CACNB4

Last updated
CACNB4
Protein CACNB4 PDB 1vyv.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CACNB4 , CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6, calcium voltage-gated channel auxiliary subunit beta 4
External IDs OMIM: 601949 MGI: 103301 HomoloGene: 20188 GeneCards: CACNB4
Orthologs
SpeciesHumanMouse
Entrez

785

12298

Ensembl

ENSG00000182389

ENSMUSG00000017412

UniProt

O00305

Q8R0S4

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC) Chr 2: 151.83 – 152.1 Mb Chr 2: 52.43 – 52.68 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene. [5] [6]

Function

This gene encodes a member of the beta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein described in this record plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [6]

Clinical significance

Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). [6]

Interactions

CACNB4 has been shown to interact with Cav2.1. [7] [8]

See also

Related Research Articles

Voltage-gated calcium channels (VGCCs), also known as voltage-dependent calcium channels (VDCCs), are a group of voltage-gated ion channels found in the membrane of excitable cells (e.g., muscle, glial cells, neurons, etc.) with a permeability to the calcium ion Ca2+. These channels are slightly permeable to sodium ions, so they are also called Ca2+-Na+ channels, but their permeability to calcium is about 1000-fold greater than to sodium under normal physiological conditions.

Ca<sub>v</sub>1.2 Protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, L type, alpha 1C subunit is a protein that in humans is encoded by the CACNA1C gene. Cav1.2 is a subunit of L-type voltage-dependent calcium channel.

<span class="mw-page-title-main">N-type calcium channel</span> Protein family

N-type calcium channels also called Cav2.2 channels are voltage gated calcium channels that are localized primarily on the nerve terminals and dendrites as well as neuroendocrine cells. The calcium N-channel consists of several subunits: the primary subunit α1B and the auxiliary subunits α2δ and β. The α1B subunit forms the pore through which the calcium enters and helps to determine most of the channel's properties. These channels play an important role in the neurotransmission during development. In the adult nervous system, N-type calcium channels are critically involved in the release of neurotransmitters, and in pain pathways. N-type calcium channels are the target of ziconotide, the drug prescribed to relieve intractable cancer pain. There are many known N-type calcium channel blockers that function to inhibit channel activity, although the most notable blockers are ω-conotoxins.

Ca<sub>v</sub>2.1 Protein-coding gene in the species Homo sapiens

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">CHRNB2</span> Protein-coding gene in the species Homo sapiens

Neuronal acetylcholine receptor subunit beta-2 is a protein that in humans is encoded by the CHRNB2 gene.

Ca<sub>v</sub>1.4 Protein-coding gene in the species Homo sapiens

Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.

<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">KCNMB1</span> Protein-coding gene in the species Homo sapiens

Calcium-activated potassium channel subunit beta-1 is a protein that in humans is encoded by the KCNMB1 gene.

<span class="mw-page-title-main">CACNB2</span> Protein-coding gene in the species Homo sapiens

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">CACNB1</span> Protein-coding gene in the species Homo sapiens

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.

Ca<sub>v</sub>1.3 Protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, L type, alpha 1D subunit is a protein that in humans is encoded by the CACNA1D gene. Cav1.3 channels belong to the Cav1 family, which form L-type calcium currents and are sensitive to selective inhibition by dihydropyridines (DHP).

<span class="mw-page-title-main">CACNB3</span> Protein-coding gene in the species Homo sapiens

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

Calcium-activated potassium channel subunit beta-3 is a protein that in humans is encoded by the KCNMB3 gene.

<span class="mw-page-title-main">CACNA2D1</span> Protein-coding gene in the species Homo sapiens

Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.

<span class="mw-page-title-main">KCNMB4</span>

Calcium-activated potassium channel subunit beta-4 is a protein that in humans is encoded by the KCNMB4 gene.

<span class="mw-page-title-main">Calcium channel, voltage-dependent, T type, alpha 1H subunit</span> Protein-coding gene in the species Homo sapiens

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 the species Homo sapiens

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

<span class="mw-page-title-main">CACNG1</span> Protein-coding gene in the species Homo sapiens

Voltage-dependent calcium channel gamma-1 subunit is a protein that in humans is encoded by the CACNG1 gene.

<span class="mw-page-title-main">CACNA2D2</span> Protein-coding gene in the species Homo sapiens

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000182389 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000017412 - 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. ↑ Escayg A, Jones JM, Kearney JA, Hitchcock PF, Meisler MH (Apr 1999). "Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic". Genomics. 50 (1): 14–22. doi:10.1006/geno.1998.5311. PMID   9628818.
  6. 1 2 3 "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit".
  7. ↑ Walker, D; Bichet D; Campbell K P; De Waard M (Jan 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit". J. Biol. Chem. United States. 273 (4): 2361–7. doi: 10.1074/jbc.273.4.2361 . ISSN   0021-9258. PMID   9442082.
  8. ↑ Walker, D; Bichet D; Geib S; Mori E; Cornet V; Snutch T P; Mori Y; De Waard M (Apr 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation". J. Biol. Chem. United States. 274 (18): 12383–90. doi: 10.1074/jbc.274.18.12383 . ISSN   0021-9258. PMID   10212211.

Further reading

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



This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.