RP2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RP2 |
| Official Name | RP2 activator of ARL3 GTPase [Source:HGNC Symbol;Acc:HGNC:10274] |
| Ensembl ID | ENSG00000102218 |
| Bio databases IDs | |
| Aliases | RP2 activator of ARL3 GTPase |
| Synonyms | DELXp11.3, LOC100361788, LOC102641561, NM23-H10, NME10, retinitis pigmentosa 2 homolog, RGD1565124, RP2 activator of ARL3 GTPase, Rp2h, TBCCD2, XRP2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- myristoylation sequence
- Tubulin binding cofactor C
- GTPase activator
- enzyme
- protein binding
- magnesium ion binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- retinitis pigmentosa
- retinal dystrophy
- retinitis pigmentosa type 2
- RP2-related retinopathy
- Leber congenital amaurosis type 1
- dystrophy
- retinitis pigmentosa type 3
- X-linked retinitis pigmentosa
- breast adenocarcinoma
role in cell
- number
- electrophysiology
- abnormal morphology
- migration by
- dispersal
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- intracellular membrane-bounded organelle
- cilia
- cellular membrane
- Plasma Membrane
- basal bodies
- Golgi Apparatus
- centriole
- cytosol
- nucleoplasm
- nuclear bodies
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- protein transport
- post-chaperonin tubulin folding pathway
- post-Golgi vesicle-mediated transport
- visual perception
- protein folding
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- nuclear body
- cilium basal body
- centriole
- cytoplasm
- cilium
- cytoplasmic vesicle
- Golgi apparatus
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- GTP binding
- protein binding
- GTPase activator activity
- unfolded protein binding