Previous symbols: SCA2, TNRC13. Aliases: ATX2.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Amyotrophic Lateral Sclerosis | susceptibility | |
| Autosomal Dominant Cerebellar Ataxia Type I |
untyped
Representative SCA2 coding CAG/polyglutamine expansion
|
mechanism: Polyglutamine Proteotoxicity
|
| Spinocerebellar Ataxia Type 2 |
untyped
Translated CAG repeat expansion in exon 1 of ATXN2 encoding an elongated polyglutamine tract in ataxin-2. The normal allele range is 14-30 repeats, 31-34 is intermediate, and 35-500 is pathogenic. Normal alleles carry CAA interruptions; pathogenic alleles are typically pure CAG.
germline
gain of function
|
mechanism: Cytoplasmic PolyQ-Ataxin-2 Misfolding and Microaggregation; Expanded Translated CAG Repeat in ATXN2; Intermediate-Length ATXN2 Allele as an ALS Risk Modifier; Loss of Ataxin-2 RNA-Binding and Translational Regulation
treatment: ATXN2-Lowering Antisense Oligonucleotide (investigational)
|
| Autosomal Dominant Cerebellar Ataxia | no genetic record |
mechanism: Coding Polyglutamine Repeat Expansion; Expanded Polyglutamine Protein
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| spinocerebellar ataxia type 2 MONDO:0008458 | AD | Definitive 2024-02-13 |
Spinocerebellar Ataxia Type 2
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.