ATXN8 Gene
protein-coding GIFtS: 23
GCID: GC13U900338
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ataxin 8
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Aliases
for ATXN8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
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| Aliases |
|---|
| Ataxin 81 2 | | Protein 1C22 3 | | ATXN32 | | Ataxin-81 |
Export aliases for ATXN8 gene to outside databases |
Summaries
for ATXN8 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 ATXN8:
Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeatexpansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and areexpressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAGdirection, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al.,2006}).(supplied by OMIM, Mar 2010)
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Genomic Views
for ATXN8 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
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for ATXN8
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATXN8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN8 |
Genomic Location:
Chromosome:13
Entrez Gene cytogenetic band: 13q21 HGNC cytogenetic band: 13q21.33GeneLoc information about chromosome 13 |
Proteins
for ATXN8 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/Swiss-Prot: ATX8_HUMAN, Q156A1 (See
protein sequence)Recommended Name: Ataxin-8 Size: 80 amino acids; 10272 Da
Subcellular location: Nucleus. Note=Present in SCA8-specific 1C2-positive intranuclear inclusions
Miscellaneous: It is unknown whether this protein exists in non-SCA8 individualsExplore the universe of human proteins at neXtProt for ATXN8: NX_Q156A1
ATXN8 Protein expression data from MOPED and PaxDb: --
Human Recombinant Protein Products for ATXN8:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005634 | nucleus |
IEA | -- |
ATXN8 for ontologies About GeneDecksing
ATXN8 Antibody Products:
Assay Products for ATXN8: |
Protein
Domains /
Families
for ATXN8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q156A1 |
Function
for ATXN8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Animal Models:
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN8 |
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Pathways & Interactions
for ATXN8 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
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATXN8
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0008219 | cell death |
IEA | -- |
ATXN8 for ontologies About GeneDecksing
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Drugs & Compounds
for ATXN8 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 ATXN8
Search CenterWatch for drugs/clinical trials and news about ATXN8 / ATX8 
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Transcripts
for ATXN8 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,
Sirion Biotech,
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
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Unigene Cluster for ATXN8: Ataxin 8 Hs.645205 Unigene Representative Sequence: DQ641254
Additional cDNA sequence: DQ641254.1
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Expression
for ATXN8 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
| ATXN8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACTGTGAG
About this image
SOURCE GeneReport for Unigene cluster: Hs.645205
UniProtKB/Swiss-Prot: ATX8_HUMAN, Q156A1Tissue specificity: Specifically found in brains from SCA8 patients (at protein level)
SABiosciences Custom PCR Arrays for ATXN8
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat ATXN8 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN8 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN8 |
Orthologs
for ATXN8 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
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--
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Paralogs
for ATXN8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ATXN8 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
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UniProtKB/Swiss-Prot: ATX8_HUMAN, Q156A1Polymorphism: The length of the poly-Gln expansion is variable and may contain one or more interruptions that introducearginines into the polyglutamine repeat tract
Human Gene Mutation Database (HGMD): ATXN8
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for ATXN8 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
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ATXN8 for disorders About GeneDecksing
OMIM gene information: 613289
OMIM disorders: 608768
UniProtKB/Swiss-Prot: ATX8_HUMAN, Q156A1
Defects in ATXN8 are the cause of spinocerebellar ataxia type 8 (SCA8) [MIM:608768]. Spinocerebellar ataxia isa clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination ofgait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum withvariable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It iscaused by a CAG repeat expansion in ATXN8, which is translated into a nearly pure polyglutamine protein which forms1C2-positive inclusions in Purkinje cells and other neurons
5  diseases for ATXN8: About MalaCardsspinocerebellar ataxia ataxia machado-joseph disease spinocerebellar ataxia type 8
cerebellar ataxia
GeneTests: ATXN8
Spinocerebellar Ataxia Type 8
Human Genome Epidemiology (HuGE) Navigator: ATXN8 (2 documents)
Export disorders for ATXN8 gene to outside databases
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Publications
for ATXN8 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
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PubMed articles for ATXN8 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ATXN8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. (PubMed id 16804541)1, 2, 3 Moseley M.L.... Ranum L.P.W. (2006)
- Clinical and genetic features of spinocerebellar atax ia type 8. (PubMed id 21827909)1 Ikeda Y....Day J.W. (2012)
- Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion. (PubMed id 22297462)1 Koutsis G....Panas M. (2012)
- Detection of large expansions in SCA8 using a fluores cent repeat-primed PCR assay. (PubMed id 22053702)1 Tanaka E....Kawakami H. (2011)
- Increased transcript diversity: novel splicing varian ts of Machado-Joseph disease gene (ATXN3). (PubMed id 19714377)1 Bettencourt C....Lima M. (2010)
- SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications. (PubMed id 19229559)1 Wu Y.R....Chen C.M. (2009)
- Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. (PubMed id 19203395)1 Chen I.C....Lee-Chen G.J. (2009)
- The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. (PubMed id 19259763)1 Wardle M....Robertson N.P. (2009)
- Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes. (PubMed id 18418692)1 Ikeda Y....Ranum L.P. (2008)
- Spinocerebellar Ataxia Type 8 (PubMed id 20301445)1 Ikeda Y....Ranum L.P.W. (1993)
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External Searches for ATXN8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing ATXN8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing ATXN8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATXN8 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
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| Name | Description |
| PharmGKB entry for ATXN8 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN8 |
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About This Section
| Patent Information for ATXN8 gene:
Search GeneIP for patents involving ATXN8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATXN8 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATXN8 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN8 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN8 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN8 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN8 |
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| | | | Search Tocris compounds for ATXN8 |
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 | | | ATXN8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN8 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for ATXN8 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ATXN8 |
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