RP2 (gene)

Protein XRP2 is a protein that in humans is encoded by the RP2 gene.[5][6][7]

RP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRP2, DELXp11.3, NM23-H10, NME10, TBCCD2, Xretinitis pigmentosa 2 (X-linked recessive), ARL3 GTPase activating protein, RP2 activator of ARL3 GTPase
External IDsOMIM: 300757 MGI: 1277953 HomoloGene: 5042 GeneCards: RP2
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp11.3Start46,837,043 bp[1]
End46,882,358 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

6102

19889

Ensembl

ENSG00000102218

ENSMUSG00000060090

UniProt

O75695

Q9EPK2

RefSeq (mRNA)

NM_006915

NM_001290643
NM_001290644
NM_133669

RefSeq (protein)

NP_008846

NP_001277572
NP_001277573
NP_598430

Location (UCSC)Chr X: 46.84 – 46.88 MbChr X: 20.36 – 20.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.[7] The RP2 protein is also involved in regulating the function and extension of the outer segment of cone photoreceptors in mice.[8][9]

References

  1. GRCh38: Ensembl release 89: ENSG00000102218 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000060090 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CM, Jay M, Bird AC, Pearson PL, Southern EM (Jun 1984). "Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28". Nature. 309 (5965): 253–5. doi:10.1038/309253a0. PMID 6325945.
  6. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W (Sep 1998). "Positional cloning of the gene for X-linked retinitis pigmentosa 2". Nat Genet. 19 (4): 327–332. doi:10.1038/1214. PMID 9697692.
  7. "Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive)".
  8. Li L, Rao KN, Zheng-Le Y, Hurd TW, Lillo C, Khanna H (Sep 2015). "Loss of Retinitis Pigmentosa 2 (RP2) protein predominantly affects cone photoreceptor sensory cilium elongation in mice". Cytoskeleton. 72 (9): 447–54. doi:10.1002/cm.21255. PMC 4715527. PMID 26383048.
  9. Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR, Swaroop A, Khanna H (2013). "Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration". Invest Ophthalmol Vis Sci. 54 (7): 4503–11. doi:10.1167/iovs.13-12140. PMC 3700388. PMID 23745007.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.