CACNG2

CACNG2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3JXT
Identifiers
Aliases	CACNG2, MRD10, calcium voltage-gated channel auxiliary subunit gamma 2
External IDs	OMIM: 602911 MGI: 1316660 HomoloGene: 4432 GeneCards: CACNG2
Gene location (Human)
Chr.	Chromosome 22 (human)[1]
End	36,703,558 bp[1]
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)[2]
End	78,120,028 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• voltage-gated ion channel activity; • GO:0001948 protein binding; • channel regulator activity; • calcium channel activity; • voltage-gated calcium channel activity; • ionotropic glutamate receptor binding;
Cellular component	• voltage-gated calcium channel complex; • integral component of membrane; • endocytic vesicle membrane; • membrane; • cell membrane; • AMPA glutamate receptor complex; • cell junction; • neuron projection; • synapse; • postsynaptic density membrane; • somatodendritic compartment; • cytosol; • cell surface; • GO:0097483, GO:0097481 postsynaptic density; • cerebellar mossy fiber; • Schaffer collateral - CA1 synapse; • hippocampal mossy fiber to CA3 synapse; • glutamatergic synapse; • integral component of postsynaptic density membrane;
Biological process	• membrane hyperpolarization; • transmission of nerve impulse; • regulation of membrane potential; • regulation of ion transmembrane transport; • membrane depolarization; • nervous system process; • ion transport; • regulation of AMPA receptor activity; • neuromuscular junction development; • calcium ion transport; • calcium ion transmembrane transport; • neurotransmitter receptor transport, postsynaptic endosome to lysosome; • postsynaptic neurotransmitter receptor diffusion trapping; • neurotransmitter receptor internalization; • protein targeting to membrane; • response to calcium ion; • eye blink reflex; • positive regulation of protein localization to basolateral plasma membrane; • positive regulation of AMPA receptor activity; • regulation of postsynaptic membrane neurotransmitter receptor levels; • neurotransmitter receptor localization to postsynaptic specialization membrane; • positive regulation of synaptic transmission, glutamatergic; • cardiac conduction;
	Sources:Amigo / QuickGO
Orthologs
	10369
	12300
	ENSG00000166862
	ENSMUSG00000019146
	Q9Y698
	O88602
	NM_006078; NM_001379051
	NM_007583
	NP_006069; NP_001365980
	NP_031609
	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.[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]

gollark: Technically no, if you know all the other participants and their order.

gollark: I couldn't make it work properly, so I'm working on other things instead.

gollark: ```The "apiomemetics" strategy will be as follows:- if this is the first turn, fork process- if you are the parent process, wait for the child to terminate- if child, use a strategy and see how well it goes- at 100th turn (matches are AT LEAST this long), if child, send message to parent via shared memory and exit- repeat with different strategy- store best strategy against current opponent somewhere, use on all subsequent turns```

gollark: And also it infinitely loops somehow.

gollark: Right now it doesn't actually test it.

References

GRCh38: Ensembl release 89: ENSG00000166862 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000019146 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: CACNG2 calcium channel, voltage-dependent, gamma subunit 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. PMC 4833290. PMID 27018473.
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.
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.
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.

External links

CACNG2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
CACNG2 human gene location in the UCSC Genome Browser.
CACNG2 human gene details in the UCSC Genome Browser.

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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166862 - Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[entrez-5] "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.

[pmid11140673-7] 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.

[pmid11805122-8] 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.