help  | about  | cite  | software

Gene : ALS2 Homo sapiens

Name  ? alsin Rho guanine nucleotide exchange factor ALS2 Cytological Location  2q33.1
Brief Description  ALS2, alsin Rho guanine nucleotide exchange factor
description  The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
  • synonyms:
  • amyotrophic lateral sclerosis 2 (juvenile),
  • PLSJ,
  • IAHSP,
  • ALSJ,
  • NM_020919,
  • alsin,
  • uc002uyo.4,
  • AB053305,
  • OTTHUMG00000154507,
  • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6,
  • ALS2,
  • ALS2CR6,
  • HGNC:443,
  • ALS2CR6
  • identifiers:
  • 57679,
  • ENSG00000003393,
  • ALS2

Genome feature

Region: gene ? Length: 80910  
Location: 2:201700263-201781172 reverse strand Cyto location: 2q33.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results