Identity
HGNC
LOCATION
Xp11.3
LOCUSID
ALIAS
DELXp11.3,NM23-H10,NME10,TBCCD2,XRP2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6102
MIM: 300757
HGNC: 10274
Ensembl: ENSG00000102218
Variants:
dbSNP: 6102
ClinVar: 6102
TCGA: ENSG00000102218
COSMIC: RP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102218 | ENST00000218340 | O75695 |
| ENSG00000102218 | ENST00000218340 | A0A1B2JLU2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37977507 | 2024 | RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. | 0 |
| 37977507 | 2024 | RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. | 0 |
| 36882936 | 2023 | Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations. | 0 |
| 38094283 | 2023 | A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report. | 0 |
| 36882936 | 2023 | Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations. | 0 |
| 38094283 | 2023 | A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report. | 0 |
| 34208932 | 2021 | Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials. | 3 |
| 34208932 | 2021 | Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials. | 3 |
| 32244552 | 2020 | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | 10 |
| 32875684 | 2020 | RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. | 6 |
| 32244552 | 2020 | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | 10 |
| 32875684 | 2020 | RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. | 6 |
| 31071385 | 2019 | A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability. | 7 |
| 31071385 | 2019 | A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability. | 7 |
| 29361551 | 2018 | Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling. | 4 |
Citation
Dessen P
RP2 (RP2 activator of ARL3 GTPase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72771/rp2-(rp2-activator-of-arl3-gtpase)
