Aliases for DNAJB2 Gene
External Ids for DNAJB2 Gene
Previous HGNC Symbols for DNAJB2 Gene
Previous GeneCards Identifiers for DNAJB2 Gene
This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
GeneCards Summary for DNAJB2 Gene
DNAJB2 (DnaJ Heat Shock Protein Family (Hsp40) Member B2) is a Protein Coding gene. Diseases associated with DNAJB2 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 and Dnajb2-Related Charcot-Marie-Tooth Disease Type 2. Among its related pathways are Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and Hsp70 protein binding. An important paralog of this gene is DNAJB6.
UniProtKB/Swiss-Prot Summary for DNAJB2 Gene
Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:7957263, PubMed:22219199). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278).