DRP2

Chr Xq22.1

dystrophin related protein 2

MANE:: ENST00000395209.8

OMIM: 300052 ↗NCBI: 1821 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DRP2 · Q13474

v62025-08-01

Predicted Aligned Error matrix for DRP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.2/ 100

Confident

957 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)24%
Low(50–70)8%
Very low(< 50)26%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy or pain disorder
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

Charcot-Marie-Tooth disease
0.35
hereditary motor and sensory neuropathy
0.12
Charcot-Marie-Tooth disease X-linked dominant 1
0.12
Charcot-Marie-Tooth disease type X
0.12
X-linked Charcot-Marie-Tooth disease type 1
0.12
autism
0.11
Global developmental delay
0.11
Down syndrome
0.02
schizophrenia
0.02
glioblastoma
0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dystrophin-related protein 2

Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system