CKDdb-logoCKDdb - Molecule ID A5524

geneATXN2, ATX2, SCA2
nameAtaxin-2
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ATX2_HUMANQ99700ENSG000002048426311Hs.76253183090, 601517

Functions and classifications

GOC:cytoplasmic stress granule, C:Golgi apparatus, C:nucleus, C:perinuclear region of cytoplasm, C:polysome, C:trans-Golgi network, F:RNA binding, P:cell death, P:cerebellar Purkinje cell differentiation, P:cytoplasmic mRNA processing body assembly, P:homeostasis of number of cells, P:negative regulation of multicellular organism growth, P:negative regulation of receptor internalization, P:neuromuscular process, P:neuron projection morphogenesis, P:regulation of translation, P:RNA metabolic process, P:RNA transport, P:stress granule assembly, C:cytoplasm
UniProt3D-structure, Alternative splicing, Amyotrophic lateral sclerosis, Complete proteome, Cytoplasm, Neurodegeneration, Parkinsonism, Phosphoprotein, Polymorphism, Reference proteome, Spinocerebellar ataxia, Triplet repeat expansion
PADBtranscription and translation, gene regulation

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.490.000326RNA microarray19698090
Exp21752957bHomo sapiens22kidneytubuliDiabetes (diabetic kidney disease)0.33< 0.05RNA microarray21752957
Exp26317775bHomo sapiens8kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.170.014185RNA microarray26317775

Compile date 08-10-2018© iMODE-CKD consortium