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RPGR

Description retinitis pigmentosa GTPase regulator
Image
GO Annotations Cellular Component
  • Photoreceptor Outer Segment
  • Golgi Apparatus
  • Centrosome
  • Ciliary Basal Body
  • Sperm Flagellum
Molecular Function
  • RNA Binding
  • Guanyl-nucleotide Exchange Factor Activity
  • Protein Binding
Biological Process
  • Intracellular Protein Transport
  • Visual Perception
  • Intraciliary Transport
  • Regulation Of Catalytic Activity
  • Response To Stimulus
  • Cilium Assembly
Pathways
Drugs
Diseases
  • Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
  • Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
  • Retinitis pigmentosa (RP)
GWAS
Novel Interacting Genes 5 novel interacting genes: ATP6AP2 NUDT12 SLC9A7 TSPAN7 USP9X
Interacting Genes 14 interacting genes: DCTN1 DCTN2 HOMEZ IFT88 KIF3A KIFAP3 NPM1 PDE6D RPGRIP1 SLC25A10 SMC1A SMC3 TUBG1 YWHAE
Entrez ID 6103
HPRD ID 02425
Ensembl ID ENSG00000156313
Uniprot IDs Q92834
PDB IDs 4JHN 4JHP 4QAM
Enriched GO Terms of Interacting Partners?
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© Madhavi K. Ganapathiraju 2012-2025