CACNG2

Last updated
CACNG2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CACNG2 , MRD10, calcium voltage-gated channel auxiliary subunit gamma 2
External IDs OMIM: 602911; MGI: 1316660; HomoloGene: 4432; GeneCards: CACNG2; OMA:CACNG2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006078
NM_001379051

NM_007583

RefSeq (protein)

NP_006069
NP_001365980

NP_031609

Location (UCSC) Chr 22: 36.56 – 36.7 Mb Chr 15: 77.88 – 78 Mb
PubMed search [3] [4]
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]

Contents

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

Related Research Articles

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<span class="mw-page-title-main">Neuronal calcium sensor-1</span> Neuronal calcium sensory protein

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<span class="mw-page-title-main">DLG4</span> Mammalian protein found in Homo sapiens

PSD-95 also known as SAP-90 is a protein that in humans is encoded by the DLG4 gene.

<span class="mw-page-title-main">STX1A</span> Protein-coding gene in the species Homo sapiens

Syntaxin-1A is a protein that in humans is encoded by the STX1A gene.

<span class="mw-page-title-main">Calcium/calmodulin-dependent protein kinase type II subunit alpha</span> Protein-coding gene in the species Homo sapiens

Calcium/calmodulin-dependent protein kinase type II subunit alpha (CAMKIIα), a.k.a.Ca2+/calmodulin-dependent protein kinase II alpha, is one subunit of CamKII, a protein kinase (i.e., an enzyme which phosphorylates proteins) that in humans is encoded by the CAMK2A gene.

<span class="mw-page-title-main">DLG1</span> Protein-coding gene in the species Homo sapiens

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Ca<sub>v</sub>2.1 Protein found in humans

Cav2.1, also called the P/Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain. Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum. Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons. It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits. The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it. Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit, which is encoded by the CACNA1A gene. Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.

<span class="mw-page-title-main">GNB1</span> Protein-coding gene in the species Homo sapiens

<span class="mw-page-title-main">GRIA1</span> Mammalian protein found in Homo sapiens

Glutamate receptor 1 is a protein that in humans is encoded by the GRIA1 gene.

<span class="mw-page-title-main">GNG2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">CACNB2</span> Protein-coding gene in humans

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.

<span class="mw-page-title-main">GRIA4</span>

Glutamate receptor 4 is a protein that in humans is encoded by the GRIA4 gene.

<span class="mw-page-title-main">GABRR1</span> Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit rho-1 is a protein that in humans is encoded by the GABRR1 gene.

<span class="mw-page-title-main">CACNB4</span> Protein-coding gene in humans

Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene.

<span class="mw-page-title-main">Calcium-binding protein 1</span> Protein found in humans

Calcium binding protein 1 is a protein that in humans is encoded by the CABP1 gene. Calcium-binding protein 1 is a calcium-binding protein discovered in 1999. It has two EF hand motifs and is expressed in neuronal cells in such areas as hippocampus, habenular nucleus of the epithalamus, Purkinje cell layer of the cerebellum, and the amacrine cells and cone bipolar cells of the retina.

<span class="mw-page-title-main">KCNMB2</span> Protein-coding gene in the species Homo sapiens

Calcium-activated potassium channel subunit beta-2 is a protein that in humans is encoded by the KCNMB2 gene.

<span class="mw-page-title-main">CACNG3</span> Protein-coding gene in humans

Voltage-dependent calcium channel gamma-3 subunit is a protein that in humans is encoded by the CACNG3 gene.

<span class="mw-page-title-main">CACNG4</span> Protein-coding gene in humans

Voltage-dependent calcium channel gamma-4 subunit is a protein that in humans is encoded by the CACNG4 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000166862 Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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): 667–679. doi:10.1016/j.ajhg.2016.02.018. PMC   4833290 . PMID   27018473.
  7. 1 2 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. Bibcode:2000Natur.408..936C. doi:10.1038/35050030. PMID   11140673. S2CID   4427689.
  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 . PMC   6674230 . PMID   16870733.

Further reading

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