Entry Name Mutation-caused aberrant SPTBN2 to mGluR1-TRPC3 signaling pathway
Definition SPTBN2* -| GRM1 -> GNAQ -> PLCB -> IP3 -> ITPR -> Ca2+
Expanded 6712v1 -| 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> (3708,3709,3710) -> C00076
Class Type Variant
Pathway Disease H00063 Spinocerebellar ataxia (SCA)
Gene 6712 SPTBN2; spectrin beta, non-erythrocytic 2
2911 GRM1; glutamate metabotropic receptor 1
2776 GNAQ; G protein subunit alpha q
23236 PLCB1; phospholipase C beta 1
5330 PLCB2; phospholipase C beta 2
5331 PLCB3; phospholipase C beta 3
5332 PLCB4; phospholipase C beta 4
3708 ITPR1; inositol 1,4,5-trisphosphate receptor type 1
3709 ITPR2; inositol 1,4,5-trisphosphate receptor type 2
3710 ITPR3; inositol 1,4,5-trisphosphate receptor type 3
Variant 6712v1 (SPTBN2*) SPTBN2 mutation
Metabolite C01245 D-myo-Inositol 1,4,5-trisphosphate
Reference Authors Mark MD, Schwitalla JC, Groemmke M, Herlitze S
Title Keeping Our Calcium in Balance to Maintain Our Balance.
Journal Reference Authors Armbrust KR, Wang X, Hathorn TJ, Cramer SW, Chen G, Zu T, Kangas T, Zink AN, Oz G, Ebner TJ, Ranum LP
Title Mutant beta-III spectrin causes mGluR1alpha mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.
Journal Reference Authors Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP
Title Spectrin mutations cause spinocerebellar ataxia type 5.
Journal Reference Authors Hisatsune C, Hamada K, Mikoshiba K
Title Ca(2+) signaling and spinocerebellar ataxia.
Journal LinkDB All DBs
