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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DPM3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Chromosome 1 Β· 1q22
NCBI Gene: 54344Ensembl: ENSG00000179085.9HGNC: HGNC:3007UniProt: A0A140VJI4
31PubMed Papers
22Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingenzyme activator activityendoplasmic reticulum membraneendoplasmic reticulumDPM3-congenital disorder of glycosylationmuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15congenital disorder of glycosylation type Idengue disease
✦AI Summary

DPM3 is a regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex located on the endoplasmic reticulum membrane 1. DPM3 stabilizes the catalytic DPM1 subunit through its C-terminal coiled-coil domain, tethering DPM1 to the ER membrane and preventing its proteasomal degradation 2. This tripartite complex (DPM1, DPM2, DPM3) generates mannosyl donors essential for N-glycosylation, O-mannosylation, and glycosylphosphatidylinositol anchor synthesis 1. Biallelic DPM3 mutations cause muscular dystrophy-dystroglycanopathy, characterized by deficient alpha-dystroglycan glycosylation and muscle weakness 3. Clinical presentations include limb-girdle muscular dystrophy with disease onset ranging from childhood to adulthood, dilated cardiomyopathy, and abnormal N-glycosylation profiles consistent with congenital disorder of glycosylation type 1 4. Recent evidence indicates DPM3 defects can also present with neuromuscular involvement, global developmental delay, intellectual disability, seizures, white matter abnormalities, and variable cardiomyopathy 5. Reduced O-mannosylation of alpha-dystroglycan and aberrant N-glycosylation of beta-dystroglycan in skeletal muscle characterize DPM3 pathology 6.

Sources cited
1
DPM3 is a subunit of human DPM synthase that stabilizes DPM1 and is involved in mannosyl donor synthesis for glycosylation pathways
PMID: 10835346
2
DPM3's C-terminal coiled-coil domain tethers DPM1 to the ER membrane; DPM1 is rapidly degraded by proteasome when DPM3 is absent
PMID: 16280320
3
DPM3 mutations identified in Chinese dystroglycanopathy cohort; mutations cause deficient glycosylation of alpha-dystroglycan
PMID: 33200426
4
DPM3 mutations present with limb-girdle muscular dystrophy, dilated cardiomyopathy, and abnormal N-glycosylation (CDG type 1 profile)
PMID: 31266720
5
Homozygous DPM3 variants cause muscle-brain disease with developmental delay, intellectual disability, seizures, white matter abnormalities, and variable cardiomyopathy
PMID: 35932216
6
DPM3 deficiency causes reduced O-mannosylation of alpha-dystroglycan and aberrant N-glycosylation of beta-dystroglycan in skeletal muscle
PMID: 30931530
Disease Associationsβ“˜22
DPM3-congenital disorder of glycosylationOpen Targets
0.80Strong
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15Open Targets
0.51Moderate
congenital disorder of glycosylation type IOpen Targets
0.50Moderate
dengue diseaseOpen Targets
0.46Moderate
congenital disorder of glycosylationOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
cardiomyopathyOpen Targets
0.27Weak
myopathyOpen Targets
0.27Weak
EMG: myopathic abnormalitiesOpen Targets
0.27Weak
retinitis pigmentosaOpen Targets
0.10Weak
age-related macular degenerationOpen Targets
0.09Suggestive
X-linked retinal dysplasiaOpen Targets
0.08Suggestive
Progressive cone dystrophyOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
goutOpen Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.06Suggestive
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15UniProt
Muscular dystrophy-dystroglycanopathy limb-girdle C15UniProt
Pathogenic Variants13
NM_153741.2(DPM3):c.54G>A (p.Trp18Ter)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2026β†’ Residue 18
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 14
NM_153741.2(DPM3):c.205del (p.Asp69fs)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 69
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2022β†’ Residue 44
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2022β†’ Residue 9
NM_153741.2(DPM3):c.5del (p.Thr2fs)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2021β†’ Residue 2
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2021β†’ Residue 82
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2021β†’ Residue 7
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)Pathogenic
DPM3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2020β†’ Residue 77
NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)Likely pathogenic
Myopathy;EMG: myopathic abnormalities;Cardiomyopathy
β˜…β˜†β˜†β˜†2015β†’ Residue 46
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)Pathogenic
DPM3-congenital disorder of glycosylation|Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
β˜†β˜†β˜†β˜†2020β†’ Residue 42
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)Pathogenic
DPM3-congenital disorder of glycosylation|Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
β˜†β˜†β˜†β˜†2020β†’ Residue 85
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)Pathogenic
DPM3-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2009β†’ Residue 85
View on ClinVar β†—
Related Genes
PIGVProtein interaction99%PIGMProtein interaction99%POMKProtein interaction98%DOLPP1Protein interaction96%DPAGT1Protein interaction96%ALG5Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
61%
Lung
56%
Brain
55%
Bone Marrow
44%
Heart
43%
Gene Interaction Network
Click a node to explore
DPM3PIGVPIGMPOMKDOLPP1DPAGT1ALG5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86TM7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.36LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.73 [0.41–1.36]
RankingsWhere DPM3 stands among ~20K protein-coding genes
  • #11,705of 20,598
    Most Researched31
  • #2,633of 5,498
    Most Pathogenic Variants13
  • #14,238of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedDPM3
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
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
PMID: 33200426
Clin Genet Β· 2021
0.90
3
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
0.80
4
Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.
PMID: 10835346
EMBO J Β· 2000
0.70
5
PMID: 20301507
0.60