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ataxin 2
Sign in to saveAlso known as trinucleotide repeat-containing gene 13 protein, ataxin-2, spinocerebellar ataxia type 2 protein, ATXN2
Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene. Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2).
In the Vinony graph
Within Vinony's link graph, ataxin 2 is referenced by 13 other articles, and connects out to PubMed, Ensembl genome database project and protein.
It is catalogued under the topic Genes on human chromosome 12.
Its subject is documented across 4 Wikipedia language editions.
Protein · UniProt
Ataxin-2
- Gene
- ATXN2
- Organism
- Homo sapiens (Human)
- Length
- 1,313 aa
- Molecular mass
- 140,283 Da
- Evidence
- 1: Evidence at protein level
Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane
Swiss-Prot (reviewed) · via UniProt
Research
499 papers- Ataxin-2: a powerful RNA-binding protein.Discover oncology · 2024
- Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice.Nature · 2017
- Ataxin-2 gene: a powerful modulator of neurological disorders.Current opinion in neurology · 2021
- ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes.Nature communications · 2024
- Ataxin-2: From RNA Control to Human Health and Disease.Genes · 2017
via PubMed
Clinical Trials
1 registeredWikidata facts
- Instance of
- protein
Show 4 more facts
- P352
- Order of Canada
- found in taxon
- Homo sapiens
- molecular function
- protein binding
- cell component
- ribonucleoprotein complex
Sources (3)
via Wikidata · CC0
~3 min read
Encyclopedic overview
10 sectionsContents
- Protein structure
- Species, tissue, and subcellular distribution
- Function
- Clinical significance
- Spinocerebellar ataxia type 2 (SCA2)
- Amyotrophic lateral sclerosis (ALS)
- Primary open-angle glaucoma (POAG) and intraocular pressure (IOP)
- References
- Further reading
- External links
Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene. Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2).
== Protein structure == Ataxin-2 contains the following protein domains: Two LSm domains, which likely allow it to bind RNA A PAM2 motif, predicted to associate with the poly(A)-binding protein A polyglutamine tract in some species (located near the amino terminal in primates and between the LSm domains in insects) A potential transcript variant, missing an internal coding exon, has been described; however, its full-length nature is not certain.
Excerpted from Wikipedia’s “ataxin 2” article, available under the CC BY-SA 4.0 licence.