Gene: RPGR

Alternate names for this Gene: COD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15

Gene Summary: This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.4

Description of this Gene: retinitis pigmentosa GTPase regulator

Type of Gene: protein-coding

rs75759941 in RPGR gene and Adverse effects, not elsewhere classified PMID 31095341 2020 Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

rs62638634 in RPGR gene and Ciliary Motility Disorders PMID 10937588 2000 X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

PMID 9855162 1998 X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

PMID 9399904 1997 Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

rs75759941 in RPGR gene and Prostate carcinoma PMID 31095341 2020 Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

rs137852550 in RPGR gene and RETINITIS PIGMENTOSA 3 PMID 11180598 2001 Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

PMID 10737996 2000 Novel mutations of the RPGR gene in RP3 families.

PMID 8673101 1996 A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

PMID 14564670 2003 RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

PMID 10932196 2000 Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

PMID 12657579 2003 X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

PMID 10937588 2000 X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

PMID 11992260 2002 A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

PMID 10970770 2000 Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

PMID 8817343 1996 Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

PMID 9855162 1998 X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

PMID 24981858 2014 C2 domains as protein-protein interaction modules in the ciliary transition zone.

PMID 10482958 1999 Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

PMID 9399904 1997 Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

PMID 11754051 2001 Acampomelic campomelic syndrome.

PMID 17195164 2007 RPGR mutation analysis and disease: an update.

PMID 11754050 2001 Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.

rs869312185 in RPGR gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs1555961832 in RPGR gene and Retinitis Pigmentosa PMID 11992260 2002 A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

PMID 10932196 2000 Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137852550 in RPGR gene and Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness PMID 12920075 2003 RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

PMID 14627685 2003 Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.