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Aliases for ATXN8OS Gene

Subcategory (RNA class) for ATXN8OS Gene

antisense

Quality Score for this RNA gene is

3.2

Aliases for ATXN8OS Gene

  • ATXN8 Opposite Strand (Non-Protein Coding) 2 3
  • KLHL1AS 3 4 6
  • SCA8 3 4 6
  • Non-Protein Coding RNA 3 2 3
  • Spinocerebellar Ataxia 8 2 4
  • Kelch-Like 1 Antisense 3 4
  • Kelch-Like 1 Antisense (Drosophila) 2
  • Ataxin 8 Opposite Strand 3
  • ATXN8 Opposite Strand 4
  • NCRNA00003 3

External Ids for ATXN8OS Gene

ORGUL Members for ATXN8OS Gene

Previous Symbols for ATXN8OS Gene

  • SCA8
  • KLHL1AS

Summaries for ATXN8OS Gene

Entrez Gene Summary for ATXN8OS 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 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]

GeneCards Summary for ATXN8OS Gene

ATXN8OS (ATXN8 Opposite Strand (Non-Protein Coding)) is a RNA Gene, and belongs to antisense RNA class. Diseases associated with ATXN8OS include spinocerebellar ataxia 8 and spinocerebellar ataxia 1.

Gene Wiki entry for ATXN8OS Gene

fRNAdb sequence ontologies for ATXN8OS Gene

  • nc_conserved_region: Non-coding region of sequence similarity by descent from a common ancestor.

View fRNAdb secondary structures for ATXN8OS

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for ATXN8OS Gene

Genomics for ATXN8OS Gene

Genomic Location for ATXN8OS Gene

Start:
70,107,213 bp from pter
End:
70,139,753 bp from pter
Size:
32,541 bases
Orientation:
Plus strand

Genomic View for ATXN8OS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATXN8OS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN8OS Gene

Regulatory Elements for ATXN8OS Gene

Transcription factor binding sites by QIAGEN in the ATXN8OS gene promoter:

ORGUL Member Location for ATXN8OS Gene

ORGUL Member Location for ATXN8OS gene

Proteins for ATXN8OS Gene

  • Protein details for ATXN8OS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DMR3-AT8OS_HUMAN
    Recommended name:
    Putative protein ATXN8OS
    Protein Accession:
    P0DMR3
    Secondary Accessions:

    Protein attributes for ATXN8OS Gene

    Size:
    200 amino acids
    Molecular mass:
    22759 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ATXN8OS Gene

Proteomics data for ATXN8OS Gene at MOPED

Post-translational modifications for ATXN8OS Gene

No Post-translational modifications

No data available for DME Specific Peptides for ATXN8OS Gene

Domains for ATXN8OS Gene

Gene Families for ATXN8OS Gene

HGNC:
  • LNCRNA :Long non-coding RNAs

Protein Domains for ATXN8OS Gene

ProtoNet:
genes like me logo Genes that share domains with ATXN8OS: view

No data available for UniProtKB/Swiss-Prot for ATXN8OS Gene

Function for ATXN8OS Gene

Phenotypes for ATXN8OS Gene

genes like me logo Genes that share phenotypes with ATXN8OS: view

Animal Models for ATXN8OS Gene

MGI Knock Outs for ATXN8OS:

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting and HOMER Transcription for ATXN8OS Gene

Localization for ATXN8OS Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN8OS Gene

Cytoplasm.

No data available for Gene Ontology (GO) - Cellular Components for ATXN8OS Gene

Pathways for ATXN8OS Gene

SuperPathways for ATXN8OS Gene

No Data Available

Interacting Proteins for ATXN8OS Gene

Gene Ontology (GO) - Biological Process for ATXN8OS Gene

None

No data available for Pathways by source for ATXN8OS Gene

Transcripts for ATXN8OS Gene

fRNAdb Secondary structures for ATXN8OS Gene

  • FR160065

mRNA/cDNA for ATXN8OS Gene

(1) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATXN8OS Gene

ATXN8 opposite strand (non-protein coding):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN8OS Gene

No ASD Table

Relevant External Links for ATXN8OS Gene

GeneLoc Exon Structure for
ATXN8OS
ECgene alternative splicing isoforms for
ATXN8OS

Expression for ATXN8OS Gene

mRNA expression in normal human tissues for ATXN8OS Gene

mRNA differential expression in normal tissues according to GTEx for ATXN8OS Gene

This gene is overexpressed in Brain - Substantia nigra (19.5) and Brain - Hypothalamus (10.0).

SOURCE GeneReport for Unigene cluster for ATXN8OS Gene Hs.676453

mRNA Expression by UniProt/SwissProt for ATXN8OS Gene

P0DMR3-AT8OS_HUMAN
Tissue specificity: Expressed in brain (PubMed:10192387). Expressed in muscle tissues (at protein level).
genes like me logo Genes that share expressions with ATXN8OS: view

Orthologs for ATXN8OS Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for ATXN8OS Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Atxn8os 16
Species with no ortholog for ATXN8OS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ATXN8OS Gene

ENSEMBL:
Gene Tree for ATXN8OS (if available)
TreeFam:
Gene Tree for ATXN8OS (if available)

Paralogs for ATXN8OS Gene

No data available for Paralogs for ATXN8OS Gene

Variants for ATXN8OS Gene

Sequence variations from dbSNP and Humsavar for ATXN8OS Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs149583 -- 70,133,741(+) cagcc(A/G)ttggg intron-variant
rs159607 -- 70,134,211(+) TGTAA(A/G)TTACA intron-variant
rs159917 -- 70,118,333(+) TTACT(A/G)GGAAA intron-variant
rs167255 -- 70,134,573(+) CAGCC(A/G)ACAGG intron-variant
rs169979 -- 70,134,678(+) TCCTG(A/C)ATAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN8OS Gene

Variant ID Type Subtype PubMed ID
nsv455967 CNV Loss 19166990

Relevant External Links for ATXN8OS Gene

HapMap Linkage Disequilibrium report
ATXN8OS
Human Gene Mutation Database (HGMD)
ATXN8OS

Disorders for ATXN8OS Gene

(1) OMIM Diseases for ATXN8OS Gene (603680)

(4) Novoseek inferred disease relationships for ATXN8OS Gene

Disease -log(P) Hits PubMed IDs
sca12 95.6 6
spinocerebellar ataxias 89.6 2
friedreich ataxia 79.8 2
neurodegenerative diseases 61.8 1

Relevant External Links for ATXN8OS

GeneTests
ATXN8OS
GeneReviews
ATXN8OS
Genetic Association Database (GAD)
ATXN8OS
Human Genome Epidemiology (HuGE) Navigator
ATXN8OS
genes like me logo Genes that share disorders with ATXN8OS: view

No data available for UniProtKB/Swiss-Prot for ATXN8OS Gene

Publications for ATXN8OS Gene

  1. Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. (PMID: 12140678) Brusco A. … Orsi L. (J. Neurol. 2002) 3 23 49
  2. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. (PMID: 14960773) SuA8ek A. … Zaremba J. (J. Appl. Genet. 2004) 3 23 49
  3. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 23 49
  4. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (PMID: 10192387) Koob M.D. … Ranum L.P. (Nat. Genet. 1999) 2 3 4
  5. Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. (PMID: 11708995) Cellini E. … Sorbi S. (Arch. Neurol. 2001) 3 49

Products for ATXN8OS Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ATXN8OS
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN8OS
    • Block miRNA regulation of ATXN8OS using miScript Target Protectors

    Sources for ATXN8OS Gene

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