PMP2 (Peripheral Myelin Protein 2)
A key component of peripheral nervous system myelin, involved in Charcot-Marie-Tooth disease and other neuropathies.
Gene Information Card
| Symbol | PMP2 |
|---|---|
| Full Name | Peripheral Myelin Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 5375 ncbi.nlm.nih.gov/gene/5375 |
| Ensembl ID | ENSG00000147588 |
| UniProt ID | P02689 |
| OMIM ID | 170715 |
| HGNC ID | 9117 |
| Aliases | MGC116750, MGC116751, myelin P2 protein |
Description
The PMP2 gene encodes peripheral myelin protein 2 (P2), a small cytoplasmic protein that binds fatty acids and is a major structural component of peripheral nerve myelin. It is involved in myelin compaction and lipid transport in Schwann cells. Mutations in PMP2 cause Charcot-Marie-Tooth disease type 1G (CMT1G), a demyelinating peripheral neuropathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 1G (CMT1G) | Loss-of-function mutations in PMP2 disrupt myelin compaction and lipid binding, leading to peripheral nerve demyelination and axonal loss. | ClinVar, OMIM |
| Charcot-Marie-Tooth disease type 2 (axonal) | Some PMP2 variants are associated with axonal neuropathy, though the mechanism is less clear. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Peripheral nerve | High | High |
| Spinal cord | Moderate | Medium |
| Brain (cerebellum) | Low | Low |
| Adipose tissue | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Schwann cells | High | Primary cell type expressing PMP2 |
| SHSY5Y (neuroblastoma) | Low | Neuronal cell line |
| HEK293 | Not detected | Non-neuronal cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.435C>A (p.Tyr145*) | Nonsense | Rare | Loss of function; associated with CMT1G |
| c.380G>A (p.Arg127His) | Missense | Rare | Impaired lipid binding; associated with CMT1G |
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish protein expression or lipid-binding activity lead to demyelinating neuropathy (CMT1G).
Gain of Function (GOF)
No gain-of-function mutations have been reported for PMP2.
Dominant Negative (DN)
Some missense variants may exert a dominant-negative effect by interfering with myelin compaction, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • lipid binding (GO:0008289) | • transporter activity (GO:0005215) |
| • neuron maturation (GO:0042551) | • myelin sheath (GO:0043209) |
| • axon ensheathment (GO:0008366) |
Pathways
• KEGG: hsa04721 - Synaptic vesicle cycle (indirect)
• Reactome: R-HSA-1474244 - Extracellular matrix organization (indirect)
Protein Summary
Peripheral myelin protein 2 (P2) is a 132-amino acid cytoplasmic protein expressed in Schwann cells. It belongs to the fatty acid-binding protein (FABP) family and is essential for myelin compaction and lipid homeostasis in peripheral nerves. The protein adopts a beta-barrel structure that binds long-chain fatty acids. Mutations in PMP2 cause Charcot-Marie-Tooth disease type 1G, a progressive demyelinating neuropathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMP2 Knockout HEK293 Cell Line | EDJ-KQ5495 | Human | 5375 | Details Get a Quote |
| PMP22 Knockout HEK293 Cell Line | EDJ-KQ5496 | Human | 5376 | Details Get a Quote |
| PMP22 Knockout A-549 Cell Line | EDJ-KQ28728 | Human | 5376 | Details Get a Quote |
| PMP22 Knockout HCT 116 Cell Line | EDJ-KQ28729 | Human | 5376 | Details Get a Quote |
| PMP22 Knockout HeLa Cell Line | EDJ-KQ28730 | Human | 5376 | Details Get a Quote |
| PMP2 Knockout HeLa Cell Line | EDJ-KQ54164 | Human | 5375 | Details Get a Quote |
| PMP2 Knockout A-549 Cell Line | EDJ-KQ62660 | Human | 5375 | Details Get a Quote |
| PMP2 Knockout HCT 116 Cell Line | EDJ-KQ71127 | Human | 5375 | Details Get a Quote |
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