Description: Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA. RefSeq Summary (NM_000726): This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. 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 encoded by this locus 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. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]. Transcript (Including UTRs) Position: hg19 chr2:152,689,286-152,955,593 Size: 266,308 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr2:152,695,633-152,955,525 Size: 259,893 Coding Exon Count: 14
ID:CACB4_HUMAN DESCRIPTION: RecName: Full=Voltage-dependent L-type calcium channel subunit beta-4; Short=CAB4; AltName: Full=Calcium channel voltage-dependent subunit beta 4; FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. SUBUNIT: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with FASLG. INTERACTION: P21579:SYT1; NbExp=2; IntAct=EBI-714855, EBI-524909; TISSUE SPECIFICITY: Expressed predominantly in the cerebellum and kidney. DISEASE: Defects in CACNB4 are the cause of susceptibility to epilepsy, idiopathic generalized type 9 (EIG9) [MIM:607682]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. DISEASE: Defects in CACNB4 are the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6) [MIM:607682]. EJM6 is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. DISEASE: Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5) [MIM:613855]. EA5 is a disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. SIMILARITY: Belongs to the calcium channel beta subunit family. SIMILARITY: Contains 1 SH3 domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNB4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00305
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005244 voltage-gated ion channel activity GO:0005245 voltage-gated calcium channel activity GO:0005262 calcium channel activity GO:0005515 protein binding GO:0008331 high voltage-gated calcium channel activity
Biological Process: GO:0006811 ion transport GO:0006816 calcium ion transport GO:0007268 chemical synaptic transmission GO:0007528 neuromuscular junction development GO:0034765 regulation of ion transmembrane transport GO:0051899 membrane depolarization GO:0070588 calcium ion transmembrane transport GO:1901385 regulation of voltage-gated calcium channel activity
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