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	ALS2
Other names	ALSJ; PLSJ; IAHSP; ALS2CR6; FLJ31851; KIAA1563; MGC87187
Gene name	alsin
Gene inheritance category	FALS genes
Category	REGENERATION, TROPHISM AND MOTONEURONAL DEATH
Chromosome	2q33.2
Background	Causes autosomal recessive juvenile ALS (ALS2).
Result	No association with human ALS demonstrated/ replicated
Total Mutations	23
Total Affected	10

FALS	SALS	Male	Female	Bulbar	Limb	No data	Mean age onset	N
10	0	7	3	2	8	0	1	10

BIOINFORMATICS

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

iHop Pathway GeneTest ALS review Mutation Google Map Patients Neuromuscular

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

KEY PUBLICATIONS (16)

First_Author	Year	Title	Paper
Al-Chalabi	2003	Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis	Full_Paper
Brugman	2007	Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene	Full_Paper
Devon	2003	The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings	Full_Paper
Eymard-Pierre	2002	Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene	Full_Paper
Gros-Louis	2003	An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani Kindred	Full_Paper
Hadano	2001	A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2	Full_Paper
Hadano	2001	The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis	Full_Paper
Hadano	2007	Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration	Full_Paper
Hand	2002	A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q	Full_Paper
Hand	2003	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis	Full_Paper
Hentati	1994	Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33q35	Full_Paper
Hosler	1998	Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33	Full_Paper
Kress	2005	Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis	Full_Paper
Nagano	2003	Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis	Full_Paper
Panzeri	2006	The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function	Full_Paper
Shirakawa	2009	Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan	Full_Paper
Takahashi	2008	Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis	Full_Paper
Verschuuren-Bemelmans	2008	Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe	Full_Paper
Yang	2001	The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis	Full_Paper

GENETIC VARIATIONS

SNP (rs)	Basepair	pvalue	Author	Year	Term	Paper
			Devon	2003	GRCh37	The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
	202588020		Eymard-Pierre	2002	GRCh37	Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
	202598036		Eymard-Pierre	2002	GRCh37	Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
	202598042		Eymard-Pierre	2002	GRCh37	Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
	202619384		Eymard-Pierre	2002	GRCh37	Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
	202625668		Eymard-Pierre	2002	GRCh37	Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
	202569294		Gros-Louis	2003	GRCh37	An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani Kindred
	202622207		Hadano	2001	GRCh37	A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
	202631989		Hadano	2001	GRCh37	A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
11300	202565570	0.2	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
2276615	202598113	0.69	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
2302625	202622509	0.09	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219152	202645634	0.32	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219153	202633582	0.65	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219154	202626437	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219155	202626242	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219156	202625615	0.34	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219157	202619333	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219158	202617866	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219159	202611138	0.4	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219160	202606507	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219161	202593280	0.67	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219162	202591607	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219163	202589257	0.14	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219164	202588188	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219165	202587715	0.2	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219166	202582895	0.55	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219167	202580370	0.72	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219168	202575821	0.74	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219169	202571562	0.22	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219170	202570232	0.76	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219171	202569992		Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219172	202566411	0.99	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219173	202566127	0.1	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
3219174	202565681	0.54	Hand	2003	GRCh37	Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
	202626214		Kress	2005	GRCh37	Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis
	202611420		Yang	2001	GRCh37	The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
	202631989		Yang	2001	GRCh37	The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis