ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

57679

Symbol:

ALS2

Full Name:

amyotrophic lateral sclerosis 2 (juvenile)

Alias:

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

2q33.1

Physical Location:

202273521-202353982 on NC_000002.10, complement

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs2349733 dbSNP	1.19	13

Association Dataset

Name:		16894614
Method:		Association
Publication:		Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:		Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).

Linkage Dataset

Marker

LOD

P value

Location (bp)

D2S117

195326948

Region:		195326948-216757195
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_020919.2	NP_065970.2	NC_000002.10 range: 202273521..202353982, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0001726	ruffle	Cellular Component	ISS
GO:0043234	protein complex	Cellular Component	IDA (15247254)
GO:0042598	vesicular fraction	Cellular Component	IDA (12837691)
GO:0030425	dendrite	Cellular Component	IDA (15371724)
GO:0030027	lamellipodium	Cellular Component	ISS
GO:0005829	cytosol	Cellular Component	IDA (12837691)
GO:0005813	centrosome	Cellular Component	IDA (16085057)
GO:0005769	early endosome	Cellular Component	IDA (12837691)
GO:0005622	intracellular	Cellular Component	IEA
GO:0005087	Ran guanyl-nucleotide exchange factor activity	Molecular Function	NAS (11586298)
GO:0005085	guanyl-nucleotide exchange factor activity	Molecular Function	IDA (15247254)
GO:0043539	protein serine/threonine kinase activator activity	Molecular Function	IDA (16049005)
GO:0030676	Rac guanyl-nucleotide exchange factor activity	Molecular Function	IDA (16049005)
GO:0005515	protein binding	Molecular Function	IPI (17239822)
GO:0017137	Rab GTPase binding	Molecular Function	NAS (16670179)
GO:0017137	Rab GTPase binding	Molecular Function	IDA (15247254)
GO:0017112	Rab guanyl-nucleotide exchange factor activity	Molecular Function	IDA (12837691)
GO:0042803	protein homodimerization activity	Molecular Function	IPI (15247254)
GO:0045860	positive regulation of protein kinase activity	Biological Process	IDA (16049005)
GO:0048812	neurite morphogenesis	Biological Process	IDA (16049005)
GO:0035023	regulation of Rho protein signal transduction	Biological Process	IEA
GO:0035022	positive regulation of Rac protein signal transduction	Biological Process	IC (16049005)
GO:0032855	positive regulation of Rac GTPase activity	Biological Process	IDA (16049005)
GO:0007032	endosome organization and biogenesis	Biological Process	NAS (12837691)
GO:0051036	regulation of endosome size	Biological Process	IEP (15247254)