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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EDEM3
ER degradation enhancing alpha-mannosidase like protein 3
Chromosome 1 · 1q25.3
NCBI Gene: 80267Ensembl: ENSG00000116406.20HGNC: HGNC:16787UniProt: A0A8J8YX80
49PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mannosyl-oligosaccharide 1,2-alpha-mannosidase activityERAD pathwayendoplasmic reticulum mannose trimmingendoplasmic reticulum unfolded protein responsecongenital disorder of glycosylation, type 2vcongenital disorder of glycosylationShort staturesystemic lupus erythematosus
✦AI Summary

EDEM3 is an ER-localized α-1,2-mannosidase that plays a crucial role in endoplasmic reticulum-associated degradation (ERAD) by facilitating the disposal of misfolded glycoproteins 1. The protein catalyzes mannose trimming from M8B oligosaccharides to produce M7, M6, and M5 structures, creating determinant signals that target glycoproteins for proteasomal degradation 1. EDEM3 consists of four functional domains (GH47, intermediate, protease-associated, and intrinsically disordered) that cooperatively regulate substrate binding, folding, and protein turnover timing 2. Beyond ERAD, EDEM3 maintains ER homeostasis by attenuating the unfolded protein response and exhibits pro-survival functions 34. Clinically, EDEM3 overexpression is associated with multiple cancers including prostate, ovarian, and hepatocellular carcinoma, correlating with poor prognosis and therapy resistance 453. In cancer contexts, EDEM3 promotes radioresistance in prostate cancer 4, facilitates M2-like macrophage polarization contributing to immunotherapy resistance 6, and supports viral replication in hepatitis B infection 3. The protein's cytoprotective role against ER stress makes it a potential therapeutic target for sensitizing tumors to treatment.

Sources cited
1
EDEM3 is responsible for mannose trimming from M8B to produce M7, M6, and M5 oligosaccharides in ERAD
PMID: 34698634
2
EDEM3 has four functional domains that cooperatively regulate substrate binding and protein turnover
PMID: 33671632
3
EDEM3 attenuates unfolded protein response and has pro-survival roles in hepatocellular carcinoma
PMID: 39838427
4
EDEM3 overexpression is linked to poor survival and promotes radioresistance in prostate cancer
PMID: 35897761
5
COPB2 facilitates EDEM3-mediated mannose trimming to sustain ER homeostasis in ovarian cancer
PMID: 40736660
6
EDEM3 facilitates M2-like macrophage polarization and contributes to immunotherapy resistance
PMID: 39754316
Disease Associationsⓘ21
congenital disorder of glycosylation, type 2vOpen Targets
0.77Strong
congenital disorder of glycosylationOpen Targets
0.40Weak
Short statureOpen Targets
0.32Weak
systemic lupus erythematosusOpen Targets
0.31Weak
bronchiectasisOpen Targets
0.31Weak
retinal degenerationOpen Targets
0.29Weak
exostosisOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.22Weak
placenta praeviaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Abnormal male internal genitalia morphologyOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.10Weak
neoplasmOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
digestive system neoplasmOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
systemic inflammatory response syndromeOpen Targets
0.06Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
smoking cessationOpen Targets
0.06Suggestive
Congenital disorder of glycosylation 2VUniProt
Pathogenic Variants15
NM_025191.4(EDEM3):c.793C>T (p.Arg265Ter)Likely pathogenic
Congenital disorder of glycosylation, type 2v
★☆☆☆2025→ Residue 265
NM_025191.4(EDEM3):c.1942C>T (p.Arg648Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 648
NM_025191.4(EDEM3):c.346-1G>APathogenic
not provided
★☆☆☆2023
NM_025191.4(EDEM3):c.1090del (p.Asp364fs)Likely pathogenic
Congenital disorder of glycosylation, type 2v
★☆☆☆2022→ Residue 364
NM_025191.4(EDEM3):c.848del (p.Arg283fs)Pathogenic
Congenital disorder of glycosylation, type 2v
★☆☆☆→ Residue 283
NM_025191.4(EDEM3):c.1407T>A (p.Tyr469Ter)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 469
NM_025191.4(EDEM3):c.1382_1385del (p.Phe461fs)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 461
NM_025191.4(EDEM3):c.182A>G (p.Asp61Gly)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 61
NM_025191.4(EDEM3):c.1366G>A (p.Asp456Asn)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 456
NM_025191.4(EDEM3):c.853+1G>TPathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021
NM_025191.4(EDEM3):c.1859del (p.Ile620fs)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 620
NM_025191.4(EDEM3):c.2001dup (p.Ala668fs)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 668
NM_025191.4(EDEM3):c.1369del (p.Arg457fs)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 457
NM_025191.4(EDEM3):c.940A>T (p.Arg314Ter)Pathogenic
Congenital disorder of glycosylation, type 2v
☆☆☆☆2021→ Residue 314
NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)Likely pathogenic
Short stature
☆☆☆☆2001→ Residue 402
View on ClinVar ↗
Related Genes
CANXProtein interaction95%HSP90B1Protein interaction93%MAN2A1Protein interaction91%SERPINA1Protein interaction85%SEL1LProtein interaction85%OS9Protein interaction85%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
76%
Lung
75%
Heart
65%
Brain
51%
Ovary
37%
Gene Interaction Network
Click a node to explore
EDEM3CANXHSP90B1MAN2A1SERPINA1SEL1LOS9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BZQ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.41–0.67]
RankingsWhere EDEM3 stands among ~20K protein-coding genes
  • #8,939of 20,598
    Most Researched49
  • #2,464of 5,498
    Most Pathogenic Variants15
  • #4,949of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedEDEM3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
IL8 and EDEM3 gene expression ratio indicates peripheral blood mononuclear cell (PBMC) quality.
PMID: 30496732
J Immunol Methods · 2019
1.00
2
Disrupting EDEM3-induced M2-like macrophage trafficking by glucose restriction overcomes resistance to PD-1/PD-L1 blockade.
PMID: 39754316
Clin Transl Med · 2025
0.90
3
Glycoprotein folding and the role of EDEM1, EDEM2 and EDEM3 in degradation of folding-defective glycoproteins.
PMID: 17499246
FEBS Lett · 2007
0.80
4
Pro-Survival Factor EDEM3 Confers Therapy Resistance in Prostate Cancer.
PMID: 35897761
Int J Mol Sci · 2022
0.70
5
Purified EDEM3 or EDEM1 alone produces determinant oligosaccharide structures from M8B in mammalian glycoprotein ERAD.
PMID: 34698634
Elife · 2021
0.60