Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LOC109461478 Gene

Aliases for LOC109461478 Gene

  • ATXN8 Opposite Strand (Non-Protein Coding) Repeat Instability Region 3
  • Spinocerebellar Ataxia Type 8 Repeat Instability Region 3
  • ATXN8OS Repeat Instability Region 3
  • SCA8 Repeat Instability Region 3

External Ids for LOC109461478 Gene

Summaries for LOC109461478 Gene

Entrez Gene Summary for LOC109461478 Gene

  • This biological region is found near the 3' end of the ATXN8 opposite strand (non-protein coding) gene on the q arm of chromosome 13. This region contains a highly polymorphic (CTG)n trinucleotide repeat that is adjacent to a stably transmitted, but polymorphic, (CTA)n repeat. Expansions of the CTG repeat can be associated with spinocerebellar ataxia type 8, an autosomal dominant disorder. Most normal alleles contain about 15-50 triplet repeat units, but repeat lengths of greater than 1300 repeat units have been observed in some expanded alleles. Reduced penetrance is observed for some alleles, and is more commonly seen amongst alleles with less than 100 repeats. Paternal transmission of the allele is biased towards contractions of the repeat while maternal transmissions are biased towards expansion of the repeat. Both toxicity of transcripts with the expanded allele, and repeat-associated non-ATG translation (RAN translation) have been implicated in disease pathogenesis. [provided by RefSeq, Dec 2016]

GeneCards Summary for LOC109461478 Gene

LOC109461478 (ATXN8 Opposite Strand (Non-Protein Coding) Repeat Instability Region) is a Biological Region gene.

Additional gene information for LOC109461478 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC109461478 Gene

Genomics for LOC109461478 Gene

Genomic Locations for LOC109461478 Gene

Genomic Locations for LOC109461478 Gene
chr13:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109461478 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC109461478 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC109461478 Gene

Proteins for LOC109461478 Gene

Post-translational modifications for LOC109461478 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109461478 Gene

Domains & Families for LOC109461478 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC109461478 Gene

Function for LOC109461478 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC109461478 Gene

Localization for LOC109461478 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC109461478 Gene

Pathways & Interactions for LOC109461478 Gene

PathCards logo

SuperPathways for LOC109461478 Gene

No Data Available

Interacting Proteins for LOC109461478 Gene

Gene Ontology (GO) - Biological Process for LOC109461478 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC109461478 Gene

Drugs & Compounds for LOC109461478 Gene

No Compound Related Data Available

Transcripts for LOC109461478 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109461478 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109461478 Gene

Expression for LOC109461478 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC109461478 Gene

Orthologs for LOC109461478 Gene

No data available for Orthologs and Evolution for LOC109461478 Gene

Paralogs for LOC109461478 Gene

No data available for Paralogs for LOC109461478 Gene

Variants for LOC109461478 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC109461478 Gene

Disorders for LOC109461478 Gene

No disorders were found for LOC109461478 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109461478 Gene

Publications for LOC109461478 Gene

  1. Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation. (PMID: 23711133) Yokoyama T … Yagishita S (Neuropathology : official journal of the Japanese Society of Neuropathology 2014) 3 58
  2. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. (PMID: 22872568) Musova Z … Zumrova A (Cerebellum (London, England) 2013) 3 58
  3. Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease. (PMID: 24285970) Kim JS … Cho JW (Journal of clinical neurology (Seoul, Korea) 2013) 3 58
  4. Repeat-associated non-ATG (RAN) translation in neurological disease. (PMID: 23918658) Cleary JD … Ranum LP (Human molecular genetics 2013) 3 58
  5. Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. (PMID: 22297462) Koutsis G … Panas M (Journal of neurology 2012) 3 58

No data available for External Links for LOC109461478 Gene

Products for LOC109461478 Gene

Sources for LOC109461478 Gene

Content
Loading form....