CACNB4

CACNB4
Available structures
PDBOrtholog 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: CACNB4
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

785

12298

Ensembl

ENSG00000182389

ENSMUSG00000017412

UniProt

O00305

Q8R0S4

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_001307651.1

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 HumanView/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene.[3][4]

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.[4]

Clinical significance

Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME).[4]

Interactions

CACNB4 has been shown to interact with Cav2.1.[5][6]

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 1 2 3 "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit".
  5. 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.
  6. 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

External links

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


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