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

    Gene ID: 6315, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ATXN8OSprovided by HGNC
    Official Full Name
    ATXN8 opposite strand lncRNAprovided by HGNC
    Primary source
    HGNC:HGNC:10561
    See related
    Ensembl:ENSG00000230223 MIM:603680; AllianceGenome:HGNC:10561
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    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

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    See ATXN8OS in Genome Data Viewer
    Location:
    13q21.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (70107421..70171738)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (69329292..69393575)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (70681553..70745870)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:70544083-70545282 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 3 Neighboring gene ATXN8 opposite strand (non-protein coding) repeat instability region Neighboring gene LUC7 like 3 pre-mRNA splicing factor pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:70829090-70829790 Neighboring gene RNA, U6 small nuclear 54, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:71204047-71205022 Neighboring gene uncharacterized LOC105370255 Neighboring gene VISTA enhancer hs126 Neighboring gene VISTA enhancer hs540

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. Factor SA, et al. Ann Neurol, 2005 Mar. PMID 15732096
    2. lncRNA ATXN8OS promotes breast cancer by sequestering miR‑204. Deng Z, et al. Mol Med Rep, 2019 Aug. PMID 31173245, Free PMC Article
    3. Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects. Hu Y, et al. J Neurol Sci, 2017 Nov 15. PMID 29111027
    4. Internal ribosome entry segment activity of ATXN8 opposite strand RNA. Chen IC, et al. PLoS One, 2013. PMID 24040107, Free PMC Article
    5. Long non-coding RNA ATXN8OS promotes ferroptosis and inhibits the temozolomide-resistance of gliomas through the ADAR/GLS2 pathway. Luo J, et al. Brain Res Bull, 2022 Aug. PMID 35460867

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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?
    8. Molecular genetics of spinocerebellar ataxia type 8.
      Title: Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
    9. 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.
    10. 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, Gaucher Disease
    		not available
    Spinocerebellar ataxia type 8
    MedGen: C1837454 OMIM: 608768 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 8
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    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.

    Genomic

    1. NG_016173.1 RefSeqGene

      Range
      5001..37541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. NR_002717.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391

    2. NR_185834.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391
      Related
      ENST00000678624.1

    3. NR_185835.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391
      Related
      ENST00000717782.1

    4. NR_185836.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391

    5. NR_185837.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391

    6. NR_185838.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391

    7. NR_185839.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391
      Related
      ENST00000660386.1

    8. NR_185840.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391

    9. NR_185841.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391
      Related
      ENST00000424524.3

    10. NR_185842.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160391
      Related
      ENST00000665905.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      70107421..70171738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      69329292..69393575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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