Details for Gene RXFP2

GENE NAME RXFP2
CHROMOSOME 13
ENSEMBL ID None
ENTREZ ID ENSG00000133105
UNIPROT ACCESSION NUMBER Q8WXD0
GO MOLECULAR FUNCTION ['G protein-coupled peptide receptor activity', 'protein-hormone receptor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04080; hsa04926; R-HSA-162582; R-HSA-1643685; R-HSA-372790; R-HSA-373076; R-HSA-375276; R-HSA-388396; R-HSA-418555; R-HSA-444821; R-HSA-500792; R-HSA-5663205; R-HSA-9658195; R-HSA-9660821; R-HSA-9662851; R-HSA-9664433
6 combinations linked to RXFP2 OLI1572; OLI1547; OLI1548; OLI1578; OLI1522; OLI1562
4 variants linked to RXFP2 RXFP2:c.1904C>T, p.Ala635Val; RXFP2:c.184G>A, p.Ala62Thr; RXFP2:c.562C>A, p.Gln188Lys; RXFP2:c.958C>A, p.Leu320Ile
2 diseases linked to RXFP2 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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