CACNB4

CACNB4
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2D46
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; OMA:CACNB4 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	152,099,167 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	52,676,831 bp
RNA expression pattern
	Top expressed in
	cerebellar vermis; ; lateral nuclear group of thalamus; ; primary visual cortex; ; frontal pole; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; postcentral gyrus; ; paraflocculus of cerebellum; ; prefrontal cortex; ; superior frontal gyrus;
	Top expressed in
	lobe of cerebellum; ; cerebellar vermis; ; inferior colliculi; ; nucleus accumbens; ; lateral geniculate nucleus; ; primary motor cortex; ; medial geniculate nucleus; ; olfactory tubercle; ; lateral septal nucleus; ; prefrontal cortex;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	voltage-gated calcium channel activity; voltage-gated ion channel activity; protein binding; calcium channel activity; high voltage-gated calcium channel activity;
Cellular component	voltage-gated calcium channel complex; cytosol; plasma membrane; synapse; cytoplasmic side of plasma membrane;
Biological process	regulation of voltage-gated calcium channel activity; regulation of ion transmembrane transport; membrane depolarization; ion transport; calcium ion transport; chemical synaptic transmission; neuromuscular junction development; calcium ion transmembrane transport; cardiac conduction;
	Sources:Amigo / QuickGO
Orthologs
	785
	12298
	ENSG00000182389
	ENSMUSG00000017412
	O00305
	Q8R0S4
NM_000726; NM_001005746; NM_001005747; NM_001145798; NM_001320722;
	NM_001330113; NM_001330114; NM_001330115; NM_001330116; NM_001330117; NM_001330118
NM_001037099; NM_001285426; NM_001285427; NM_001285428; NM_146123;
	NM_001355059
NP_000717; NP_001005746; NP_001005747; NP_001139270; NP_001307651;
	NP_001317042; NP_001317043; NP_001317044; NP_001317045; NP_001317046; NP_001317047
NP_001032176; NP_001272355; NP_001272356; NP_001272357; NP_666235;
	NP_001341988
	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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182389 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017412 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b ^c "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit".
^ 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. 273 (4). United States: 2361–7. doi:10.1074/jbc.273.4.2361. ISSN 0021-9258. PMID 9442082.
^ 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. 274 (18). United States: 12383–90. doi:10.1074/jbc.274.18.12383. ISSN 0021-9258. PMID 10212211.

External links

CACNB4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human CACNB4 genome location and CACNB4 gene details page in the UCSC Genome Browser.
Overview of all the structural information available in the PDB for UniProt: O00305 (Voltage-dependent L-type calcium channel subunit beta-4) at the PDBe-KB.

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

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182389 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid9628818-5] 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.

[entrez-6] "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit".

[pmid9442082-7] 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. 273 (4). United States: 2361–7. doi:10.1074/jbc.273.4.2361. ISSN 0021-9258. PMID 9442082.

[pmid10212211-8] 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. 274 (18). United States: 12383–90. doi:10.1074/jbc.274.18.12383. ISSN 0021-9258. PMID 10212211.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]