RP2, RP2 activator of ARL3 GTPase, 6102

N. diseases: 45; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease BEFREE This was further validated by reduced levels of Kif7 at cilia tips detected in fibroblasts and induced pluripotent stem cell (iPSC) 3D optic cups derived from a patient carrying an RP2 nonsense mutation c.519C > T (p.R120X), which lack detectable RP2 protein. 28444310 2017
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease BEFREE A compound heterozygous mutation in the gene usherin 2A (USH2A; c.6,485+5G>A/c.11,156G>A) and a heterozygous X‑linked mutation in the gene retinitis pigmentosa 2 (RP2) ARL3 GTPase‑activating protein (RP2; c.358C>T) were identified by Sanger sequencing and co‑segregation analysis, of which the pathogenic mutation (c.6,485+5G>A) in USH2A has not been previously reported among Chinese patients. 30280194 2018
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease BEFREE Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. 28209709 2017
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 PosttranslationalModification disease BEFREE Using computational analysis, we revealed an extragenic tandem GAAA repeat 230-bp from the landmark CpG island of the human X-linked retinitis pigmentosa 2 RP2 promoter whose 5meCpG status correlates with XCI. 25078280 2014
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 AlteredExpression disease BEFREE Concurrently, we generated a self-complementary adeno-associated viral (AAV) vector carrying human RP2-coding sequence and demonstrated its ability to mediate stable RP2 protein expression in mouse photoreceptors. 26358772 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation disease BEFREE Two affected hemizygotes with retinitis pigmentosa associated with transversion mutations in codon 253 (Leu253Arg) of the RP2 gene and the obligate carriers were examined. 10634633 2000
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation disease BEFREE The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage. 16457815 2006
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation disease BEFREE This figure is comparable to the percentage of RP2 gene mutations that we have detected in our entire XLRP patient pool (10%-15%). 10480356 1999
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation disease BEFREE The majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or RP2 genes, the protein products of which are both components of the connecting cilium and associated with distinct mechanisms of protein delivery to the outer segment. 27911705 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation disease BEFREE Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 17093403 2006
CUI: C0027092
Disease: Myopia
Myopia 		0.110 GeneticVariation disease BEFREE The present study provides evidence for linkage of the clinical form with early myopia as the onset symptom with the RP2 gene (pairwise linkage to DXS255: Z = 3.13 at theta = 0), while the clinical form with later night blindness as the onset symptom is linked to the RP3 gene (pairwise linkage to OTC: Z = 4.16 at theta = 0). 1357178 1992
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.110 GeneticVariation disease BEFREE The present study provides evidence for linkage of the clinical form with early myopia as the onset symptom with the RP2 gene (pairwise linkage to DXS255: Z = 3.13 at theta = 0), while the clinical form with later night blindness as the onset symptom is linked to the RP3 gene (pairwise linkage to OTC: Z = 4.16 at theta = 0). 1357178 1992
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP). 20021257 2010
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. 11262649 2001
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability. 31071385 2019
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE In agreement with the previous studies, we show that mutations in the RP2 gene and in the original 19 RPGR exons are detected in <10% and approximately 20% of XLRP probands, respectively. 11992260 2002
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 Biomarker disease BEFREE RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa? 19702441 2009
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients. 10634633 2000
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE Mutations in the RP2 gene are linked to the second most frequent form of X-linked retinitis pigmentosa. 16457815 2006
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE To identify novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene underlying X-linked retinitis pigmentosa (XLRP) and assess genotype-phenotype correlations. 27768226 2017
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity. 11020419 2000
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE Mutations in RPGR and RP2 genes together account for approximately 33% of cases of XLRP in North America. 10937588 2000
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 PosttranslationalModification disease BEFREE Using computational analysis, we revealed an extragenic tandem GAAA repeat 230-bp from the landmark CpG island of the human X-linked retinitis pigmentosa 2 RP2 promoter whose 5meCpG status correlates with XCI. 25078280 2014
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 GeneticVariation disease BEFREE Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa. 11465545 2001
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.100 AlteredExpression disease BEFREE RPGR and RP2 genes expressed in the photoreceptor sensory cilia are predominantly implicated in XLRP; however, the interpretation of genetic mutations and their correlation with clinical phenotypes remain unknown, and the role of these genes in photoreceptor cilia function is not completely elucidated. 23443027 2013