ATXN2 wt Allele

Preferred Label : ATXN2 wt Allele;

NCIt synonyms : TNRC13; ATX2; ASL13; Ataxin 2 wt Allele; SCA2; Trinucleotide Repeat-Containing Gene 13; Spinocerebellar Ataxia 2 (Olivopontocerebellar Ataxia 2, Autosomal Dominant, Ataxin 2) Gene;

NCIt definition : Human ATXN2 wild-type allele is located in the vicinity of 12q24.1 and is approximately 147 kb in length. This allele, which encodes ataxin-2 protein, is involved in the regulation of endocytosis of the epidermal growth factor receptor. Mutation of the gene is associated with spinocerebellar ataxia type 2, susceptibility to amyotrophic lateral sclerosis 13 and increased susceptibility for late-onset Parkinson disease.;

GenBank Accession Number : U80749;

Details

Origin ID

C124927;

UMLS CUI

C4084798;

Automatic exact mappings (from CISMeF team)
- Spinocerebellar ataxia 2 [OMIM Phenotype]
- Spinocerebellar ataxia type 2 [ORDO Disease]
- ataxin 2 [ORDO Gene]
- spinocerebellar ataxias [MeSH Descriptor]
OMIM relation
- Ataxin 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.1 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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