RP2
RP2 Activator of ARL3 GTPase
Gene Information Card
| Symbol | RP2 |
|---|---|
| Full Name | RP2 activator of ARL3 GTPase |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 6102 ncbi.nlm.nih.gov/gene/6102 |
| Ensembl ID | ENSG00000102218 |
| UniProt ID | O75695 |
| OMIM ID | 312600 |
| HGNC ID | 10274 |
| Aliases | RP2, TBCCD2, XRP2 |
Description
The RP2 gene encodes a protein that functions as a GTPase activator for ARL3, playing a critical role in ciliary trafficking and photoreceptor cell maintenance. Mutations in RP2 are a common cause of X-linked retinitis pigmentosa, a progressive retinal degeneration disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 2 (X-linked) | Loss of RP2 function disrupts ARL3-mediated ciliary transport, leading to photoreceptor degeneration. | ClinVar, OMIM |
| Cone-rod dystrophy (X-linked) | Impaired ciliary protein trafficking due to RP2 deficiency affects cone photoreceptors. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 8.3 | Medium |
| Brain | 4.1 | Low |
| Lung | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 6.8 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.353G>A (p.Arg118His) | Missense | Common | Loss of ARL3 binding and GTPase activation |
| c.107delA (p.Lys36Argfs*19) | Frameshift | Rare | Premature truncation, complete loss of function |
| c.2T>C (p.Met1Thr) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Most RP2 mutations are loss-of-function, leading to impaired ciliary trafficking and photoreceptor death.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; RP2 is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • ARL3 GTPase binding (GO:0031267) |
| • Photoreceptor cell maintenance (GO:0045494) | • Cilium assembly (GO:0060271) |
| • Intracellular protein transport (GO:0006886) |
Pathways
• Ciliary trafficking pathway (ARL3-RP2)
• Photoreceptor cell maintenance
Protein Summary
The RP2 protein (350 amino acids) localizes to the ciliary base and plasma membrane. It acts as a GTPase-activating protein (GAP) for ARL3, regulating the release of lipid-modified cargo from ARL3-GTP. This process is essential for proper ciliary protein trafficking in photoreceptors. Loss of RP2 function leads to accumulation of mislocalized proteins and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RP2 Knockout HEK293 Cell Line | EDJ-KQ5684 | Human | 6102 | Details Get a Quote |
| RP2 Knockout A-549 Cell Line | EDJ-KQ29040 | Human | 6102 | Details Get a Quote |
| RP2 Knockout HCT 116 Cell Line | EDJ-KQ29041 | Human | 6102 | Details Get a Quote |
| RP2 Knockout HeLa Cell Line | EDJ-KQ29042 | Human | 6102 | Details Get a Quote |
