DNM2
Chr 19ADARdynamin 2
Also known as: CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5
DNM2 encodes dynamins that function as GTP-binding proteins involved in endocytosis and cytoskeletal interactions through self-assembly and GTPase activity. Mutations cause centronuclear myopathy 1, Charcot-Marie-Tooth disease (axonal type 2M and dominant intermediate B), and lethal congenital contracture syndrome 5 through both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves loss of function, reflecting the protein's essential role in membrane dynamics and cellular structure.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DNM2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools