DNM3: Dynamin 3 - Key Regulator of Membrane Fission and Endocytosis
Comprehensive gene card for DNM3, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | DNM3 |
|---|---|
| Full Name | dynamin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.3 |
| NCBI Gene ID | 26052 ncbi.nlm.nih.gov/gene/26052 |
| Ensembl ID | ENSG00000197959 |
| UniProt ID | Q9UQ16 |
| OMIM ID | 611445 |
| HGNC ID | 2913 |
| Aliases | DYN3, DYNIII, dynamin-3 |
Description
DNM3 (dynamin 3) encodes a member of the dynamin family of large GTPases, which are involved in membrane fission during endocytosis and vesicle trafficking. Dynamin 3 is expressed predominantly in the brain, testis, and heart, and plays a role in synaptic vesicle recycling and receptor-mediated endocytosis. Alternative splicing generates multiple isoforms with distinct tissue-specific functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 31 | De novo missense mutations in DNM3 impair GTPase activity and disrupt synaptic vesicle endocytosis, leading to neuronal hyperexcitability. | ClinVar, OMIM |
| Charcot-Marie-Tooth disease, axonal, type 2T | Heterozygous mutations in DNM3 cause peripheral neuropathy through altered dynamin function and impaired axonal transport. | OMIM |
| Schizophrenia (susceptibility) | Genetic association studies link DNM3 variants to altered synaptic plasticity and increased risk for schizophrenia. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.4 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HeLa (cervical carcinoma) | 2.3 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118G>A (p.Gly40Arg) | Missense | Rare | Impaired GTPase activity; associated with epileptic encephalopathy |
| c.1492C>T (p.Arg498Cys) | Missense | Rare | Dominant-negative effect; linked to Charcot-Marie-Tooth disease type 2T |
| c.1960G>A (p.Val654Met) | Missense | Rare | Reduced endocytosis; reported in schizophrenia cohorts |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GTPase domain (e.g., p.Gly40Arg) reduce GTP hydrolysis, impairing membrane fission.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for DNM3.
Dominant Negative (DN)
Mutations such as p.Arg498Cys in the middle domain exert dominant-negative effects, disrupting dynamin oligomerization and endocytosis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Synaptic vesicle cycle (KEGG: hsa04721)
• Endocytosis (KEGG: hsa04144)
Protein Summary
Dynamin 3 is a 869-amino acid GTPase that self-assembles into helical structures around the necks of budding vesicles, facilitating membrane fission. It contains an N-terminal GTPase domain, a middle domain, a pleckstrin homology (PH) domain that binds phosphoinositides, and a C-terminal proline-rich domain (PRD) that interacts with SH3 domain-containing proteins. The protein is essential for clathrin-mediated endocytosis in neurons and other cell types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNM3 Knockout HEK293 Cell Line | EDJ-KQ1727 | Human | 26052 | Details Get a Quote |
| DNM3 Knockout A-549 Cell Line | EDJ-KQ20217 | Human | 26052 | Details Get a Quote |
| DNM3 Knockout HCT 116 Cell Line | EDJ-KQ21568 | Human | 26052 | Details Get a Quote |
| DNM3 Knockout HeLa Cell Line | EDJ-KQ21569 | Human | 26052 | Details Get a Quote |
| Dnm3os Knockout NIH 3T3 Cell Line | EDJ-KZ189 | Mouse | 474332 | Details Get a Quote |
