ATXN8

Summary

ATXN8 (ataxin 8, HGNC:32925) is a protein-coding gene on chromosome 13q21.33, encoding Ataxin-8 (Q156A1).

Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).

Source: NCBI Gene 724066 — RefSeq curated summary.

At a glance

• Gene type: non-coding (TEC) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32925
Approved symbol	ATXN8
Name	ataxin 8
Location	13q21.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000288330
Ensembl biotype	TEC
OMIM	613289
Entrez	724066

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 TEC

ENST00000673087

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000673087 — 1 exons

Exon	Start	End
ENSE00003894135	70137831	70139431

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 72.70.

Top tissues by expression

35 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	72.70	gold quality
cortical plate	UBERON:0005343	58.20	silver quality
monocyte	CL:0000576	52.67	gold quality
blood	UBERON:0000178	48.31	silver quality
substantia nigra	UBERON:0002038	47.96	gold quality
islet of Langerhans	UBERON:0000006	47.80	gold quality
cortex of kidney	UBERON:0001225	47.59	silver quality
muscle of leg	UBERON:0001383	47.30	silver quality
smooth muscle tissue	UBERON:0001135	46.38	silver quality
heart left ventricle	UBERON:0002084	46.14	gold quality
small intestine	UBERON:0002108	45.67	silver quality
liver	UBERON:0002107	45.58	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	45.51	silver quality
prefrontal cortex	UBERON:0000451	45.46	silver quality
body of pancreas	UBERON:0001150	45.46	silver quality
Brodmann (1909) area 9	UBERON:0013540	44.16	silver quality
adrenal gland	UBERON:0002369	44.03	gold quality
left adrenal gland	UBERON:0001234	43.38	gold quality
gastrocnemius	UBERON:0001388	42.88	silver quality
spleen	UBERON:0002106	42.29	silver quality
adult mammalian kidney	UBERON:0000082	42.19	silver quality
esophagus mucosa	UBERON:0002469	42.14	silver quality
anterior cingulate cortex	UBERON:0009835	41.00	silver quality
nucleus accumbens	UBERON:0001882	40.41	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	40.32	silver quality
omental fat pad	UBERON:0010414	40.10	silver quality
left ovary	UBERON:0002119	39.97	silver quality
esophagogastric junction muscularis propria	UBERON:0035841	39.24	silver quality
ascending aorta	UBERON:0001496	39.20	silver quality
body of stomach	UBERON:0001161	38.78	silver quality

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 8)

• expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels (PMID:16804541)
• CUG-repeat expansion is toxic and affects ATXN8 RNA expression and stability through epigenetic and post-transcriptional. mechanisms. (PMID:19203395)
• The spinocerebellar ataxia type 8 is caused by Trinucleotide Repeat Expansion in ataxin 8 protein. (PMID:21827909)
• Report a fluorescent PCR method for detection of expanded repeats in the ATXN8OS/ATXN8 gene in spinocerebellar ataxia type 8. (PMID:22053702)
• This study identified only one patient with an SCA8 expansion in Greek patients with Huntington’s disease. (PMID:22297462)
• suggest that ATXN8 -62 G/A polymorphism plays a role in Taiwanese Parkinson’s disease susceptibility (PMID:22577844)
• Three SNPs cosegregate with the expanded alleles and spinocerebellar ataxia type 8 in Brazilian family. (PMID:28229454)
• CCG*CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. (PMID:34632710)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.