CKDdb-logoCKDdb - Molecule ID A043G

geneGJB2
nameGap junction beta-2 protein
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
CXB2_HUMANP29033ENSG000001654742706Hs.524894121011, 124500, 148210, 148350, 149200, 220290, 601544, 602540

Functions and classifications

GOC:connexon complex, C:endoplasmic reticulum-Golgi intermediate compartment, C:integral component of membrane, C:lateral plasma membrane, F:gap junction channel activity, P:cell-cell signaling, P:gap junction assembly, P:male genitalia development, P:sensory perception of sound, P:transmembrane transport, P:cell communication, C:integral to membrane, P:cellular membrane organization, P:transport
UniProt3D-structure, Cell junction, Cell membrane, Complete proteome, Deafness, Disease mutation, Disulfide bond, Ectodermal dysplasia, Gap junction, Hearing, Ichthyosis, Membrane, Non-syndromic deafness, Palmoplantar keratoderma, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix
PADBCell shape (cytoskeleton, cell adhesion, morphology, cell junction, cellular structures, extracellular matrix)

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp17003339aMus musculus24kidneyglomeruliDiabetes (diabetic nephropathy)0.49< 0.05cDNA microarray17003339
Exp17003339bMus musculus24kidneyglomeruliDiabetes (diabetic nephropathy)0.65< 0.05cDNA microarray17003339
Exp22266139Homo sapiens kidneyproximal tubule epithelial cellsDiabetes (diabetic nephropathy)0.340.01541738NGS, RNA-seq.22266139
Exp23757392aRattus norvegicus17kidneywholeDiabetes (diabetic nephropathy)0.41< 0.05RNA-seq23757392

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