ATXN8OS (ATXN8 opposite strand lncRNA)

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Gene Gene information from NCBI Gene database.
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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.
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MIM HGNC e!Ensembl
603680 10561 ENSG00000230223
Protein Protein information from UniProt database.
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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.
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KEGG Pathway
Spinocerebellar ataxia
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
ATXN8OS-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (54)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Ataxia Pubtator 31554751 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 10712199, 10813808, 12431257, 14756671, 15080863, 26077168, 29316893
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia LHGDN 12140678, 14756671, 18841561
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31173245
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33477683 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia Cerebellar ataxia Pubtator 31554751 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar Diseases BEFREE 14966165, 16037936
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar diseases Pubtator 31554751 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Deglutition Disorders Dysphagia BEFREE 18980793
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for ATXN8OS.

No additional diseases found yet through genes similar to ATXN8OS.