CKDdb-logoCKDdb - Molecule ID A471F

geneBBS12
nameBardet-Biedl syndrome 12 protein
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BBS12_HUMANQ6ZW61ENSG00000181004166379Hs.400698209900, 610683

Functions and classifications

GOC:cilium, F:ATP binding, P:cellular protein metabolic process, P:chaperone-mediated protein complex assembly, P:negative regulation of fat cell differentiation
UniProtBardet-Biedl syndrome, Cell projection, Ciliopathy, Cilium, Complete proteome, Disease mutation, Mental retardation, Obesity, Polymorphism, Reference proteome, ATP-binding, Chaperone, Nucleotide-binding
PADBDIS: disease

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.458.98E-04RNA microarray26317775

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