GENE NAME | RP2 |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000102218 |
ENTREZ ID | 6102 |
UNIPROT ACCESSION NUMBER | O75695 |
GO MOLECULAR FUNCTION | protein binding; magnesium ion binding; nucleotide binding; GTP binding; GTPase activator activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-5620920; R-HSA-5620920; R-HSA-5617833; R-HSA-1852241; R-HSA-5624138; R-HSA-5624138; R-HSA-1852241; R-HSA-5617833 |
1 combination linked to RP2 | OLI447 |
1 variant linked to RP2 | RP2:c.348_349insT, p.Phe117Phefs7 |
1 disease linked to RP2 | Retinitis pigmentosa |