CACNB4

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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 MGI: 103301 HomoloGene: 20188 GeneCards: 785
RNA expression pattern
PBB GE CACNB4 207693 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000726
NM_001005746
NM_001005747
NM_001145798
NM_001320722

NM_001037099
NM_001285426
NM_001285427
NM_001285428
NM_146123

RefSeq (protein)

NP_000717.2
NP_001005746.1
NP_001005747.1
NP_001139270.1

NP_001032176.1
NP_001272356.1
NP_666235.1

Location (UCSC) Chr 2: 151.83 – 152.1 Mb Chr 2: 52.43 – 52.68 Mb
PubMed search [1] [2]
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.[1][2]

Function[edit]

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.[2]

Clinical significance[edit]

Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME).[2]

Interactions[edit]

CACNB4 has been shown to interact with Cav2.1.[3][4]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ a b c "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit". 
  3. ^ 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. 
  4. ^ 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[edit]

External links[edit]

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