ATXN8OS (ATXN8 opposite strand lncRNA)

Gene
Gene Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6315
Gene name Gene Name - the full gene name approved by the HGNC.
ATXN8 opposite strand lncRNA
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN8OS
Synonyms (NCBI Gene) Gene synonyms aliases
KLHL1AS, NCRNA00003, SCA8
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603680 10561 ENSG00000230223
Protein
Gene Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease 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