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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Chromosome 9 Β· 9q34.11
NCBI Gene: 8818Ensembl: ENSG00000136908.19HGNC: HGNC:3006UniProt: O94777
19PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingenzyme activator activityendoplasmic reticulum membraneglycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complexcongenital muscular dystrophy with intellectual disability and severe epilepsycongenital disorder of glycosylationcongenital disorder of glycosylation type Idengue disease
✦AI Summary

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2) is a regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex located in the endoplasmic reticulum 1. As a regulatory protein, DPM2 is essential for the stable expression and correct subcellular localization of the catalytic DPM1 subunit, with DPM2 stabilizing DPM3, which in turn stabilizes DPM1 2. DPM2 also enhances binding of dolichol phosphate substrate and increases DPM synthase activity approximately 10-fold 1. Beyond its canonical role in dolichol phosphate-mannose biosynthesis, DPM2 participates in the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, contributing to GPI anchor biosynthesis 3. Pathologically, mutations in DPM2 cause congenital disorder of glycosylation 1U, a genetic disease affecting protein glycosylation. Additionally, a DPM2 genetic locus (DPM2-FAM102A rs3739821) shows significant association with primary angle closure glaucoma susceptibility 4. Recent evidence suggests DPM2 may function as an oncogene in breast cancer, with high expression correlating with poor prognosis and its transcriptional activation by estrogen receptor 1 5.

Sources cited
1
DPM2 is essential for ER localization and stable expression of DPM1, enhances dolichol phosphate binding, and increases DPM synthase activity 10-fold
PMID: 9724629
2
Human DPM synthase consists of three subunits; DPM2 stabilizes DPM3 which stabilizes DPM1, and DPM2 plays a role in enzymatic activity
PMID: 10835346
3
DPM2 is part of the GPI-GnT complex that catalyzes transfer of N-acetylglucosamine in GPI biosynthesis
PMID: 16162815
4
DPM2-FAM102A locus shows significant association with primary angle closure glaucoma (OR=1.15, P=8.32Γ—10⁻¹²)
PMID: 27064256
5
DPM2 functions as an oncogene in breast cancer with high expression correlating with shorter overall and disease-free survival, and is transcriptionally activated by ESR1
PMID: 38050961
Disease Associationsβ“˜21
congenital muscular dystrophy with intellectual disability and severe epilepsyOpen Targets
0.78Strong
congenital disorder of glycosylationOpen Targets
0.54Moderate
congenital disorder of glycosylation type IOpen Targets
0.50Moderate
dengue diseaseOpen Targets
0.46Moderate
lens diseaseOpen Targets
0.17Weak
cataractOpen Targets
0.09Suggestive
MODYOpen Targets
0.05Suggestive
primary angle closure glaucomaOpen Targets
0.05Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
dilated cardiomyopathy 1IOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 5Open Targets
0.03Suggestive
hyperlipoproteinemia type VOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
readingOpen Targets
0.02Suggestive
rectal adenocarcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
Congenital disorder of glycosylation 1UUniProt
Pathogenic Variants9
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)Pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_003863.4(DPM2):c.147T>A (p.Tyr49Ter)Pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜…β˜†β˜†β˜†2025β†’ Residue 49
NM_003863.4(DPM2):c.29del (p.Gly10fs)Pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜…β˜†β˜†β˜†2024β†’ Residue 10
NM_003863.4(DPM2):c.37del (p.Leu13fs)Pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜…β˜†β˜†β˜†2023β†’ Residue 13
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)Pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜…β˜†β˜†β˜†2023β†’ Residue 37
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)Likely pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜…β˜†β˜†β˜†β†’ Residue 66
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)Pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜†β˜†β˜†β˜†2021β†’ Residue 58
NM_003863.4(DPM2):c.4-1G>CPathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜†β˜†β˜†β˜†2012
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)Pathogenic
Congenital muscular dystrophy with intellectual disability and severe epilepsy
β˜†β˜†β˜†β˜†2012β†’ Residue 23
View on ClinVar β†—
Related Genes
PIGAProtein interaction100%PIGCProtein interaction100%PIGHProtein interaction100%PIGPProtein interaction100%PIGQProtein interaction100%FKRPProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
80%
Liver
79%
Lung
69%
Ovary
59%
Heart
29%
Gene Interaction Network
Click a node to explore
DPM2PIGAPIGCPIGHPIGPPIGQFKRP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O94777
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.68 [0.39–1.27]
RankingsWhere DPM2 stands among ~20K protein-coding genes
  • #14,412of 20,598
    Most Researched19
  • #3,000of 5,498
    Most Pathogenic Variants9
  • #13,431of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedDPM2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Genetics of glaucoma.
PMID: 28505344
Hum Mol Genet Β· 2017
0.90
3
Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.
PMID: 10835346
EMBO J Β· 2000
0.80
4
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
PMID: 27064256
Nat Genet Β· 2016
0.70
5
PMID: 20301507
0.60