Version 5.4
Mus musculus Gene: Atxn2
Summary
InnateDB Gene IDBG-197634.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Atxn2
Gene Name ataxin 2
Synonyms 9630045M23Rik; ATX2; AW544490; Sca2
Species Mus musculus
Ensembl Gene ENSMUSG00000042605
Encoded Proteins
IDBP-197636
ataxin 2
IDBP-535507
ataxin 2
IDBP-532697
ataxin 2
IDBP-531933
ataxin 2
IDBP-536276
ataxin 2
IDBP-542664
ataxin 2
IDBP-537562
ataxin 2
IDBP-538149
ataxin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000204842:
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:121711337-121816493
Strand Forward strand
Band F
Transcripts
ENSMUST00000051950 ENSMUSP00000056715
ENSMUST00000162611
ENSMUST00000160813
ENSMUST00000161064 ENSMUSP00000124070
ENSMUST00000160821 ENSMUSP00000125647
ENSMUST00000159828
ENSMUST00000162327 ENSMUSP00000123784
ENSMUST00000161872
ENSMUST00000160093
ENSMUST00000162459
ENSMUST00000162995 ENSMUSP00000124403
ENSMUST00000161159 ENSMUSP00000123833
ENSMUST00000159928
ENSMUST00000160462 ENSMUSP00000124092
ENSMUST00000161836
ENSMUST00000161433
ENSMUST00000160220 ENSMUSP00000124059
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 38 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 38 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005154 epidermal growth factor receptor binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0002091 negative regulation of receptor internalization
GO:0021702 cerebellar Purkinje cell differentiation
GO:0033962 cytoplasmic mRNA processing body assembly
GO:0034063 stress granule assembly
GO:0040015 negative regulation of multicellular organism growth
GO:0048812 neuron projection morphogenesis
GO:0048872 homeostasis of number of cells
GO:0050905 neuromuscular process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005844 polysome
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0030529 ribonucleoprotein complex
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000204842
View Gene Order
ENSBTAG00000022069
Not yet available
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_4
EGFR1 pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.260900
RefSeq NM_009125
OMIM
CCDS CCDS39250
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca