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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DRP2
dystrophin related protein 2
Chromosome X Β· Xq22.1
NCBI Gene: 1821Ensembl: ENSG00000102385.14HGNC: HGNC:3032UniProt: Q13474
14PubMed Papers
20Diseases
0Drugs
17Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
synaptic signalingplasma membranecentral nervous system developmentglutamatergic synapseCharcot-Marie-Tooth diseasehereditary motor and sensory neuropathyCharcot-Marie-Tooth disease X-linked dominant 1Charcot-Marie-Tooth disease type X
✦AI Summary

DRP2 (dystrophin related protein 2) is a component of the dystroglycan complex essential for normal myelination and Schwann cell organization in peripheral nerves 1. The protein is required for the formation of Cajal bands, which are cytoplasmic channels in myelinating Schwann cells, and for proper localization of periaxin at appositions between the myelin sheath and Schwann cell plasma membrane 1. DRP2 must interact with periaxin to form these critical appositions, and this interaction is necessary for DRP2 phosphorylation 1. Located on the X chromosome X Xq22, DRP2 is primarily expressed in brain and spinal cord tissues 2. Pathogenic variants in DRP2 cause X-linked Charcot-Marie-Tooth disease, characterized by late-onset sensory and motor neuropathy with intermediate conduction velocities in affected males, while heterozygous females remain asymptomatic 3. The absence of DRP2 leads to disrupted myelin appositions, abnormal myelin thickness, and focal hypermyelination followed by demyelination 1. The primary function of the DRP2-containing dystroglycan complex appears to be stabilizing and limiting radial myelin growth, making it crucial for proper peripheral nerve myelination 1.

Sources cited
1
DRP2 is required for Cajal band formation, periaxin interaction, and stabilizing myelin growth
PMID: 22764250
2
DRP2 is located on X chromosome at Xq22 and expressed primarily in brain and spinal cord
PMID: 8640231
3
DRP2 variants cause X-linked Charcot-Marie-Tooth disease with sex-specific phenotypes
PMID: 38513194
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Charcot-Marie-Tooth diseaseOpen Targets
0.35Weak
Charcot-Marie-Tooth disease type XOpen Targets
0.12Weak
Charcot-Marie-Tooth disease X-linked dominant 1Open Targets
0.12Weak
hereditary motor and sensory neuropathyOpen Targets
0.12Weak
X-linked Charcot-Marie-Tooth disease type 1Open Targets
0.12Weak
autismOpen Targets
0.11Weak
Global developmental delayOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.03Suggestive
Down syndromeOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
polyneuropathyOpen Targets
0.02Suggestive
Dravet syndromeOpen Targets
0.01Suggestive
Cerebral ischemiaOpen Targets
0.01Suggestive
psychosisOpen Targets
0.01Suggestive
ischemiaOpen Targets
0.01Suggestive
bipolar disorderOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
hypertrophic cardiomyopathyOpen Targets
0.01Suggestive
Pathogenic Variants17
NM_001939.3(DRP2):c.1294G>T (p.Glu432Ter)Pathogenic
not provided|Charcot-Marie-Tooth disease
β˜…β˜…β˜†β˜†2025β†’ Residue 432
NM_001939.3(DRP2):c.521del (p.Pro174fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 174
NM_001939.3(DRP2):c.2327del (p.Ser776fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 776
NM_001939.3(DRP2):c.379del (p.Ala127fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 127
NM_001939.3(DRP2):c.2065C>T (p.Arg689Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 689
NM_001939.3(DRP2):c.2114+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001939.3(DRP2):c.424A>T (p.Lys142Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 142
NM_001939.3(DRP2):c.1866-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001939.3(DRP2):c.958C>T (p.Arg320Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 320
NM_001939.3(DRP2):c.2356C>T (p.Gln786Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 786
NM_001939.3(DRP2):c.94C>T (p.Arg32Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 32
NM_001939.3(DRP2):c.2307del (p.Phe769fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 769
NM_001939.3(DRP2):c.1677_1698+44delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001939.3(DRP2):c.2158C>T (p.Arg720Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 720
NM_001939.3(DRP2):c.1738G>T (p.Glu580Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 580
NM_001939.3(DRP2):c.2350G>T (p.Glu784Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 784
NM_001939.3(DRP2):c.2512_2524del (p.Glu838fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 838
View on ClinVar β†—
Related Genes
PRXProtein interaction100%DAG1Protein interaction75%DYTNShared pathway33%ZIC5Shared pathway33%ZIC4Shared pathway33%SNTG2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
71%
Ovary
56%
Heart
5%
Lung
2%
Liver
2%
Gene Interaction Network
Click a node to explore
DRP2PRXDAG1DYTNZIC5ZIC4SNTG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q13474
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.51Moderately Constrained
pLIβ“˜
0.94Intolerant
Observed/Expected LoF0.37 [0.28–0.51]
RankingsWhere DRP2 stands among ~20K protein-coding genes
  • #15,851of 20,598
    Most Researched14
  • #2,372of 5,498
    Most Pathogenic Variants17
  • #3,065of 17,882
    Most Constrained (LOEUF)0.51 Β· top quartile
Genes detectedDRP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Expanding the Clinical Spectrum of
PMID: 38513194
Neurology Β· 2024
0.90
3
DRP2 promotes EMT and serves as a potential therapeutic target for LUAD treatment.
PMID: 40360616
Sci Rep Β· 2025
0.80
4
Differential gene expression in the activation and maturation of human monocytes.
PMID: 10666293
Arch Biochem Biophys Β· 2000
0.70
5
Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth.
PMID: 22764250
J Neurosci Β· 2012
0.60