• Gene id: 6102

Gene Summary

• Gene Symbol: RP2   Gene   UCSC   Ensembl
• Aliases: DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2
• Gene name: RP2 activator of ARL3 GTPase
• Alternate names: protein XRP2, RP2, ARL3 GTPase activating protein, retinitis pigmentosa 2 (X-linked recessive),
• Gene location: Xp11.3 (46837042: 46882357)     Exons: 5     NC_000023.11
• Gene summary(Entrez): 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 therefo
• OMIM: 601611

Protein Summary

• Protein general information: O75695  
  • Name: Protein XRP2
  • Length: 350  
  • Mass: 39641
  • Tissue specificity: Ubiquitous. Expressed in the rod and cone photoreceptors, extending from the tips of the outer segment (OS) through the inner segment (IS) and outer nuclear layer (ONL) and into the synaptic terminals of the outer plexiform layer (ONL)
• Sequence:

  MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENCNIYIF
  DHSATVTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSSNIKFGCFQW
  YYPELAFQFKDAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISR
  GQRQKSSDESCLVVLFAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIAL
  EFNGDGAVEVCQLIVNEIFNGTKMFVSESKETASGDVDSFYNFADIQMGI

• Structural information:
  • Protein Domains: (24..17-)
    (/note="C-CAP/cofactor-C-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00659"-)
  • Interpro: IPR017901  IPR016098  IPR036223  IPR006599  IPR036850   IPR012945  IPR039093  
  • Prosite: PS51329
  • PDB: 2BX6 3BH6 3BH7
  • PDBsum: 2BX6 3BH6 3BH7
  • DIP: 29024
  • STRING: ENSP00000218340
• Other Databases: GeneCards:  RP2  Malacards:  RP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990075	periciliary membrane compartment	IBA	cellular component
GO:0006892	post-Golgi vesicle-mediated transport	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0007023	post-chaperonin tubulin folding pathway	IDA	NOT|biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000902	cell morphogenesis	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IGI	cellular component
GO:0006892	post-Golgi vesicle-mediated transport	IGI	biological process
GO:0006892	post-Golgi vesicle-mediated transport	IMP	biological process
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1990075	periciliary membrane compartment	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0006457	protein folding	TAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	PMID:10937588
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R