Property Summary

NCBI Gene PubMed Count 51
Grant Count 53
R01 Count 8
Funding $8,364,440.77
PubMed Score 19.88
PubTator Score 168.53

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Gene RIF (27)

PMID Text
25844643 ellipsometric measurements of naRP2 demonstrated that its particular affinity for saturated phospholipids can be explained by its larger extent of insertion in this phospholipid monolayer compared to that in polyunsaturated phospholipid monolayers.
25292197 The ability of the restored RP2 protein level to reverse the observed cellular phenotypes in cells lacking RP2 indicates that translational read-through could be clinically beneficial for patients.
25078280 The methylation state of CpG sites close to the RP2 core promoter (GAAA)n repeat serves as a proxy measurement of X-chromosome inactivation in human and non-human primates.
24479636 A novel frameshift mutation in RP2 was detected. This mutation was located in exon 2 of the RP2 gene: a nucleotide C was inserted at 111 (c.111insC, Fig. 1A), which caused a protein translation frameshift
23372056 Direct sequencing of RPGR and RP2 allowed for identification of a disease-causing mutation in 21 families. Of these "adRP" families 19 had RPGR mutations, and two had RP2 mutations.
23150612 Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration.
22183373 The localization of RP2 to basal bodies and cilia in photoreceptors and kidney cells has linked RP2 dysfunction with ciliopathies.
22072390 data support a role for RP2 in facilitating the membrane association and traffic of Gbeta1, potentially prior to the formation of the obligate Gbeta:Ggamma heterodimer; combined with other recent evidence, this suggests that RP2 may co-operate with Arl3 and its effectors in the cilia-associated traffic of G proteins
21285245 Data demonstrate that Importin beta2 is necessary for localization of retinitis pigmentosa 2 (RP2) to the primary cilium, and identify two distinct binding sites of RP2, which interact independently with Importin beta2.
20801516 Observational study of genetic testing. (HuGE Navigator)
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AA Sequence

MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENC      1 - 70
NIYIFDHSATVTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESS     71 - 140
SNIKFGCFQWYYPELAFQFKDAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAV    141 - 210
RVSTEANRSIVPISRGQRQKSSDESCLVVLFAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRV    211 - 280
FREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFNGTKMFVSESKETASGDVDSFYNFADIQMGI    281 - 350
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Text Mined References (57)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25844643 2015 Lipid Selectivity, Orientation, and Extent of Membrane Binding of Nonacylated RP2.
25292197 2015 Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
25255805 2014 Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.
25078280 2014 5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.
24479636 2014 A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23372056 2013 Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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