Details for Gene PIK3R3

GENE NAME PIK3R3
CHROMOSOME 1
ENSEMBL ID ENSG00000117461
ENTREZ ID 8503
UNIPROT ACCESSION NUMBER Q92569
GO MOLECULAR FUNCTION 1-phosphatidylinositol-3-kinase regulator activity; 1-phosphatidylinositol-3-kinase activity; protein binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-8853659; R-HSA-5663202; hsa04919; hsa05200; hsa04218; hsa04933; hsa05167; hsa04015; hsa05166; R-HSA-1266738; hsa04071; hsa05131; hsa04931; hsa05211; hsa05171; hsa05169; hsa04915; hsa04923; hsa05163; hsa04150; hsa05235; hsa04973; hsa05161; R-HSA-199418; hsa04012; hsa05100; hsa05220; hsa01522; R-HSA-9006934; hsa01521; hsa05206; hsa01524; hsa04750; hsa04613; hsa05226; hsa04910; hsa05017; hsa05142; hsa05020; hsa04066; R-HSA-422475; hsa05170; hsa04666; R-HSA-9675108; hsa05214; hsa04072; hsa04550; hsa04370; R-HSA-168256; hsa04140; hsa04211; hsa05231; R-HSA-1433557; hsa04929; R-HSA-388396; R-HSA-8939211; hsa05165; hsa05168; hsa05224; R-HSA-1483255; hsa04070; hsa05010; hsa05135; hsa05213; hsa05223; hsa05164; hsa04152; hsa05205; hsa04725; hsa04917; hsa04625; hsa04660; hsa04620; R-HSA-416476; hsa04024; hsa04935; hsa04930; hsa05418; hsa04151; hsa04360; hsa05212; hsa04630; hsa05160; hsa04062; hsa04932; hsa04914; hsa04960; hsa04662; R-HSA-1280215; R-HSA-76002; hsa04068; hsa05225; R-HSA-372790; R-HSA-9006925; hsa04810; hsa04670; hsa05210; R-HSA-912526; hsa04380; hsa04510; R-HSA-449147; hsa04722; hsa04611; hsa05162; hsa04668; hsa05203; R-HSA-114604; hsa05146; hsa05215; hsa04664; hsa04650; hsa05221; hsa05230; hsa04926; R-HSA-389356; hsa05222; hsa05218; hsa04210; hsa04213; hsa04014; hsa05169; hsa04915; R-HSA-162582; hsa05171; hsa04931; hsa05211; hsa04071; hsa05131; hsa01522; hsa04012; hsa05100; hsa05220; hsa05161; hsa04973; hsa04923; hsa04150; hsa05235; hsa05163; hsa04919; hsa05200; R-HSA-388841; R-HSA-912631; R-HSA-1483257; R-HSA-2219530; hsa05166; R-HSA-109582; hsa04015; hsa04933; hsa05167; hsa04218; hsa04929; hsa04211; hsa05231; hsa04140; R-HSA-6811558; hsa04070; hsa05010; hsa05135; hsa05224; hsa05168; R-HSA-389357; hsa05165; hsa04910; hsa05017; hsa05226; hsa04613; hsa01521; hsa05206; R-HSA-1266695; hsa04750; hsa01524; hsa04550; hsa04370; hsa05214; hsa04072; R-HSA-512988; hsa04066; hsa04666; hsa05170; R-HSA-1430728; hsa05142; hsa05020; R-HSA-9669938; hsa04151; hsa04360; hsa05418; hsa05212; hsa04935; hsa04930; hsa04024; R-HSA-9006931; hsa04662; hsa04960; hsa04932; hsa04914; R-HSA-451927; R-HSA-9009391; hsa04062; hsa04630; hsa05160; hsa04152; hsa05164; R-HSA-1280218; hsa05213; hsa05223; R-HSA-1643685; hsa04660; hsa04620; hsa04917; hsa04625; hsa04725; hsa05205; hsa05230; hsa05221; R-HSA-1660499; hsa04926; hsa04650; R-HSA-9670439; R-HSA-1257604; hsa04664; hsa04210; hsa04213; R-HSA-556833; hsa04014; hsa05218; hsa05222; hsa04670; hsa05210; hsa04380; hsa04510; hsa04810; R-HSA-2219528; hsa04068; hsa05225; hsa05215; hsa05146; hsa04668; hsa05203; hsa05162; hsa04722; hsa04611
3 combinations linked to PIK3R3 OLI604; OLI352; OLI349
3 variants linked to PIK3R3 PIK3R3:c.290A>G, p.Gln97Arg; PIK3R3:c.950A>G, p.Asn317Ser; PIK3R3:c.838G>A, p.Asp280Asn
2 diseases linked to PIK3R3 Disorder of sex development; 46,XY disorder of sex development
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