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 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; chr12:111890018-112037480 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATXN2

Alleles and phenotypes

All alleles(43) : Targeted(5) Gene trapped(38)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (21 annotations)

Process	cerebellar Purkinje cell differentiation, cytoplasmic mRNA processing body assembly, ...
Component	cytoplasm, cytoplasmic stress granule, ...
Function	epidermal growth factor receptor binding, protein C-terminus binding

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (90)    Tissues (33)    Images (19)
Theiler Stages: 12, 14, 16, 18, 20, 21, 22, 23, 24, 28

Assay Type	Results
Immunohistochemistry	12
RNA in situ	42
Northern blot	17
Western blot	4
RT-PCR	15

cDNA source data(20)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(25) Genomic(1) cDNA(22) Primer pair(2)
Microarray probesets(8)

Other database links

VEGA Gene Model	OTTMUSG00000034728 (Evidence)
Ensembl Gene Model	ENSMUSG00000042605 (Evidence)
Entrez Gene	20239 (Evidence)
Consensus CDS Project	CCDS39250.1
International Mouse Knockout Project Status	Atxn2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034728	VEGA Gene Model | MGI Sequence Detail	105157	C57BL/6J
transcript	OTTMUST00000088229	VEGA | MGI Sequence Detail	4471	Not Applicable
polypeptide	OTTMUSP00000048071	VEGA | MGI Sequence Detail	1286	Not Applicable

All sequences(77) RefSeq(2) UniProt(11)

Polymorphisms

SNPs(54 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(44)

Other accession IDs

MGI:2141216, MGI:2444884