CACNG2

Calcium channel, voltage-dependent, gamma subunit 2

Identifiers

CACNG2 ; MRD10

External IDs

OMIM: 602911 MGI: 1316660 HomoloGene: 4432 GeneCards: CACNG2 Gene

Gene ontology
Molecular function	• voltage-gated calcium channel activity • protein binding • channel regulator activity • ionotropic glutamate receptor binding
Cellular component	• plasma membrane • voltage-gated calcium channel complex • endocytic vesicle membrane • AMPA glutamate receptor complex
Biological process	• transport • synaptic transmission • neuromuscular junction development • transmission of nerve impulse • membrane depolarization • membrane hyperpolarization • calcium ion transmembrane transport • regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 22:
36.56 – 36.7 Mb

Chr 15:
77.99 – 78.12 Mb

PubMed search

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.^[1]

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.^[1]

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.^[2]

Interactions

CACNG2 has been shown to interact with GRIA4^[3] and DLG4.,^[3]^[4] MAGI2 ^[5]

References

1 2 "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.
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. 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.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3

Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ

Proton-gated	Amiloride-sensitive cation channel 1 2 3 4

Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1

Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1

Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18

Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker gene

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B

H⁺: Proton channel	HVCN1

M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4

M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6

H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family

Cytoplasm: Gap junction	Connexin: A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4) Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

This article is issued from Wikipedia - version of the Thursday, March 24, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.