KEGG NETWORK: N00960

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

nt06462 Spinocerebellar ataxia
nt06466 Pathways of neurodegeneration

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

PMID:27392710

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

PMID:25057192

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

PMID:16429157

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

PMID:29777722

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

All links

Pathway (1)   
   KEGG PATHWAY (1)   
Network (1)   
   KEGG VARIANT (1)   
Chemical substance (2)   
   KEGG COMPOUND (2)   
Gene (10)   
   KEGG GENES (10)   
Literature (4)   
   PubMed (4)   
All databases (18)   

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