RP2

Chr Xp11.3

RP2 activator of ARL3 GTPase

Aliases:: TBCCD2, NME10, NM23-H10
MANE:: ENST00000218340.4

OMIM: 300757 ↗NCBI: 6102 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RP2 · O75695

v62025-08-01

Predicted Aligned Error matrix for RP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.0/ 100

Very high

350 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)4%
Low(50–70)4%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glaucoma (developmental)
Structural eye disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

retinitis pigmentosa
0.82
retinitis pigmentosa 2
0.70
Retinal dystrophy
0.57
retinitis pigmentosa 3
0.48
Leber congenital amaurosis
0.47
retinal disorder
0.43
eye disorder
0.37
RP2-related retinopathy
0.37
Cone rod dystrophy
0.37
cone-rod dystrophy
0.36

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

Protein function (UniProt)

Protein XRP2

Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as a guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins