CACNG2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
CACNG2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CACNG2, MRD10, calcium voltage-gated channel auxiliary subunit gamma 2
External IDs MGI: 1316660 HomoloGene: 4432 GeneCards: 10369
RNA expression pattern
PBB GE CACNG2 214495 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006078

NM_007583

RefSeq (protein)

NP_006069.1

NP_031609.1

Location (UCSC) Chr 22: 36.56 – 36.7 Mb Chr 15: 77.99 – 78.12 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Calcium channel, voltage-dependent, gamma subunit 2, also known as CACNG2 or stargazin is a protein that in humans is encoded by the CACNG2 gene.[1]

Function[edit]

L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This protein is similar to the mouse stargazin protein, mutations in which having been associated with absence seizures, also known as petit-mal or spike-wave seizures. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family.[1]

Stargazin is involved in the transportation of AMPA receptors to the synaptic membrane, and the regulation of their receptor rate constants — via its extracellular domain — once it is there. As it is highly expressed throughout the cerebral cortex, it is likely to have an important role in learning within these areas, due to the importance of AMPA receptors in LTP.

Clinical significance[edit]

Disruptions of CACNG2 have been implicated in autism.[2]

Interactions[edit]

CACNG2 has been shown to interact with GRIA4[3] and DLG4.,[3][4] MAGI2 [5]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: CACNG2 calcium channel, voltage-dependent, gamma subunit 2". 
  2. ^ Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, et al. (24 March 2016). "Frequency and Complexity of De Novo Structural Mutation in Autism". The American Journal of Human Genetics 98 (4): 1-13. doi:10.1016/j.ajhg.2016.02.018. 
  3. ^ a b Chen L, Chetkovich DM, Petralia RS, Sweeney NT, Kawasaki Y, Wenthold RJ, Bredt DS, Nicoll RA (2000). "Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms". Nature 408 (6815): 936–43. doi:10.1038/35050030. PMID 11140673. 
  4. ^ Choi J, Ko J, Park E, Lee JR, Yoon J, Lim S, Kim E (Apr 2002). "Phosphorylation of stargazin by protein kinase A regulates its interaction with PSD-95". The Journal of Biological Chemistry 277 (14): 12359–63. doi:10.1074/jbc.M200528200. PMID 11805122. 
  5. ^ Deng F, Price MG, Davis CF, Mori M, Burgess DL (Jul 2006). "Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain". The Journal of Neuroscience 26 (30): 7875–84. doi:10.1523/JNEUROSCI.1851-06.2006. PMID 16870733. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.