EDEM2
ER Degradation Enhancing Alpha-Mannosidase Like Protein 2
Gene Information Card
| Symbol | EDEM2 |
|---|---|
| Full Name | ER Degradation Enhancing Alpha-Mannosidase Like Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 55741 ncbi.nlm.nih.gov/gene/55741 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9BV94 |
| OMIM ID | 610227 |
| HGNC ID | 28967 |
| Aliases | C20orf31, FLJ10769, MGC2650 |
Description
EDEM2 encodes a protein that is a member of the glycosyl hydrolase 47 family. It is involved in the endoplasmic reticulum-associated degradation (ERAD) pathway, specifically in the recognition and targeting of misfolded glycoproteins for degradation. EDEM2 acts as an alpha-1,2-mannosidase that trims mannose residues from N-glycans, accelerating the degradation of misfolded proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II | Impaired ERAD due to EDEM2 deficiency leads to accumulation of misfolded glycoproteins | PMID: 25691535 |
| Cancer (various) | Altered EDEM2 expression may affect protein quality control and tumor progression | PMID: 29593339 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Kidney | 7.1 | Low |
| Testis | 6.8 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HeLa | 9.8 | Cervical adenocarcinoma cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
| K562 | 5.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the catalytic domain impair ERAD activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • mannosyl-oligosaccharide 1 (GO:0004571) |
| • endoplasmic reticulum (GO:0005783) | • protein quality control for misfolded proteins (GO:0006515) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• N-glycan trimming in the ER
Protein Summary
EDEM2 is a 578-amino acid protein localized to the endoplasmic reticulum. It functions as an alpha-1,2-mannosidase that removes specific mannose residues from N-linked glycans on misfolded proteins, targeting them for ERAD. The protein contains a mannosidase-like domain and a C-terminal domain involved in substrate recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDEM2 Knockout HEK293 Cell Line | EDJ-KQ12476 | Human | 55741 | Details Get a Quote |
| EDEM2 Knockout A-549 Cell Line | EDJ-KQ42655 | Human | 55741 | Details Get a Quote |
| EDEM2 Knockout HCT 116 Cell Line | EDJ-KQ42656 | Human | 55741 | Details Get a Quote |
| EDEM2 Knockout HeLa Cell Line | EDJ-KQ42657 | Human | 55741 | Details Get a Quote |
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