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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes FDA approved drug targets Human disease related genes Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
10
Cytoband
Chromosome location (bp)
18140424 - 18543557
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current (By similarity). Plays a role in shifting voltage dependencies of activation and inactivation of the channel (By similarity). May modulate G protein inhibition (By similarity). May contribute to beta-adrenergic augmentation of Ca(2+) influx in cardiomyocytes, thereby regulating increases in heart rate and contractile force 1. Involved in membrane targeting of the alpha-1 subunit CACNA1C 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Calcium channel, Ion channel, Voltage-gated channel
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Calcium transport, Ion transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0007601[visual perception] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098684[photoreceptor ribbon synapse] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:0099626[voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005891[voltage-gated calcium channel complex] GO:0006816[calcium ion transport] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0070588[calcium ion transmembrane transport]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005891[voltage-gated calcium channel complex] GO:0006816[calcium ion transport] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0070588[calcium ion transmembrane transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005891[voltage-gated calcium channel complex] GO:0006816[calcium ion transport] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0070588[calcium ion transmembrane transport]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0008331[high voltage-gated calcium channel activity] GO:0016020[membrane] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0051015[actin filament binding] GO:0051928[positive regulation of calcium ion transport] GO:0070509[calcium ion import] GO:0070588[calcium ion transmembrane transport] GO:0072659[protein localization to plasma membrane] GO:0086007[voltage-gated calcium channel activity involved in cardiac muscle cell action potential] GO:0086045[membrane depolarization during AV node cell action potential] GO:0086056[voltage-gated calcium channel activity involved in AV node cell action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:0098793[presynapse] GO:0098912[membrane depolarization during atrial cardiac muscle cell action potential] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity] GO:1901843[positive regulation of high voltage-gated calcium channel activity] GO:1904879[positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1990454[L-type voltage-gated calcium channel complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005891[voltage-gated calcium channel complex] GO:0006816[calcium ion transport] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0070588[calcium ion transmembrane transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Show all
GO:0005244[voltage-gated ion channel activity] GO:0005245[voltage-gated calcium channel activity] GO:0005262[calcium channel activity] GO:0005515[protein binding] GO:0005891[voltage-gated calcium channel complex] GO:0006816[calcium ion transport] GO:0034765[regulation of ion transmembrane transport] GO:0042383[sarcolemma] GO:0070588[calcium ion transmembrane transport]