CACNG3

CACNG3
Identifiers
Aliases	CACNG3 , calcium voltage-gated channel auxiliary subunit gamma 3
External IDs	OMIM: 606403 MGI: 1859165 HomoloGene: 4767 GeneCards: CACNG3
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p12.1 Start 24,256,335 bp [1] End 24,362,412 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 F2 Start 122,269,715 bp [2] End 122,368,616 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 10 Brodmann area 46 orbitofrontal cortex Region I of hippocampus proper dorsolateral prefrontal cortex superior frontal gyrus postcentral gyrus cingulate gyrus Brodmann area 9 entorhinal cortex Top expressed in superior frontal gyrus prefrontal cortex piriform cortex primary motor cortex olfactory tubercle cingulate gyrus temporal lobe hippocampus proper nucleus accumbens amygdala More reference expression data BioGPS More reference expression data
Gene ontology Molecular function voltage-gated calcium channel activity voltage-gated ion channel activity channel regulator activity calcium channel activity PDZ domain binding ionotropic glutamate receptor binding Cellular component voltage-gated calcium channel complex integral component of membrane endocytic vesicle membrane plasma membrane AMPA glutamate receptor complex membrane somatodendritic compartment dendrite excitatory synapse postsynaptic density membrane Schaffer collateral - CA1 synapse glutamatergic synapse integral component of postsynaptic density membrane Biological process transmission of nerve impulse regulation of ion transmembrane transport ion transport calcium ion transmembrane transport calcium ion transport regulation of AMPA receptor activity protein targeting protein localization positive regulation of AMPA receptor activity neurotransmitter receptor localization to postsynaptic specialization membrane positive regulation of synaptic transmission, glutamatergic neurotransmitter receptor transport, postsynaptic endosome to lysosome postsynaptic neurotransmitter receptor diffusion trapping neurotransmitter receptor internalization cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10368 54376 Ensembl ENSG00000006116 ENSMUSG00000066189 UniProt O60359 Q9JJV5 RefSeq (mRNA) NM_006539 NM_019430 RefSeq (protein) NP_006530 NP_062303 Location (UCSC) Chr 16: 24.26 – 24.36 Mb Chr 7: 122.27 – 122.37 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Voltage-dependent calcium channel gamma-3 subunit is a protein that in humans is encoded by the CACNG3 gene. ^{[5] [6] [7]}

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. This gene is a candidate gene for a familial infantile convulsive disorder with paroxysmal choreoathetosis. ^[7]

See also

• Voltage-dependent calcium channel

References

1. GRCh38: Ensembl release 89: ENSG00000006116 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000066189 - 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. Black JL 3rd, Lennon VA (May 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. doi:10.4065/74.4.357. PMID   10221464.
6. Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD (Nov 1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID   10493829.
7. "Entrez Gene: CACNG3 calcium channel, voltage-dependent, gamma subunit 3".

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. doi: 10.1016/S0021-9258(18)98346-8 . PMID   8387489.
• Burgess DL, Davis CF, Gefrides LA, Noebels JL (2000). "Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication". Genome Res. 9 (12): 1204–13. doi:10.1101/gr.9.12.1204. PMC   311002 . PMID   10613843.
• 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.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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 . PMC   270087 . PMID   14505496.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• 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. PMC   528928 . PMID   15489334.
• Everett KV, Chioza B, Aicardi J, et al. (2007). "Linkage and association analysis of CACNG3 in childhood absence epilepsy". Eur. J. Hum. Genet. 15 (4): 463–72. doi:10.1038/sj.ejhg.5201783. PMC   2556708 . PMID   17264864.

External links

• CACNG3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• CACNG3 human gene location in the UCSC Genome Browser .
• CACNG3 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.