CACNB4

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

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)[1] Band 2q23.3 Start 151,832,771 bp[1] End 152,099,167 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C1.1|2 29.98 cM Start 52,428,320 bp[2] End 52,676,831 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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_001330113 NM_001330114 NM_001330115 NM_001330116 NM_001330117 NM_001330118 NM_001037099 NM_001285426 NM_001285427 NM_001285428 NM_146123 NM_001355059 RefSeq (protein) 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 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

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

• Voltage-dependent calcium channel