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CACNG2

CACNG2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCACNG2, MRD10, calcium voltage-gated channel auxiliary subunit gamma 2
External IDsOMIM: 602911 MGI: 1316660 HomoloGene: 4432 GeneCards: CACNG2
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for CACNG2
Genomic location for CACNG2
Band22q12.3Start36,563,921 bp[1]
End36,703,558 bp[1]
RNA expression pattern
PBB GE CACNG2 214495 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006078

NM_007583

RefSeq (protein)

NP_006069

NP_031609

Location (UCSC)Chr 22: 36.56 – 36.7 MbChr 15: 77.99 – 78.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5]

Function

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.[5]

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

Disruptions of CACNG2 have been implicated in autism.[6]

Interactions

CACNG2 has been shown to interact with GRIA4,[7] DLG4,[7][8] and MAGI2.[9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166862 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019146 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: CACNG2 calcium channel, voltage-dependent, gamma subunit 2".
  6. ^ 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. PMC 4833290. PMID 27018473.
  7. ^ 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.
  8. ^ 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.
  9. ^ 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

External links

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