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CACNG2 

Calcium channel, voltage-dependent, gamma subunit 2
Identifiers
Symbols CACNG2; MGC138502; MGC138504
External IDs OMIM: 602911 MGI1316660 HomoloGene4432
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 10369 12300
Ensembl ENSG00000166862 ENSMUSG00000019146
Uniprot Q9Y698 Q3ZB20
Refseq NM_006078 (mRNA)
NP_006069 (protein)
NM_007583 (mRNA)
NP_031609 (protein)
Location Chr 22: 35.29 - 35.43 Mb Chr 15: 77.82 - 77.95 Mb
Pubmed search [1] [2]

Calcium channel, voltage-dependent, gamma subunit 2, also known as CACNG2, is a human gene.[1]

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 have 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]

Contents

See also

References

Further reading

  • Powers PA, Liu S, Hogan K, Gregg RG (1993). "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.". J. Biol. Chem. 268 (13): 9275–9. PMID 8387489. 
  • Black JL, Lennon VA (1999). "Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications.". Mayo Clin. Proc. 74 (4): 357–61. PMID 10221464. 
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
  • Burgess DL, Matsuura T, Ashizawa T, Noebels JL (2000). "Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13.". Epilepsia 41 (1): 24–7. PMID 10643919. 
  • Chen L, Chetkovich DM, Petralia RS, et al. (2001). "Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms.". Nature 408 (6815): 936–43. doi:10.1038/35050030. PMID 11140673. 
  • Burgess DL, Gefrides LA, Foreman PJ, Noebels JL (2001). "A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family.". Genomics 71 (3): 339–50. doi:10.1006/geno.2000.6440. PMID 11170751. 
  • Choi J, Ko J, Park E, et al. (2002). "Phosphorylation of stargazin by protein kinase A regulates its interaction with PSD-95.". J. Biol. Chem. 277 (14): 12359–63. doi:10.1074/jbc.M200528200. PMID 11805122. 
  • Schnell E, Sizemore M, Karimzadegan S, et al. (2002). "Direct interactions between PSD-95 and stargazin control synaptic AMPA receptor number.". Proc. Natl. Acad. Sci. U.S.A. 99 (21): 13902–7. doi:10.1073/pnas.172511199. PMID 12359873. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Moss FJ, Dolphin AC, Clare JJ (2004). "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.". BMC neuroscience 4: 23. doi:10.1186/1471-2202-4-23. PMID 14505496. 
  • Tomita S, Fukata M, Nicoll RA, Bredt DS (2004). "Dynamic interaction of stargazin-like TARPs with cycling AMPA receptors at synapses.". Science 303 (5663): 1508–11. doi:10.1126/science.1090262. PMID 15001777. 
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Yamazaki M, Ohno-Shosaku T, Fukaya M, et al. (2005). "A novel action of stargazin as an enhancer of AMPA receptor activity.". Neurosci. Res. 50 (4): 369–74. doi:10.1016/j.neures.2004.10.002. PMID 15567474. 
  • Priel A, Kolleker A, Ayalon G, et al. (2006). "Stargazin reduces desensitization and slows deactivation of the AMPA-type glutamate receptors.". J. Neurosci. 25 (10): 2682–6. doi:10.1523/JNEUROSCI.4834-04.2005. PMID 15758178. 
  • Stiffler MA, Grantcharova VP, Sevecka M, MacBeath G (2007). "Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays.". J. Am. Chem. Soc. 128 (17): 5913–22. doi:10.1021/ja060943h. PMID 16637659. 
  • Bedoukian MA, Weeks AM, Partin KM (2006). "Different domains of the AMPA receptor direct stargazin-mediated trafficking and stargazin-mediated modulation of kinetics.". J. Biol. Chem. 281 (33): 23908–21. doi:10.1074/jbc.M600679200. PMID 16793768. 
  • Körber C, Werner M, Hoffmann J, et al. (2007). "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.". J. Biol. Chem. 282 (26): 18758–66. doi:10.1074/jbc.M611182200. PMID 17483093. 

External links

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

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