Gene Symbol: rp2
Description: RP2, ARL3 GTPase activating protein
Alias: wu:fj10e02, wu:fm72d05, zfrp2, zgc:55632, protein XRP2, nme10, retinitis pigmentosa 2 (X-linked recessive)
Hurd T, Zhou W, Jenkins P, Liu C, Swaroop A, Khanna H, et al
. The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hum Mol Genet. 2010;19:4330-44 pubmed publisher
..Specifically, this study examines the role of the RP2 gene product with an emphasis on renal and vertebrate development...
Patil S, Hurd T, Ghosh A, Murga Zamalloa C, Khanna H. Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. PLoS ONE. 2011;6:e21379 pubmed publisher
..Mutations in the retinitis pigmentosa 2 (RP2) gene are associated with X-linked RP, which is a phenotypically heterogenic form of retinal degeneration...
Raghupathy R, McCulloch D, Akhtar S, Al Mubrad T, Shu X. Zebrafish model for the genetic basis of X-linked retinitis pigmentosa. Zebrafish. 2013;10:62-9 pubmed publisher
..Mutations in both the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene account for almost all cases of XLRP...
Liu F, Chen J, Yu S, Raghupathy R, Liu X, Qin Y, et al
. Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. Hum Mol Genet. 2015;24:4648-59 pubmed publisher
..Nearly 85% of XLRP cases are caused by mutations in the X-linked retinitis pigmentosa 2 (RP2) and RPGR...
Shu X, Zeng Z, Gautier P, Lennon A, Gakovic M, Cheetham M, et al
. Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. Invest Ophthalmol Vis Sci. 2011;52:2960-6 pubmed publisher
..Zebrafish RP2 (ZFRP2) cDNA was isolated from adult eye mRNA by reverse transcription-polymerase chain reaction (RT-PCR)...
Rapkins R, Hore T, Smithwick M, Ager E, Pask A, Renfree M, et al
. Recent assembly of an imprinted domain from non-imprinted components. PLoS Genet. 2006;2:e182 pubmed publisher
..Thus, the evolution of imprinting in viviparous mammals is ongoing...
Liu F, Qin Y, Yu S, Soares D, Yang L, Weng J, et al
. Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. J Biol Chem. 2017;292:6225-6239 pubmed publisher
Mutations in retinitis pigmentosa 2 (RP2) account for 10-20% of X-linked retinitis pigmentosa (RP) cases. The encoded RP2 protein is implicated in ciliary trafficking of myristoylated and prenylated proteins in photoreceptor cells...
Desvignes T, Pontarotti P, Fauvel C, Bobe J. Nme protein family evolutionary history, a vertebrate perspective. BMC Evol Biol. 2009;9:256 pubmed publisher
..The position of Nme10 is in contrast more debatable due to its very specific evolutionary history...
Lu H, Ma J, Yang Y, Shi W, Luo L. EpCAM is an endoderm-specific Wnt derepressor that licenses hepatic development. Dev Cell. 2013;24:543-53 pubmed publisher
..Our results identify EpCAM as the key molecule and its functional mechanism to confer endodermal cells the competence to respond to the liver-inductive Wnt2bb signal. ..