DRP2: Dystrophin Related Protein 2
A member of the dystrophin family involved in neuronal development and peripheral myelination
Gene Information Card
| Symbol | DRP2 |
|---|---|
| Full Name | dystrophin related protein 2 |
| Gene Type | protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 1821 ncbi.nlm.nih.gov/gene/1821 |
| Ensembl ID | ENSG00000102316 |
| UniProt ID | Q13474 |
| OMIM ID | 300522 |
| HGNC ID | 3070 |
| Aliases | DMDL, DRP2, dystrophin-like |
Description
DRP2 (dystrophin related protein 2) is a protein-coding gene located on the X chromosome. It encodes a member of the dystrophin family, which includes dystrophin and utrophin. The DRP2 protein is primarily expressed in the nervous system, particularly in Schwann cells and neurons, where it plays a role in peripheral nerve myelination and maintenance of the nodal and paranodal regions. Mutations in DRP2 have been associated with Charcot-Marie-Tooth disease type 6 (CMT6) and other peripheral neuropathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 6 (CMT6) | Loss-of-function mutations in DRP2 disrupt Schwann cell-axon interactions, impairing myelination and nodal integrity. | ClinVar, OMIM |
| Peripheral neuropathy | DRP2 variants may alter protein localization at the paranodal junctions, leading to demyelination. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Peripheral nerve | 12.3 | High |
| Spinal cord | 6.2 | Low |
| Heart | 1.1 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.8 | Neuronal model |
| U-87 MG (glioblastoma) | 4.2 | Glial model |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119C>T (p.Pro40Leu) | Missense | Rare | Alters protein stability; associated with CMT6 |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated DRP2 protein, disrupting its role in paranodal junctions and myelination.
Gain of Function (GOF)
No gain-of-function mutations reported for DRP2.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by interfering with dystrophin family complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of cytoskeleton (GO:0005200) | • cytoskeleton (GO:0005856) |
| • plasma membrane (GO:0005886) | • myelin sheath (GO:0043209) |
| • axon ensheathment (GO:0008366) |
Pathways
• Dystrophin-associated glycoprotein complex
• Schwann cell myelination signaling
Protein Summary
DRP2 is a 957-amino acid protein belonging to the dystrophin family. It contains an N-terminal actin-binding domain, a central rod domain with spectrin-like repeats, and a C-terminal domain that interacts with dystroglycan and other membrane proteins. In the peripheral nervous system, DRP2 localizes to the paranodal loops of myelinating Schwann cells, where it stabilizes the axoglial junction. Its expression is enriched in brain and peripheral nerve tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRP2 Knockout HEK293 Cell Line | EDJ-KQ4485 | Human | 1821 | Details Get a Quote |
| DRP2 Knockout HeLa Cell Line | EDJ-KQ53118 | Human | 1821 | Details Get a Quote |
| DRP2 Knockout A-549 Cell Line | EDJ-KQ61591 | Human | 1821 | Details Get a Quote |
| DRP2 Knockout HCT 116 Cell Line | EDJ-KQ70081 | Human | 1821 | Details Get a Quote |
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