CACNG3

Last updated
CACNG3
Identifiers
Aliases CACNG3 , calcium voltage-gated channel auxiliary subunit gamma 3
External IDs OMIM: 606403; MGI: 1859165; HomoloGene: 4767; GeneCards: CACNG3; OMA:CACNG3 - orthologs
Orthologs
SpeciesHumanMouse
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]

Contents

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

Related Research Articles

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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.

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—

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

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 is a protein that in humans is encoded by the GNG2 gene.

<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">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">CACNB1</span> Protein-coding gene in humans

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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.

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Voltage-dependent L-type calcium channel subunit beta-3 is a protein that in humans is encoded by the CACNB3 gene.

<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">KCNMB3</span> Protein-coding gene in the species Homo sapiens

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Calcium channel, voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a protein which in humans is encoded by the CACNA1H 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.

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<span class="mw-page-title-main">CACNA2D2</span> Protein-coding gene in humans

Voltage-dependent calcium channel subunit alpha2delta-2 is a protein that in humans is encoded by the CACNA2D2 gene.

<span class="mw-page-title-main">CACNA1G</span> Protein-coding gene in humans

Calcium channel, voltage-dependent, T type, alpha 1G subunit, also known as CACNA1G or Cav3.1 is a protein which in humans is encoded by the CACNA1G gene. It is one of the primary targets in the pharmacology of absence seizure.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000006116 – Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: CACNG3 calcium channel, voltage-dependent, gamma subunit 3".

Further reading

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


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