| Gene Symbol |
RP2
|
| Entrez Gene |
6102
|
| Alt Symbol |
DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
retinitis pigmentosa 2 (X-linked recessive)
|
| Other Description |
protein XRP2
|
| Swissprots |
Q9NU67 Q86XJ7 O75695
|
| Accessions |
EAW59275 O75695 AJ007590 CAA07577 AK312555 BAG35452 AL049366 BC027851 BC043348 AAH43348 BC053530 AAH53530 DA211161 HQ448604 ADQ33082 NM_006915 NP_008846
|
| Function |
Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins. {ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:18376416, ECO:0000269|PubMed:20106869, ECO:0000269|PubMed:22085962}.
|
| Subcellular Location |
Cell membrane; Lipid-anchor; Cytoplasmic side. Cell projection, cilium. Note=Detected predominantly to the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus.
|
| 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). Also detected in the bipolar, horizontal and amacrine cells in the inner nuclear layer (INL), extending to the inner plexiform layer (IPL) and though the ganglion cell layer (GCL) and into the nerve fiber layer (NFL) (at protein level). {ECO:0000269|PubMed:10942419, ECO:0000269|PubMed:12417528, ECO:0000269|PubMed:18376416}.
|