Details for Gene ITPR3

GENE NAME ITPR3
CHROMOSOME 6
ENSEMBL ID ENSG00000096433
ENTREZ ID 3710
UNIPROT ACCESSION NUMBER Q14573
GO MOLECULAR FUNCTION inositol 1,4,5 trisphosphate binding; calcium ion binding; inositol hexakisphosphate binding; protein binding; inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; inositol 1,3,4,5 tetrakisphosphate binding; phosphatidylinositol binding; calcium-release channel activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-168256; hsa04911; hsa05167; hsa04929; R-HSA-388396; R-HSA-5607764; hsa04971; R-HSA-397014; hsa05012; hsa04270; hsa04713; hsa04970; hsa04070; hsa05010; hsa04728; hsa04750; R-HSA-2454202; hsa05017; R-HSA-9662851; hsa04928; hsa05163; hsa04922; hsa04022; hsa04020; hsa04915; hsa04934; hsa05131; R-HSA-111885; R-HSA-112040; hsa04918; R-HSA-422356; hsa04972; hsa05020; R-HSA-5621481; hsa05170; hsa04730; R-HSA-5607763; R-HSA-9006934; hsa04540; R-HSA-4420097; R-HSA-5218921; hsa04925; hsa05022; R-HSA-9664323; hsa04724; R-HSA-9658195; hsa04218; R-HSA-139853; hsa05014; hsa04924; R-HSA-9664433; hsa04114; hsa04625; hsa04720; hsa04912; hsa04742; hsa04210; hsa04621; hsa04371; hsa04723; R-HSA-372790; R-HSA-9006925; R-HSA-5578775; R-HSA-416476; hsa04927; R-HSA-381676; hsa04935; hsa04611; R-HSA-76002; hsa04726; hsa04921; R-HSA-983695; hsa05205; hsa04725; hsa04730; hsa04918; hsa04972; R-HSA-2029480; hsa05170; R-HSA-1430728; hsa05020; hsa05014; hsa04218; hsa04924; R-HSA-114508; hsa04540; R-HSA-194138; R-HSA-4086398; hsa04724; hsa04925; hsa05022; hsa04971; R-HSA-1489509; R-HSA-418360; hsa04070; hsa05010; R-HSA-168249; hsa05012; hsa04270; hsa04713; hsa04970; hsa04911; R-HSA-109582; hsa05167; hsa04929; hsa04915; hsa04022; R-HSA-162582; hsa04020; hsa04934; hsa05131; R-HSA-5663205; hsa04750; hsa04728; hsa04922; hsa05017; hsa04928; hsa05163; R-HSA-5576891; R-HSA-163685; hsa04927; hsa04935; hsa04611; R-HSA-983705; hsa04725; hsa05205; R-HSA-195721; R-HSA-3858494; hsa04726; R-HSA-2871809; hsa04921; R-HSA-112043; hsa04742; R-HSA-1280218; hsa04210; R-HSA-1643685; hsa04114; hsa04625; hsa04912; hsa04720; R-HSA-2029485; hsa04723; R-HSA-418594; hsa04621; R-HSA-418346; hsa04371
1 combination linked to ITPR3 OLI932
1 variant linked to ITPR3 ITPR3:c.4862T>C, p.Leu1621Pro
1 disease linked to ITPR3 Rare pervasive developmental disorder
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