Atxn2 - ataxin 2 Gene

Also Known as ATX2; Sca2; 9630045M23Rik

生物種: Mus musculus

遺伝子タイプ: protein coding
遺伝子ID: 20239

Summary

Predicted to enable RNA binding activity; epidermal growth factor receptor binding activity; and protein C-terminus binding activity. Acts upstream of or within several processes, including homeostasis of number of cells; neuromuscular process; and neuron differentiation. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; liver; sensory organ; and spleen. Used to study spinocerebellar ataxia type 2. Human ortholog(s) of this gene implicated in late onset Parkinson's Disease and spinocerebellar ataxia type 2. Orthologous to human ATXN2 (ataxin 2). [provided by Alliance of Genome Resources, Apr 2022]

Atxn2 Products (2)

mRNA Protein Name
NM_001359153.1 NP_001346082.1 ataxin-2 isoform 2
NM_009125.2 NP_033151.2 ataxin-2 isoform 1
Molecular Function GO Annotation Evidence 参考文献 由来
NOT enables DNA binding domain binding IDA
IDA: Inferred from direct assay
9668173 MGI
Biological Process GO Annotation Evidence 参考文献 由来
acts upstream of or within cerebellar Purkinje cell differentiation IMP
IMP: Inferred from mutant phenotype
10973246 MGI
acts upstream of or within homeostasis of number of cells IMP
IMP: Inferred from mutant phenotype
10973246 MGI
acts upstream of or within negative regulation of multicellular organism growth IMP
IMP: Inferred from mutant phenotype
16293225 MGI
acts upstream of or within neuromuscular process IMP
IMP: Inferred from mutant phenotype
10973246 MGI
acts upstream of or within neuron projection morphogenesis IMP
IMP: Inferred from mutant phenotype
10973246 MGI
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytoplasm IDA
IDA: Inferred from direct assay
10973246 MGI
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
9668173 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ataxin-2

  • spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)

  • spinocerebellar ataxia 2 homolog

  • spinocerebellar ataxia type 2 protein homolog

Orthologs Information

生物種 Symbol 由来 ID
Homo sapiens Atxn2 NCBI NCBI:6311