ATXN8OS (ATXN8 opposite strand lncRNA)

Gene Gene information from NCBI Gene database.
Gene Other IDs Protein Pathways Associated diseases
Entrez ID 6315
Gene name ATXN8 opposite strand lncRNA
Gene symbol ATXN8OS
Synonyms (NCBI Gene)
KLHL1ASNCRNA00003SCA8
Chromosome 13
Chromosome location 13q21.33
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 trans
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603680 10561 ENSG00000230223
Protein Protein information from UniProt database.
Gene Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DMR3
Protein name Putative protein ATXN8OS (ATXN8 opposite strand) (Spinocerebellar ataxia 8) (kelch-like 1 antisense)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in brain (PubMed:10192387). Expressed in muscle tissues (at protein level). {ECO:0000269|PubMed:10192387, ECO:0000269|PubMed:24040107}.
Sequence 
MPCPGAPCCSLVATGSRVPFSGLKEEEEEDGEDDEEEEEEGFFQKVLTPLLSWLLSRRLW
LGPQCSKLPLPSCCRQPPPAGPPVEGDGWLKSFQRSRRMCFTSKSFRPEPDMLYAQKAKG
WQLTQDSGGWEVQDQCTRIWSKENLLALNTHSRRQKGKRENKVCVSTWQKSRGDRTYSSM
ATTPSMTKILEGCMYRKLKC
Sequence length 200
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Other IDs Protein Pathways Associated diseases
  KEGG 
  Spinocerebellar ataxia  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Gene Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATXN8OS-related disorder Likely benign; Benign rs997755716, rs906054166, rs17751306, rs61964572, rs5002471, rs538173757, rs1186729821, rs302018, rs112128542, rs1340799857 RCV003921462
RCV003921767
RCV003919604
RCV003974108
RCV003919497
RCV003951612
RCV003914443
RCV003979317
RCV003981842
RCV003976377
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 31554751
Breast Neoplasms Associate 33477683
Cerebellar Ataxia Associate 31554751
Cerebellar Diseases Associate 31554751
Essential Tremor Associate 26077168
Neoplasms Associate 33477683
Spinocerebellar Ataxias Associate 31554751, 33502644, 37482381
Spinocerebellar Degenerations Associate 31554751
Supranuclear Palsy Progressive Associate 37482381