Details for Gene RP2

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

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