CKDdb-logoCKDdb - Molecule ID A4422

geneBEST1, VMD2
nameBestrophin 1
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BEST1_HUMANO76090ENSG000001679957439Hs.524910153700, 193220, 607854, 608161, 611809, 613194, 153870

Functions and classifications

GOC:basolateral plasma membrane, C:chloride channel complex, C:cytosol, C:integral component of membrane, F:chloride channel activity, P:detection of light stimulus involved in visual perception, P:regulation of calcium ion transport, P:transepithelial chloride transport, P:visual perception, C:integral to membrane
UniProtAlternative splicing, Calcium, Cell membrane, Chloride, Chloride channel, Complete proteome, Disease mutation, Ion channel, Ion transport, Membrane, Phosphoprotein, Polymorphism, Reference proteome, Retinitis pigmentosa, Sensory transduction, Transmembrane, Transmembrane helix, Transport, Vision
PADBchannel

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.450.00137RNA microarray19698090
Exp21752957aHomo sapiens22kidneytubuliDiabetes (diabetic kidney disease)0.31< 0.05RNA microarray21752957
Exp21752957aHomo sapiens22kidneytubuliDiabetes (diabetic kidney disease)0.32< 0.05RNA microarray21752957
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.411.84E-03RNA microarray26317775
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)3.43.29E-03RNA microarray26317775

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