Version 5.4
Homo sapiens Gene: RP2
Summary
InnateDB Gene IDBG-59353.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RP2
Gene Name retinitis pigmentosa 2 (X-linked recessive)
Synonyms DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2
Species Homo sapiens
Ensembl Gene ENSG00000102218
Encoded Proteins
IDBP-59355
retinitis pigmentosa 2 (X-linked recessive)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:46836940-46882358
Strand Forward strand
Band p11.3
Transcripts
ENST00000218340 ENSP00000218340
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0004550 nucleoside diphosphate kinase activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0051082 unfolded protein binding
Biological Process
GO:0000902 cell morphogenesis
GO:0006165 nucleoside diphosphate phosphorylation
GO:0006183 GTP biosynthetic process
GO:0006228 UTP biosynthetic process
GO:0006241 CTP biosynthetic process
GO:0006457 protein folding
GO:0006892 post-Golgi vesicle-mediated transport
GO:0007010 cytoskeleton organization
GO:0007601 visual perception
GO:0015031 protein transport
GO:0043547 positive regulation of GTPase activity
Cellular Component
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005814 centriole
GO:0005886 plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0036064 ciliary basal body
GO:0070062 extracellular vesicular exosome
GO:1990075 periciliary membrane compartment
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000060090
View Gene Order
ENSBTAG00000005496
Not yet available
Cross-References
SwissProt O75695
TrEMBL
UniProt Splice Variant
Entrez Gene 6102
UniGene Hs.44766 Hs.620755
RefSeq NM_006915
HUGO HGNC:10274
OMIM 300757
CCDS CCDS14270
HPRD
IMGT
EMBL AJ007590 AL050307 AL627143 BC043348 BC053530
GenPept AAH43348 AAH53530 CAA07577 CAB82030
RNA Seq Atlas 6102

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca