrez Gene UCSC Browser Protein Structure OMIM Genecards Full Literature ProtScale Sequence Uniprot

iHop Pathway GeneTest ALS review

GeneMANIA AmiGO Gene Wiki Wolfram Alpha Ensembl NCBI WikiGenes Life Science DB(Japan) ALSGene GeneNetwork

KEY PUBLICATIONS (6)

First_Author	Year	Title	Paper
Corcia	2002	Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis	Full_Paper
Corcia	2002	SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist	Full_Paper
Gamez	2002	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients	Full_Paper
Veldink	2001	Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS	Full_Paper
Veldink	2005	SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS	Full_Paper
Zou	2007	SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity	Full_Paper

GENETIC VARIATIONS

SNP (rs)	Basepair	pvalue	Author	Year	Term	Paper
11300	202565570	0.2	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
2276615	202598113	0.69	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
2302625	202622508	0.09	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219152	202645633	0.32	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219153	202633582	0.65	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219154	202626437	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219155	202626242	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219156	202625615	0.34	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219157	202619333	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219158	202617866	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219159	202611138	0.4	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219160	202606507	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219161	202593280	0.67	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219162	202591607	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219163	202589257	0.14	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219164	202588188	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219165	202587715	0.2	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219166	202582895	0.55	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219167	202580370	0.72	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219168	202575821	0.74	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219169	202571562	0.22	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219170	202570232	0.76	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219171	202569992	0.002	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219172	202566411	0.99	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219173	202566127	0.1	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
3219174	202565681	0.54	Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
	69366468		Gamez	2002	GRCh37	Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients