View source for Biology:CACNG2

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Calcium channel, voltage-dependent, gamma subunit 2''', also known as '''CACNG2''' or '''stargazin''' is a [[Biology:Protein|protein]] that in humans is encoded by the ''CACNG2'' [[Biology:Gene|gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CACNG2 calcium channel, voltage-dependent, gamma subunit 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10369}}</ref>

== Function ==
[[Biology:L-type calcium channel|L-type calcium channel]]s 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 [[Biology:Integral membrane protein|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 [[Biology:Peripheral myelin protein 22|PMP-22]]/EMP/MP20 family.<ref name="entrez"/>

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 [[Biology:Long-term potentiation|LTP]].

== Clinical significance ==

Disruptions of ''CACNG2'' have been implicated in [[Medicine:Autism|autism]].<ref>{{cite journal|last1=Brandler|first1=William M.|last2=Antaki|first2=Danny|last3=Gujral|first3=Madhusudan|last4=Noor|first4=Amina|last5=Rosanio|first5=Gabriel|last6=Chapman|first6=Timothy R.|last7=Barrera|first7=Daniel J.|last8=Lin|first8=Guan Ning|last9=Malhotra|first9=Dheeraj|last10=Watts|first10=Amanda C.|last11=Wong|first11=Lawrence C.|last12=Estabillo|first12=Jasper A.|last13=Gadomski|first13=Therese E.|last14=Hong|first14=Oanh|last15=Fajardo|first15=Karin V. Fuentes|last16=Bhandari|first16=Abhishek|last17=Owen|first17=Renius|last18=Baughn|first18=Michael|last19=Yuan|first19=Jeffrey|last20=Solomon|first20=Terry|last21=Moyzis|first21=Alexandra G.|last22=Maile|first22=Michelle S.|last23=Sanders|first23=Stephan J.|last24=Reiner|first24=Gail E.|last25=Vaux|first25=Keith K.|last26=Strom|first26=Charles M.|last27=Zhang|first27=Kang|last28=Muotri|first28=Alysson R.|last29=Akshoomoff|first29=Natacha|last30=Leal|first30=Suzanne M.|last31=Pierce|first31=Karen|last32=Courchesne|first32=Eric|last33=Iakoucheva|first33=Lilia M.|last34=Corsello|first34=Christina|last35=Sebat|first35=Jonathan|title=Frequency and Complexity of De Novo Structural Mutation in Autism|journal=The American Journal of Human Genetics|date=24 March 2016|volume=98|issue=4|pages=667–679|doi=10.1016/j.ajhg.2016.02.018 | name-list-style = vanc | display-authors = 6|pmid=27018473|pmc=4833290}}</ref>

== Interactions ==

CACNG2 has been shown to interact with [[Biology:GRIA4|GRIA4]],<ref name=pmid11140673>{{cite journal | vauthors = Chen L, Chetkovich DM, Petralia RS, Sweeney NT, Kawasaki Y, Wenthold RJ, Bredt DS, Nicoll RA | title = Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms | journal = Nature | volume = 408 | issue = 6815 | pages = 936–43 | year = 2000 | pmid = 11140673 | doi = 10.1038/35050030 | bibcode = 2000Natur.408..936C | s2cid = 4427689 }}</ref> [[Biology:DLG4|DLG4]],<ref name=pmid11140673/><ref name=pmid11805122>{{cite journal | vauthors = Choi J, Ko J, Park E, Lee JR, Yoon J, Lim S, Kim E | title = Phosphorylation of stargazin by protein kinase A regulates its interaction with PSD-95 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 14 | pages = 12359–63 | date = Apr 2002 | pmid = 11805122 | doi = 10.1074/jbc.M200528200 | doi-access = free }}</ref> and MAGI2.<ref>{{cite journal | vauthors = Deng F, Price MG, Davis CF, Mori M, Burgess DL | title = Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain | journal = The Journal of Neuroscience | volume = 26 | issue = 30 | pages = 7875–84 | date = Jul 2006 | pmid = 16870733 | doi = 10.1523/JNEUROSCI.1851-06.2006 | pmc = 6674230 | doi-access = free }}</ref>

== See also ==
* Voltage-dependent calcium channel

== References ==
{{reflist|33em}}

== Further reading ==
{{refbegin|33em}}
* {{cite journal | vauthors = Powers PA, Liu S, Hogan K, Gregg RG | title = Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location | journal = The Journal of Biological Chemistry | volume = 268 | issue = 13 | pages = 9275–9 | date = May 1993 | doi = 10.1016/S0021-9258(18)98346-8 | pmid = 8387489 | doi-access = free }}
* {{cite journal | vauthors = Black JL, Lennon VA | title = Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications | journal = Mayo Clinic Proceedings | volume = 74 | issue = 4 | pages = 357–61 | date = Apr 1999 | pmid = 10221464 | doi = 10.4065/74.4.357 }}
* {{cite journal | vauthors = Burgess DL, Matsuura T, Ashizawa T, Noebels JL | title = Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13 | journal = Epilepsia | volume = 41 | issue = 1 | pages = 24–7 | date = Jan 2000 | pmid = 10643919 | doi = 10.1111/j.1528-1157.2000.tb01500.x | doi-access = free }}
* {{cite journal | vauthors = Chen L, Chetkovich DM, Petralia RS, Sweeney NT, Kawasaki Y, Wenthold RJ, Bredt DS, Nicoll RA | title = Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms | journal = Nature | volume = 408 | issue = 6815 | pages = 936–43 | year = 2001 | pmid = 11140673 | doi = 10.1038/35050030 | bibcode = 2000Natur.408..936C | s2cid = 4427689 }}
* {{cite journal | vauthors = Burgess DL, Gefrides LA, Foreman PJ, Noebels JL | title = A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family | journal = Genomics | volume = 71 | issue = 3 | pages = 339–50 | date = Feb 2001 | pmid = 11170751 | doi = 10.1006/geno.2000.6440 }}
* {{cite journal | vauthors = Choi J, Ko J, Park E, Lee JR, Yoon J, Lim S, Kim E | title = Phosphorylation of stargazin by protein kinase A regulates its interaction with PSD-95 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 14 | pages = 12359–63 | date = Apr 2002 | pmid = 11805122 | doi = 10.1074/jbc.M200528200 | doi-access = free }}
* {{cite journal | vauthors = Schnell E, Sizemore M, Karimzadegan S, Chen L, Bredt DS, Nicoll RA | title = Direct interactions between PSD-95 and stargazin control synaptic AMPA receptor number | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 21 | pages = 13902–7 | date = Oct 2002 | pmid = 12359873 | pmc = 129795 | doi = 10.1073/pnas.172511199 | bibcode = 2002PNAS...9913902S | doi-access = free }}
* {{cite journal | vauthors = Moss FJ, Dolphin AC, Clare JJ | title = Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes | journal = BMC Neuroscience | volume = 4 | pages = 23 | date = Sep 2003 | pmid = 14505496 | pmc = 270087 | doi = 10.1186/1471-2202-4-23 | doi-access = free }}
* {{cite journal | vauthors = Tomita S, Fukata M, Nicoll RA, Bredt DS | title = Dynamic interaction of stargazin-like TARPs with cycling AMPA receptors at synapses | journal = Science | volume = 303 | issue = 5663 | pages = 1508–11 | date = Mar 2004 | pmid = 15001777 | doi = 10.1126/science.1090262 | bibcode = 2004Sci...303.1508T | s2cid = 46012559 }}
* {{cite journal | vauthors = Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biology | volume = 5 | issue = 10 | pages = R84 | year = 2005 | pmid = 15461802 | pmc = 545604 | doi = 10.1186/gb-2004-5-10-r84 | doi-access = free }}
* {{cite journal | vauthors = Yamazaki M, Ohno-Shosaku T, Fukaya M, Kano M, Watanabe M, Sakimura K | title = A novel action of stargazin as an enhancer of AMPA receptor activity | journal = Neuroscience Research | volume = 50 | issue = 4 | pages = 369–74 | date = Dec 2004 | pmid = 15567474 | doi = 10.1016/j.neures.2004.10.002 | s2cid = 407088 }}
* {{cite journal | vauthors = Priel A, Kolleker A, Ayalon G, Gillor M, Osten P, Stern-Bach Y | title = Stargazin reduces desensitization and slows deactivation of the AMPA-type glutamate receptors | journal = The Journal of Neuroscience | volume = 25 | issue = 10 | pages = 2682–6 | date = Mar 2005 | pmid = 15758178 | doi = 10.1523/JNEUROSCI.4834-04.2005 | pmc = 6725153 | doi-access = free }}
* {{cite journal | vauthors = Stiffler MA, Grantcharova VP, Sevecka M, MacBeath G | title = Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays | journal = Journal of the American Chemical Society | volume = 128 | issue = 17 | pages = 5913–22 | date = May 2006 | pmid = 16637659 | pmc = 2533859 | doi = 10.1021/ja060943h }}
* {{cite journal | vauthors = Bedoukian MA, Weeks AM, Partin KM | title = Different domains of the AMPA receptor direct stargazin-mediated trafficking and stargazin-mediated modulation of kinetics | journal = The Journal of Biological Chemistry | volume = 281 | issue = 33 | pages = 23908–21 | date = Aug 2006 | pmid = 16793768 | doi = 10.1074/jbc.M600679200 | doi-access = free }}
* {{cite journal | vauthors = Körber C, Werner M, Hoffmann J, Sager C, Tietze M, Schmid SM, Kott S, Hollmann M | title = Stargazin interaction with alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors is critically dependent on the amino acid at the narrow constriction of the ion channel | journal = The Journal of Biological Chemistry | volume = 282 | issue = 26 | pages = 18758–66 | date = Jun 2007 | pmid = 17483093 | doi = 10.1074/jbc.M611182200 | doi-access = free }}
{{refend}}

== External links ==
* {{MeshName|CACNG2+protein,+human}}
* {{UCSC genome browser|CACNG2}}
* {{UCSC gene details|CACNG2}}

{{NLM content}}
{{Ion channels|g1}}

{{DEFAULTSORT:Cacng2}}
[[Category:Ion channels]]



{{Sourceattribution|CACNG2}}