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Gene: ATXN2 (ataxin 2) Homo sapiens
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Symbol: ATXN2
Name: ataxin 2
Description: Exhibits epidermal growth factor receptor binding activity and protein C-terminus binding activity. Involved in cytoplasmic mRNA processing body assembly; negative regulation of receptor internalization; and stress granule assembly. Localizes to several cellular components, including cytoplasmic stress granule; polysome; and trans-Golgi network. Implicated in late onset Parkinson's disease and spinocerebellar ataxia type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ASL13; ataxin-2; ATX2; FLJ46772; SCA2; spinocerebellar ataxia type 2 protein; TNRC13; trinucleotide repeat containing 13; trinucleotide repeat-containing gene 13 protein
Orthologs:
Mus musculus (house mouse) : Atxn2 (ataxin 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Atxn2 (ataxin 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Atxn2 (ataxin 2)
Pan paniscus (bonobo/pygmy chimpanzee) : ATXN2 (ataxin 2)
Canis lupus familiaris (dog) : ATXN2 (ataxin 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Atxn2 (ataxin 2)
Sus scrofa (pig) : ATXN2 (ataxin 2)
Chlorocebus sabaeus (African green monkey) : ATXN2 (ataxin 2)
Heterocephalus glaber (naked mole-rat) : Atxn2 (ataxin 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl12111,443,485 - 111,599,676 (-)EnsemblGRCh38hg38GRCh38
GRCh3812111,452,214 - 111,599,676 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712111,890,018 - 112,037,480 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612110,374,401 - 110,521,863 (-)NCBINCBI36hg18NCBI36
Build 3412110,352,737 - 110,500,200NCBI
Celera12111,516,452 - 111,663,853 (-)NCBI
Cytogenetic Map12q24.12NCBI
HuRef12108,904,559 - 109,051,670 (-)NCBIHuRef
CHM1_112111,857,982 - 112,005,420 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on ATXN2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1347160
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.