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CACNB4

CACNB4
Protein CACNB4 PDB 1vyv.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCACNB4, CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6, calcium voltage-gated channel auxiliary subunit beta 4
External IDsOMIM: 601949 MGI: 103301 HomoloGene: 20188 GeneCards: CACNB4
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for CACNB4
Genomic location for CACNB4
Band2q23.3Start151,832,768 bp[1]
End152,099,475 bp[1]
RNA expression pattern
PBB GE CACNB4 207693 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 2: 151.83 – 152.1 MbChr 2: 52.43 – 52.68 Mb
PubMed search[3][4]
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.[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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182389 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "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

External links

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