ATXN8 (ataxin 8) - Rat Genome Database

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Gene: ATXN8 (ataxin 8) Homo sapiens
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Symbol: ATXN8
Name: ataxin 8
RGD ID: 1603419
HGNC Page HGNC:32925
Description: Predicted to be located in nucleus. Implicated in spinocerebellar ataxia type 8.
Type: protein-coding
Previously known as: ataxin-8; ATXN3; protein 1C2
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Genome Annotation Status: not in current annotation release
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic Map13q21NCBI


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:16804541   PMID:18418692   PMID:19203395   PMID:19229559   PMID:19259763   PMID:20301317   PMID:20301445   PMID:21827909   PMID:22053702   PMID:22297462   PMID:22577844   PMID:26002199  
PMID:28229454   PMID:34632710  


Genomics

.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NR_002717.2(ATXN8OS):n.1103CTG[15_40] microsatellite Spinocerebellar ataxia type 8 [RCV001260914] Chr13:70139384..70139386 [GRCh38]
Chr13:70713516..70713518 [GRCh37]
Chr13:13q21.33		 pathogenic|risk factor|benign
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)] microsatellite Parkinson disease, late-onset [RCV000006519]|Spinocerebellar ataxia type 8 [RCV000000215] Chr13:13q21.33 pathogenic|risk factor
Markers in Region
SCA8_SNP1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371370,713,376 - 70,713,475UniSTSGRCh37
Build 361369,611,377 - 69,611,476RGDNCBI36
Celera1351,615,446 - 51,615,545RGD
Cytogenetic Map13q21UniSTS
HuRef1351,415,395 - 51,415,494UniSTS
G64288  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q21UniSTS
Cytogenetic Map13q21UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
GenBank Nucleotide DQ641254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Protein Sequences
GenBank Protein ABG34539 (Get FASTA)   NCBI Sequence Viewer  
  Q156A1 (Get FASTA)   NCBI Sequence Viewer  

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q156A1-F1-model_v2 AlphaFold Q156A1 1-80 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC ATXN8 COSMIC
GTEx ATXN8 GTEx
HGNC ID HGNC:32925 ENTREZGENE
Human Proteome Map ATXN8 Human Proteome Map
NCBI Gene 724066 ENTREZGENE
OMIM 613289 OMIM
PharmGKB PA147358764 PharmGKB
UniProt ATX8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE