Ataxin-2 - CISMeF

Preferred Label : Ataxin-2;

NCIt synonyms : Spinocerebellar Ataxia Type 2 Protein; Trinucleotide Repeat Containing 13; Trinucleotide Repeat-Containing Gene 13 Protein; ATXN2;

NCIt definition : Ataxin-2 (1313 aa, 140 kDa) is encoded by the human ATXN2 gene. This protein plays a role in the modulation of epidermal growth factor receptor internalization.;

Details

Origin ID

C124928;

UMLS CUI

C1569985;

Automatic exact mappings (from CISMeF team)
- Ataxin-2 [MeSH concept]
- Ataxin-2 [MeSH Descriptor]
- ataxin 2 [ORDO Gene]
- ataxin 2 [HGNC gene]
OMIM relation
- Ataxin 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- ATXN2 protein, human [MeSH Supplementary Concept]
- ATXN2 protein, human [MeSH concept]
gene_encodes_gene_product
- ATXN2 Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Cytoplasm [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- 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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