Human Gene EDEM2 (uc002xbo.2) Description and Page Index
Description: Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA. RefSeq Summary (NM_018217): 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]. Transcript (Including UTRs) Position: hg19 chr20:33,703,160-33,735,161 Size: 32,002 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr20:33,703,236-33,735,061 Size: 31,826 Coding Exon Count: 11
ID:EDEM2_HUMAN DESCRIPTION: RecName: Full=ER degradation-enhancing alpha-mannosidase-like 2; Flags: Precursor; FUNCTION: Involved in endoplasmic reticulum-associated degradation (ERAD) that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner. It lacks mannosidase activity. Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. SUBCELLULAR LOCATION: Secreted. Endoplasmic reticulum lumen. TISSUE SPECIFICITY: Expressed ubiquitously in all tissues tested with slightly higher levels detected in small intestine and peripheral blood leukocytes and weakest levels in brain and skeletal muscle. INDUCTION: Up-regulated by the unfolded protein response (UPR) via the XBP1 transcription factor. PTM: Glycosylated. SIMILARITY: Belongs to the glycosyl hydrolase 47 family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): EDEM2 CDC HuGE Published Literature: EDEM2 Positive Disease Associations: Protein C Related Studies:
Protein C Weihong Tang et al. Blood 2010, Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study., Blood.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BV94
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006491 N-glycan processing GO:0006986 response to unfolded protein GO:0030968 endoplasmic reticulum unfolded protein response GO:0036509 trimming of terminal mannose on B branch GO:0036510 trimming of terminal mannose on C branch GO:0036511 trimming of first mannose on A branch GO:0036512 trimming of second mannose on A branch GO:0097466 glycoprotein ERAD pathway GO:1904154 positive regulation of retrograde protein transport, ER to cytosol GO:1904382 mannose trimming involved in glycoprotein ERAD pathway