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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).
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.