CKDdb-logoCKDdb - Molecule ID A5527

geneBSCL2
nameSeipin
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BSCL2_HUMANQ96G97ENSG0000016800026580Hs.533709269700, 270685, 600794, 606158

Functions and classifications

GOC:integral component of endoplasmic reticulum membrane, P:cell death, P:fat cell differentiation, P:lipid catabolic process, P:lipid particle organization, P:lipid storage, P:negative regulation of lipid catabolic process, C:integral to endoplasmic reticulum membrane
UniProtAlternative splicing, Complete proteome, Congenital generalized lipodystrophy, Diabetes mellitus, Disease mutation, Endoplasmic reticulum, Glycoprotein, Hereditary spastic paraplegia, Lipid degradation, Lipid metabolism, Membrane, Neurodegeneration, Reference proteome, Transmembrane, Transmembrane helix
PADBdevelopment, cell growth, differentiation, morphogenesis

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)2.010.003RNA microarray19698090
Exp24569379Mus musculus kidneyendothelial cellsAKI (AKI)0.410.00000112RNA microarray24569379
Exp26317775bHomo sapiens8kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)10.750.004091RNA microarray26317775

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