CKDdb-logoCKDdb - Molecule ID A0007

geneACTN2
nameAlpha-actinin 2
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ACTN2_HUMANP35609ENSG0000007752288Hs.498178102573, 612158

Functions and classifications

GOC:actin filament, C:cytosol, C:dendritic spine, C:extracellular region, C:filopodium, C:focal adhesion, C:platelet alpha granule lumen, C:pseudopodium, C:Z disc, F:calcium ion binding, F:FATZ binding, F:integrin binding, F:protein dimerization activity, F:structural constituent of muscle, F:thyroid hormone receptor coactivator activity, P:focal adhesion assembly, P:microspike assembly, P:muscle filament sliding, P:negative regulation of potassium ion transmembrane transporter activity, P:negative regulation of potassium ion transport, P:negative regulation of protein localization to cell surface, P:platelet activation, P:platelet degranulation, P:positive regulation of potassium ion transmembrane transporter activity, P:positive regulation of potassium ion transport, P:positive regulation of receptor activity, P:protein homotetramerization, P:regulation of apoptotic process, P:regulation of membrane potential, P:regulation of RNA biosynthetic process, P:synaptic transmission, P:muscle contraction, C:cortical actin cytoskeleton, P:actin crosslink formation, P:actin filament bundle assembly
UniProt3D-structure, Actin-binding, Calcium, Cardiomyopathy, Complete proteome, Cytoplasm, Disease mutation, Metal-binding, Polymorphism, Reference proteome, Repeat, Ubl conjugation, Phosphoprotein
PADBCell shape (cytoskeleton, cell adhesion, morphology, cell junction, cellular structures, extracellular matrix)

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090aHomo sapiens17bloodmononuclear cellsChronic_Renal_Insufficiency (Chronic kidney disease)2.980.0096759RNA microarray19698090
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.230.00000101RNA microarray19698090
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.260.00142RNA microarray19698090
Exp21752957aHomo sapiens22kidneytubuliDiabetes (diabetic kidney disease)0.32< 0.05RNA microarray21752957
Exp23757392bRattus norvegicus13kidneywholeDiabetes (diabetic nephropathy)3.1< 0.05RNA-seq23757392

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