CKDdb-logoCKDdb - Molecule ID A4586

geneARVCF
nameArmadillo repeat protein deleted in velo-cardio-facial syndrome
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ARVC_HUMANO00192ENSG00000099889421Hs.713616602269

Functions and classifications

GOC:cytoplasm, C:intracellular, C:nucleus, C:plasma membrane, P:calcium-dependent cell-cell adhesion, P:cell adhesion, P:multicellular organismal development
UniProtAlternative splicing, Cell adhesion, Coiled coil, Complete proteome, Phosphoprotein, Polymorphism, Reference proteome, Repeat
PADBCell shape (cytoskeleton, cell adhesion, morphology, cell junction, cellular structures, extracellular matrix)

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19136817Mus musculus10kidneyglomeruliUrination_Disorders (proteinuria)0.540.00364RNA microarray19136817
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.280.0000729RNA microarray19698090
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.450.00768RNA microarray19698090
Exp22266139Homo sapiens kidneyproximal tubule epithelial cellsDiabetes (diabetic nephropathy)0.451.94E-09NGS, RNA-seq.22266139
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)2.535.13E-04RNA microarray26317775
Exp26317775bHomo sapiens8kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)4.190.013196RNA microarray26317775

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