Gene: RP2

Alternate names for this Gene: DELXp11.3|NM23-H10|NME10|TBCCD2|XRP2

Gene Summary: The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death

Gene is located in Chromosome: X

Location in Chromosome : Xp11.3

Description of this Gene: RP2 activator of ARL3 GTPase

Type of Gene: protein-coding

rs1556313414 in RP2 gene and Macular dystrophy PMID 18552978 2008 Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

rs104894927 in RP2 gene and RETINITIS PIGMENTOSA 2 (disorder) PMID 10090907 1999 Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

PMID 15032968 2004 Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

PMID 14564670 2003 RP2 and RPGR mutations and clinical correlations in patients with X-linked 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 11462235 2001 Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

PMID 16472755 2006 Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.

PMID 10634633 2000 A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 9697692 1998 Positional cloning of the gene for X-linked retinitis pigmentosa 2.

PMID 10520237 1999 Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).

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

PMID 11847227 2002 Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.

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 10942419 2000 Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

rs104894927 in RP2 gene and Retinal Dystrophies PMID 10053026 1999 Protein-truncation mutations in the RP2 gene in a North American cohort of families with 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.

rs104894927 in RP2 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.