Aliases for EDEM2 Gene
External Ids for EDEM2 Gene
Previous HGNC Symbols for EDEM2 Gene
Previous GeneCards Identifiers for EDEM2 Gene
In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]
GeneCards Summary for EDEM2 Gene
EDEM2 (ER Degradation Enhancing Alpha-Mannosidase Like Protein 2) is a Protein Coding gene. Diseases associated with EDEM2 include Epiphyseal Dysplasia, Multiple, 3 and Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is EDEM3.
UniProtKB/Swiss-Prot Summary for EDEM2 Gene
Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity).