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Atxn2
Gene Detail
Symbol

Name
ID
Atxn2
ataxin 2
MGI:1277223
Synonyms
9630045M23Rik, ATX2, Sca2
Feature Type
protein coding gene
Genetic Map
Chromosome 5
61.93 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:121711337-121816493 bp, + strand
From VEGA annotation of GRCm38

  105157 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2234  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Atxn2

Human
homologs
Human Homolog ATXN2, ataxin 2
NCBI Gene ID 6311
neXtProt AC  NX_Q99700
Human Synonyms  ASL13, ATX2, SCA2, TNRC13
Human Chr (Location)  12q24.1; chr12:111452214-111599676 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ATXN2
Mutations,
alleles, and
phenotypes
All mutations/alleles(44) : Gene trapped(38) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable.
 
Human Diseases Modeled Using Mouse Atxn2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Atxn2 interacts with 171 markers (Mir1b, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (90)    Tissues (33)    Images (19)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 12
RNA in situ 42
Northern blot 17
Western blot 4
RT-PCR 15
cDNA source data(20)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) Genomic(1) cDNA(22) Primer pair(2)
Microarray probesets(8)
Other database
links
VEGA Gene ModelOTTMUSG00000034728 (Evidence)
Ensembl Gene ModelENSMUSG00000042605 (Evidence)
Entrez Gene20239 (Evidence)
Consensus CDS ProjectCCDS39250.1
International Mouse Knockout Project StatusAtxn2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034728 VEGA Gene Model | MGI Sequence Detail 105157 C57BL/6J ±  kb
transcript OTTMUST00000088229 VEGA | MGI Sequence Detail 4471 Not Applicable 
polypeptide OTTMUSP00000048071 VEGA | MGI Sequence Detail 1286 Not Applicable 

For the selected sequences
All sequences(89) RefSeq(4) UniProt(21)
Polymorphisms
SNPs within 2kb(72 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009818 Ataxin-2, C-terminal
InterPro IPR010920 Like-Sm (LSM) domain
InterPro IPR009604 LsmAD domain
InterPro IPR025852 SM domain found in ataxin-2
Protein Ontology PR:000004505 ataxin-2
References
(Earliest) J:43214 Kawaguchi Y, et al., CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet. 1994 Nov;8(3):221-8
(Latest) J:191127 Hansen ST, et al., Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet. 2013 Jan 15;22(2):271-83
All references(45)
Disease annotation references (1)
Other
accession IDs
MGI:2141216, MGI:2444884

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory