KEGG   NETWORK: N00960
Entry
N00960                      Network                                

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
nt06410 Calcium signaling
nt06462 Spinocerebellar ataxia
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
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
C00076  Calcium cation
Reference
  Authors
Mark MD, Schwitalla JC, Groemmke M, Herlitze S
  Title
Keeping Our Calcium in Balance to Maintain Our Balance.
  Journal
Biochem Biophys Res Commun 483:1040-1050 (2017)
DOI:10.1016/j.bbrc.2016.07.020
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
J Neurosci 34:9891-904 (2014)
DOI:10.1523/JNEUROSCI.0876-14.2014
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
Nat Genet 38:184-90 (2006)
DOI:10.1038/ng1728
Reference
  Authors
Hisatsune C, Hamada K, Mikoshiba K
  Title
Ca(2+) signaling and spinocerebellar ataxia.
  Journal
Biochim Biophys Acta Mol Cell Res 1865:1733-1744 (2018)
DOI:10.1016/j.bbamcr.2018.05.009
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