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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.
RP2
RP2 activator of ARL3 GTPase
Chromosome X Β· Xp11.3
NCBI Gene: 6102Ensembl: ENSG00000102218.7HGNC: HGNC:10274UniProt: A0A1B2JLU2
101PubMed Papers
21Diseases
0Drugs
176Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
post-chaperonin tubulin folding pathwaycytoplasmmagnesium ion bindingGTPase activator activityretinitis pigmentosaretinitis pigmentosa 2Retinal dystrophyretinitis pigmentosa 3
✦AI Summary

RP2 encodes a GTPase-activating protein (GAP) for ARL3 that regulates ciliary protein trafficking and assembly 1. RP2 functions as a molecular switch in the ARL3 signaling pathway, inactivating GTP-bound ARL3 to release cargo-carrying proteins like UNC119 for delivery to the ciliary membrane and outer segment of photoreceptors 1. This process is essential for proper localization of membrane-associated proteins, including components of heterotrimeric G proteins critical for phototransduction 1. RP2 mutations cause X-linked retinitis pigmentosa (XLRP), accounting for approximately 5.3% of early-onset severe retinal dystrophy cases in some populations 2. XLRP represents the most severe form of retinitis pigmentosa, affecting approximately 15-20% of all RP cases 3. Affected males typically experience progressive vision loss with advancing age, whereas heterozygous female carriers generally maintain relatively preserved visual acuity throughout their lifetime, though approximately 79% show funduscopic abnormalities 3. The X-linked inheritance pattern and reliance on loss-of-function mechanisms make RP2-associated disease a candidate for gene replacement therapeutics 4.

Sources cited
1
RP2 is a GAP for Arl3 involved in traffic of lipid-modified proteins and membrane association of G-protein subunits
PMID: 22884633
2
RP2 mutations account for 5.3% of early-onset severe retinal dystrophy cases in a Chinese cohort
PMID: 31630094
3
XLRP represents 15-20% of RP cases; RP2 carrier females maintain good visual acuity while affected males show progressive vision decline
PMID: 35094030
4
RP2-associated retinitis pigmentosa is X-linked and amenable to gene replacement strategies
PMID: 32860923
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.81Strong
retinitis pigmentosa 2Open Targets
0.70Moderate
Retinal dystrophyOpen Targets
0.57Moderate
retinitis pigmentosa 3Open Targets
0.48Moderate
Leber congenital amaurosisOpen Targets
0.45Moderate
eye diseaseOpen Targets
0.37Weak
RP2-related retinopathyOpen Targets
0.37Weak
retinopathyOpen Targets
0.35Weak
Cone rod dystrophyOpen Targets
0.34Weak
cone-rod dystrophyOpen Targets
0.34Weak
Abnormality of the eyeOpen Targets
0.26Weak
Macular dystrophyOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
Stargardt diseaseOpen Targets
0.12Weak
gliomaOpen Targets
0.08Suggestive
retinitis pigmentosa 73Open Targets
0.06Suggestive
Sorsby fundus dystrophyOpen Targets
0.05Suggestive
Sorsby's fundus dystrophyOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.05Suggestive
X-linked retinoschisisOpen Targets
0.05Suggestive
Retinitis pigmentosa 2UniProt
Pathogenic Variants176
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)Pathogenic
Retinitis pigmentosa 2|Retinal dystrophy|Retinitis pigmentosa|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 120
NM_006915.3(RP2):c.798_801del (p.Thr267fs)Pathogenic
not provided|Retinal disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 267
NM_006915.3(RP2):c.353G>A (p.Arg118His)Pathogenic
Retinitis pigmentosa 2|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 118
NM_006915.3(RP2):c.102G>A (p.Lys34=)Likely pathogenic
Leber congenital amaurosis|Retinitis pigmentosa 3|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 34
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)Pathogenic
Retinal dystrophy|Retinitis pigmentosa|not provided|X-linked retinitis pigmentosa|Retinitis pigmentosa 2
β˜…β˜…β˜†β˜†2025β†’ Residue 118
NM_006915.3(RP2):c.758T>G (p.Leu253Arg)Likely pathogenic
not provided|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2025β†’ Residue 253
NM_006915.3(RP2):c.409_411del (p.Ile137del)Pathogenic
not provided|Retinal dystrophy|Retinitis pigmentosa 2
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_006915.3(RP2):c.58G>T (p.Glu20Ter)Pathogenic
not provided|Retinitis pigmentosa 2
β˜…β˜…β˜†β˜†2025β†’ Residue 20
NM_006915.3(RP2):c.352del (p.Arg118fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 118
NM_006915.3(RP2):c.631del (p.Arg211fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 211
NM_006915.3(RP2):c.685C>T (p.Gln229Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 229
NM_006915.3(RP2):c.801_804del (p.Glu269fs)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 269
NM_006915.3(RP2):c.2T>C (p.Met1Thr)Pathogenic
not provided|Retinitis pigmentosa|X-linked retinitis pigmentosa
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_006915.3(RP2):c.1A>T (p.Met1Leu)Pathogenic
not provided|Retinitis pigmentosa 2
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_006915.3(RP2):c.87G>A (p.Trp29Ter)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 29
NM_006915.3(RP2):c.450G>A (p.Trp150Ter)Pathogenic
not provided|Retinitis pigmentosa 2
β˜…β˜…β˜†β˜†2023β†’ Residue 150
NM_006915.3(RP2):c.969+2T>CPathogenic
not provided|Retinitis pigmentosa 2
β˜…β˜…β˜†β˜†2023
NM_006915.3(RP2):c.76C>T (p.Gln26Ter)Pathogenic
Retinitis pigmentosa 2|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 26
NM_006915.3(RP2):c.385_386del (p.Leu129fs)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2022β†’ Residue 129
NM_006915.3(RP2):c.593_594del (p.Tyr198fs)Pathogenic
not provided|Retinitis pigmentosa 2
β˜…β˜…β˜†β˜†2022β†’ Residue 198
View on ClinVar β†—
Related Genes
UNC119BProtein interaction93%ARL3Protein interaction69%NUDCD3Shared pathway40%TBCCShared pathway33%TBCAShared pathway33%ABLIM1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
20%
Brain
16%
Heart
15%
Liver
14%
Ovary
10%
Gene Interaction Network
Click a node to explore
RP2UNC119BARL3NUDCD3TBCCTBCAABLIM1
PROTEIN STRUCTURE
Preparing viewer…
PDB3BH7 Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.07–0.38]
RankingsWhere RP2 stands among ~20K protein-coding genes
  • #4,743of 20,598
    Most Researched101 Β· top quartile
  • #413of 5,498
    Most Pathogenic Variants176 Β· top 10%
  • #1,852of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedRP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
PMID: 32860923
Prog Retin Eye Res Β· 2021
1.00
2
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
PMID: 31630094
Br J Ophthalmol Β· 2020
0.90
3
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
PMID: 31960602
Mol Genet Genomic Med Β· 2020
0.80
4
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.
PMID: 22884633
Vision Res Β· 2012
0.70
5
Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.
PMID: 35094030
Eye (Lond) Β· 2023
0.60