CKDdb-logoCKDdb - Molecule ID A4597

geneBLOC1S2, BLOS2, CEAP
nameBiogenesis of lysosome-related organelles complex 1 subunit 2
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BL1S2_HUMANQ6QNY1ENSG00000196072282991Hs.34906609768

Functions and classifications

GOC:BLOC-1 complex, C:centrosome, C:gamma-tubulin complex, C:mitochondrion, C:nucleus, C:recycling endosome, F:gamma-tubulin binding, P:anterograde axon cargo transport, P:anterograde synaptic vesicle transport, P:extrinsic apoptotic signaling pathway via death domain receptors, P:melanosome organization, P:microtubule nucleation, P:mitochondrial outer membrane permeabilization, P:neuron projection development, P:platelet dense granule organization, P:positive regulation of cell proliferation, P:positive regulation of transcription from RNA polymerase II promoter, P:positive regulation of transcription, DNA-templated, P:positive regulation of transcription, DNA-dependent, P:regulation of apoptotic process"
UniProtAcetylation, Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Polymorphism, Reference proteome
PADBCS: Cell shape (cytoskeleton, cell adhesion, morphology, cell junction, cellular structures, extracellular matrix)

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.499.10E-04RNA microarray26317775

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