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ATXN8 opposite strand (non-protein coding)(Previous names: spinocerebellar ataxia 8, kelch-like 1 antisense (Drosophila)...)
(Previous symbols: SCA8, KLHL1AS)
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Aliases
for ATXN8OS gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
Subcategory (RNA class): lncRNA
Quality score for this RNA gene is 8
| Aliases |
|---|
| ATXN8 Opposite Strand (Non-Protein Coding)1 2 | | KLHL1AS1 2 5 | | SCA81 2 5 | | NCRNA000031 2 | | Kelch-Like 1 Antisense (Drosophila)1 | | Spinocerebellar Ataxia 81 |
| External Ids: | HGNC: 105611 | Entrez Gene: 63152 | Ensembl: ENSG000002302237 | OMIM: 6036805 | | ORGUL members: | |
|---|
| NONCODE:n343052 n373776 | |
Export aliases for ATXN8OS gene to outside databasesPrevious GC identifers: GC13P069579 GC13P051383
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Summaries
for ATXN8OS gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATXN8OS:
This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itselfappear 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 normalantisense function of this transcript. (provided by RefSeq, Oct 2008)
Gene Wiki entry for ATXN8OS
|
Genomic Views
for ATXN8OS gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000013.10 NC_018924.1 NT_024524.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATXN8OS gene promoter:
TBP TFIID Nkx2-5
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATXN8OS
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN8OS |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 13q21 Ensembl cytogenetic band: 13q21.33 HGNC cytogenetic band: 13q21ATXN8OS Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 13 GeneLoc Exon Structure GeneLoc location for GC13P070681: view genomic region
(about GC identifiers)
Start:
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70,681,345 bp from pter |
End:
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70,713,885 bp from pter |
Size:
|
32,541 bases |
Orientation:
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plus strand |
ORGUL member locations:
Legend (see complete legend)
70681344 70697615 70713885 chr13
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Proteins
for ATXN8OS gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB: --
|
Protein
Domains /
Families
for ATXN8OS gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| -- |
Function
for ATXN8OS gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN8OS |
Animal Models:
Mouse knock-out Klhl1/Atxn8osKlhl1/tm1.1Mdk for ATXN8OS
2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Atxn8os):
ATXN8OS for phenotypes About GeneDecksing
|
Pathways & Interactions
for ATXN8OS gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATXN8OS
|
Drugs & Compounds
for ATXN8OS gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ATXN8OS
Search CenterWatch for drugs/clinical trials and news about ATXN8OS 
|
Transcripts
for ATXN8OS gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
Unigene Cluster for ATXN8OS: ATXN8 opposite strand (non-protein coding) Hs.676453 [show with all ESTs]Unigene Representative Sequence: AF1267492 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000424524 ENST00000414504(uc010aej.1)
Additional cDNA sequence: AF126749.1 3 DOTS entries: DT.95293922 DT.205884 DT.75199492
GeneLoc Exon Structure
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Expression
for ATXN8OS gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| Expression evidence for ATXN8OS:NONCODE
ATXN8OS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGAAGAGC
About this image
Genevestigator expression for ATXN8OS
SOURCE GeneReport for Unigene cluster: Hs.676453
SABiosciences Custom PCR Arrays for ATXN8OS
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN8OS
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat ATXN8OS | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN8OS | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN8OS | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN8OS |
Orthologs
for ATXN8OS gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of human and mouse.
Orthologs for ATXN8OS gene from 1 species (see representative species ) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Atxn8os5 |
ATXN8 opposite strand |
-- |
|
14 - |
ENSEMBL Gene Tree for ATXN8OS (if available)
TreeFam Gene Tree for ATXN8OS (if available) |
Paralogs
for ATXN8OS gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ATXN8OS gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 13 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATXN8OS (70681345 - 70713885 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATXN8OS: --
Human Gene Mutation Database (HGMD): ATXN8OS
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN8OS |
|
Disorders
/ Diseases
for ATXN8OS gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATXN8OS for disorders About GeneDecksing
OMIM gene information: 603680
OMIM disorders: 608768
9  diseases for ATXN8OS: About MalaCardsspinocerebellar ataxia spinocerebellar ataxia type 8 ataxia machado-joseph disease
friedreich ataxia multiple system atrophy neurodegenerative disease parkinson's disease
schizophrenia
4 Novoseek disease relationships for ATXN8OS gene About this table
GeneTests: ATXN8OS
Spinocerebellar Ataxia Type 8
Genetic Association Database (GAD): ATXN8OS
Human Genome Epidemiology (HuGE) Navigator: ATXN8OS (12 documents)
Export disorders for ATXN8OS gene to outside databases
|
Publications
for ATXN8OS gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATXN8OS gene, integrated from 9 sources (see all 29):
(articles sorted by number of sources associating them with ATXN8OS) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. (PubMed id 14960773)1, 4, 9 Sul/ek A....Zaremba J. (2004)
- Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. (PubMed id 12140678)1, 4, 9 Brusco A....Orsi L. (2002)
- Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. (PubMed id 16804541)1, 3 Moseley M.L.... Ranum L.P.W. (2006)
- Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia. (PubMed id 16054804)1, 4 Chen C.M....Lee-Chen G.J. (2005)
- Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. (PubMed id 14966165)1, 4 Zeman A....Warner J. (2004)
- Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)1, 4 Brusco A....Taroni F. (2004)
- SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. (PubMed id 12545428)1, 4 Izumi Y....Kawakami H. (2003)
- SCA8 in the Spanish population including one homozygous patient. (PubMed id 12431257)1, 4 Tazon B....Mila M. (2002)
- Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? (PubMed id 11807410)1, 4 Savic D....Romac S. (2001)
- Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. (PubMed id 11708995)1, 4 Cellini E....Sorbi S. (2001)
|
External Searches for ATXN8OS gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATXN8OS gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATXN8OS gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATXN8OS gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ATXN8OS | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATXN8OS gene:
Search GeneIP for patents involving ATXN8OS
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATXN8OS gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATXN8OS | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN8OS | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN8OS | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN8OS | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN8OS | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN8OS |
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 |  |  |  | |
| | | | Search Tocris compounds for ATXN8OS |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN8OS |
|  |  |  | | | | Search ThermoFisher Antibodies for ATXN8OS |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ATXN8OS |
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Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013
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