DPM2 Gene
Dolichol-Phosphate Mannosyltransferase Subunit 2
Gene Information Card
| Symbol | DPM2 |
|---|---|
| Full Name | Dolichol-Phosphate Mannosyltransferase Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 8818 ncbi.nlm.nih.gov/gene/8818 |
| Ensembl ID | ENSG00000136936 |
| UniProt ID | O94777 |
| OMIM ID | 603566 |
| HGNC ID | 3006 |
| Aliases | DPM2, DPM2 subunit, dolichol-phosphate mannosyltransferase subunit 2 |
Description
The DPM2 gene encodes a subunit of the dolichol-phosphate mannosyltransferase (DPM) complex, which catalyzes the synthesis of dolichol-phosphate mannose (Dol-P-Man) from GDP-mannose and dolichol-phosphate. Dol-P-Man is a critical donor of mannose residues in the biosynthesis of N-glycans, GPI anchors, and O-mannosyl glycans. Mutations in DPM2 cause congenital disorder of glycosylation type Iu (CDG-Iu), a multisystem disorder affecting the nervous system and other organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type Iu (CDG-Iu) | Loss-of-function mutations in DPM2 impair Dol-P-Man synthesis, leading to defective N-glycosylation and GPI anchor biosynthesis. | OMIM #615042; ClinVar; multiple case reports |
| DPM2-related intellectual disability and epilepsy | Reduced DPM complex activity disrupts neuronal glycosylation, contributing to neurodevelopmental phenotypes. | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 3.8 | Low |
| Heart | 4.1 | Low |
| Kidney | 4.5 | Low |
| Testis | 6.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Low expression |
| HeLa | 3.5 | Low expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.68A>G (p.Asn23Ser) | Missense | Rare | Likely loss of function; associated with CDG-Iu |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; reported in CDG-Iu |
| c.68A>T (p.Asn23Ile) | Missense | Rare | Likely loss of function; reported in CDG-Iu |
Mutation functional classification
Loss of Function (LOF)
Most reported DPM2 mutations are loss-of-function, reducing DPM complex activity and Dol-P-Man synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: N-Glycan biosynthesis (hsa00510)
• KEGG: GPI-anchor biosynthesis (hsa00563)
• Reactome: Dolichol-phosphate mannose biosynthesis (R-HSA-446193)
Protein Summary
DPM2 is a small transmembrane protein (84 amino acids) that serves as a regulatory subunit of the dolichol-phosphate mannosyltransferase complex. It stabilizes the catalytic subunit DPM1 and anchors the complex to the endoplasmic reticulum membrane. Loss of DPM2 function leads to reduced Dol-P-Man levels, impairing multiple glycosylation pathways and causing congenital disorder of glycosylation type Iu.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPM2 Knockout HEK293 Cell Line | EDJ-KQ3642 | Human | 8818 | Details Get a Quote |
| DPM2 Knockout A-549 Cell Line | EDJ-KQ25597 | Human | 8818 | Details Get a Quote |
| DPM2 Knockout HCT 116 Cell Line | EDJ-KQ25598 | Human | 8818 | Details Get a Quote |
| DPM2 Knockout HeLa Cell Line | EDJ-KQ25599 | Human | 8818 | Details Get a Quote |
