DPM2 across dismech

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory) is named by 2 disorder entries.

Normal function

ai-gene-review describes DPM2 as the non-catalytic, regulatory subunit of dolichol-phosphate-mannose synthase, with core molecular function enzyme activator activity, acting in dolichol phosphate mannose biosynthetic process; and dolichol-linked oligosaccharide biosynthetic process at the endoplasmic reticulum membrane. The catalytic mannosyltransfer itself is carried out by DPM1; DPM2 stabilizes the complex and raises its activity.

Causative records

Two entries type DPM2 as causative, DPM2-congenital disorder of glycosylation; Dystroglycanopathy, and both record the variants as germline (DPM2-congenital disorder of glycosylation; Dystroglycanopathy). In DPM2-congenital disorder of glycosylation the gene sits on the node DPM Synthase Complex Destabilization, and ClinGen rates the gene-disease relationship moderate. In Dystroglycanopathy the DPM2 record is scoped to that entry's DPM2-related subtype, and nodes naming DPM2 there conform to the module pial_basement_membrane_radial_glial_endfoot_failure, carrying the process protein O-linked glycosylation via mannose.

Where the layers agree and disagree

ClinGen classifies DPM2 for 1 disease, and no dismech entry matched to it leaves the gene untyped (0). The KB process on DPM2's nodes is a downstream consequence (O-mannosylation of alpha-dystroglycan), not one of the biosynthetic processes ai-gene-review lists, so the two layers share 0 GO process terms by identifier. They are consistent: Dol-P-Man made by the synthase that DPM2 activates is the mannose donor for O-mannosylation.