ATXN8OS

Summary

ATXN8OS (ATXN8 opposite strand lncRNA, HGNC:10561) is a long non-coding RNA gene on chromosome 13q21.33.

This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript.

Source: NCBI Gene 6315 — RefSeq curated summary.

At a glance

• Gene type: non-coding (lncRNA) — 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:10561
Approved symbol	ATXN8OS
Name	ATXN8 opposite strand lncRNA
Location	13q21.33
Locus type	RNA, long non-coding
Status	Approved
Aliases	NCRNA00003
Ensembl gene	ENSG00000230223
Ensembl biotype	lncRNA
OMIM	603680
Entrez	6315
RNAcentral	URS00026A1FC2 — lncRNA, 1264 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 15 lncRNA

ENST00000414504, ENST00000424524, ENST00000660386, ENST00000665905, ENST00000677785, ENST00000678624, ENST00000717781, ENST00000717782, ENST00000717783, ENST00000756268, ENST00000756269, ENST00000756270, ENST00000756271, ENST00000756272, ENST00000756273

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000414504 — 5 exons

Exon	Start	End
ENSE00001618232	70129784	70129884
ENSE00001662636	70107213	70107741
ENSE00001670575	70130678	70130848
ENSE00001747278	70115141	70115298
ENSE00003527651	70139241	70139429

Expression profiles

Bgee: expression breadth ubiquitous, 110 present calls, max score 76.22.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.22	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.48	gold quality
pleura	UBERON:0000977	70.13	silver quality
substantia nigra	UBERON:0002038	68.91	gold quality
cortical plate	UBERON:0005343	68.17	gold quality
ileal mucosa	UBERON:0000331	68.14	silver quality
vastus lateralis	UBERON:0001379	65.16	gold quality
colonic epithelium	UBERON:0000397	64.77	silver quality
hypothalamus	UBERON:0001898	64.37	gold quality
quadriceps femoris	UBERON:0001377	63.08	gold quality
duodenum	UBERON:0002114	63.07	gold quality
diaphragm	UBERON:0001103	62.72	gold quality
deltoid	UBERON:0001476	62.35	gold quality
colonic mucosa	UBERON:0000317	60.86	silver quality
tibialis anterior	UBERON:0001385	60.84	silver quality
blood	UBERON:0000178	58.63	gold quality
ganglionic eminence	UBERON:0004023	58.59	silver quality
hindlimb stylopod muscle	UBERON:0004252	57.83	silver quality
muscle tissue	UBERON:0002385	57.78	gold quality
skeletal muscle tissue	UBERON:0001134	57.55	gold quality
nucleus accumbens	UBERON:0001882	56.40	gold quality
amygdala	UBERON:0001876	56.37	gold quality
temporal lobe	UBERON:0001871	56.35	gold quality
leukocyte	CL:0000738	55.69	gold quality
monocyte	CL:0000576	55.61	gold quality
mononuclear cell	CL:0000842	55.49	gold quality
cartilage tissue	UBERON:0002418	55.01	gold quality
islet of Langerhans	UBERON:0000006	54.78	gold quality
epithelium of esophagus	UBERON:0001976	54.28	gold quality
prefrontal cortex	UBERON:0000451	54.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	8.42
E-ANND-3	yes	2.62

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 19)

• CTG expansion in SCA8 locus is associated with Machado-Joseph disease (PMID:11697524)
• triplet expansion in SCA8 gene may have pathogenic role in spinocerebellar ataxia (PMID:12140678)
• Primate comparison shows human-specific features, with longer human alleles due to a novel variable trinucleotide repeat, not present in non-human primates, which increased the disease-causing expansion likelihood. (PMID:12505613)
• abnormal expansions of an allele in SCA8 and SCA17 genes were detected in patients with both Parkinson’s disease and spinocerebellar ataxia (PMID:14756671)
• Expansion of CTA/CTG repeats in the SCA8 locus was found in 2 of 100 controls and in 5 probands among 150 pedigrees affected with unidentified ataxias. (PMID:14960773)
• Our finding that SCA8 expansions on three independently arising haplotypes are found among patients with ataxia and cosegregate with ataxia when multiple family members are affected (PMID:15152344)
• SCA8 gene test in a patient with pathologically proven multiple system atrophy. (PMID:15732096)
• Molecular genetics of spinocerebellar ataxia type 8. (PMID:17132942)
• Coexistence of SCA8 repeat expansion with 16q-ADCA may be involved in the pathogenesis and severe symptoms in this family. (PMID:18684474)
• SCA8 was expressed in human brain, testis, kidney, prostate gland and, as not known previously, in the pancreas; it was also expressed in the testes but not the ovaries. (PMID:18708037)
• frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China. (PMID:18841561)
• assessed the SCA8 repeat size ranges in Taiwanese Parkinson’s disease, Alzheimer’s disease and atypical parkinsonism and investigated the genetic variation modulating ATXN8 expression (PMID:19229559)
• Both toxic protein and RNA of SCA8 contributes to Spinocerebellar Ataxias type 8. (PMID:19680445)
• SCA8 RNA dysregulate MBNL/CELF regulated pathways in the brain and plays a significant role in spinocerebellar ataxia type 8. (PMID:19680539)
• the ATXN8OS putative ORF protein could be translatable and may be expressed via a naturally occurring non-AUG start codon. (PMID:24040107)
• Prevalence of SCA8 tri-nucleotide CTG repeat expansion (CTGexp) was 1.71% among the ataxia subject cohort. On the chromosomal basis, the SCA8 CTGexp was seen in 0.98% of all chromosomes analyzed. Seven out of 14 subjects with the SCA8 CTGexp had other SCAs as well. Three out of 93 SCA6 subjects (3.2%) and 1 out of 72 MJD/SCA3 subjects (1.4%) had SCA8 CTGexp. (PMID:29111027)
• ATXN8OS acts as a tumour promoter by sequestering miR-204 during the development of breast cancer. (PMID:31173245)
• CCG*CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. (PMID:34632710)
• Long non-coding RNA ATXN8OS promotes ferroptosis and inhibits the temozolomide-resistance of gliomas through the ADAR/GLS2 pathway. (PMID:35460867)

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.