DPM2

Protein identityUniProt · HPA

UniProt accession

O94777

Gene

DPM2

Ensembl

ENSG00000136908

Chromosome

9

Canonical length

84 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

84 residues, UniProt reviewed canonical sequence.

>O94777|DPM2
     1  MATGTDQVVG LGLVAVSLII FTYYTAWVIL LPFIDSQHVI HKYFLPRAYA VAIPLAAGLL
    61  LLLFVGLFIS YVMLKTKRVT KKAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.49

Highest tissue expression

81 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DPM2.

Disease | AllUniProt

Conditions DPM2 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1U (CDG1U) MIM:615042

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 138 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital muscular dystrophy with intellectual disability and severe epilepsy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.12

gnomAD pLI

0.32

gnomAD missense Z

0.6

DepMap mean gene effect

-0.35

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dolichol phosphate mannose biosynthetic process
• dolichol-linked oligosaccharide biosynthetic process
• dolichyl monophosphate biosynthetic process
• GPI anchor biosynthetic process

Molecular functions

• enzyme activator activity
• enzyme regulator activity

Cellular components

• dolichol-phosphate-mannose synthase complex
• endoplasmic reticulum
• endoplasmic reticulum membrane
• glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex

Protein domainsUniProt · Pfam · InterPro

• Dolichol phosphate-mannose biosynthesis regulatory
• Dolichol phosphate-mannose biosynthesis regulatory protein (DPM2)

KeywordsUniProt

• Congenital disorder of glycosylation
• Congenital muscular dystrophy
• Dystroglycanopathy
• Endoplasmic reticulum
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of DPM2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DPM3
• PIGA
• PIGC
• PIGQ