ATXN8OS ATXN8 opposite strand lncRNA [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATXN8OSprovided by HGNC
Official Full Name: ATXN8 opposite strand lncRNAprovided by HGNC
Primary source: HGNC:HGNC:10561
See related: MIM:603680; AllianceGenome:HGNC:10561
Gene type: ncRNA
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCA8; KLHL1AS; NCRNA00003
Summary: 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. [provided by RefSeq, Oct 2008]
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: 13q21.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (70107213..70139753)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (69329084..69361595)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (70681345..70713885)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long non-coding RNA ATXN8OS promotes ferroptosis and inhibits the temozolomide-resistance of gliomas through the ADAR/GLS2 pathway.
Title: Long non-coding RNA ATXN8OS promotes ferroptosis and inhibits the temozolomide-resistance of gliomas through the ADAR/GLS2 pathway.
CCG*CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
Title: CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
ATXN8OS acts as a tumour promoter by sequestering miR-204 during the development of breast cancer.
Title: lncRNA ATXN8OS promotes breast cancer by sequestering miR‑204.
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.
Title: Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects.
the ATXN8OS putative ORF protein could be translatable and may be expressed via a naturally occurring non-AUG start codon.
Title: Internal ribosome entry segment activity of ATXN8 opposite strand RNA.
SCA8 RNA dysregulate MBNL/CELF regulated pathways in the brain and plays a significant role in spinocerebellar ataxia type 8.
Title: RNA gain-of-function in spinocerebellar ataxia type 8.
Both toxic protein and RNA of SCA8 contributes to Spinocerebellar Ataxias type 8.
Title: SCA8 CAG/CTG expansions, a tale of two TOXICities: a unique or common case?
Molecular genetics of spinocerebellar ataxia type 8.
Title: Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
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.
Title: SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
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
Title: SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Parkinson disease, late-onset MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview	Compare labs
Spinocerebellar ataxia type 8 MedGen: C1837454 OMIM: 608768 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 8	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D4S2793 (e-PCR)
- UniSTS:32285

SCA8_SNP1 (e-PCR)
- UniSTS:478024

Other Names

ATXN8 opposite strand (non-protein coding)
ataxin 8 opposite strand
kelch-like 1 antisense
non-protein coding RNA 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.