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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 Plasma proteins 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
2
Cytoband
q23.3
Chromosome location (bp)
151832771 - 152099167
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....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 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]...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 Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy 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:0005829[cytosol] 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:0009898[cytoplasmic side of plasma membrane] GO:0034765[regulation of ion transmembrane transport] GO:0070588[calcium ion transmembrane transport] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy 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:0005829[cytosol] 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:0009898[cytoplasmic side of plasma membrane] GO:0034765[regulation of ion transmembrane transport] GO:0045202[synapse] GO:0070588[calcium ion transmembrane transport] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy 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:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005891[voltage-gated calcium channel complex] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007268[chemical synaptic transmission] GO:0007528[neuromuscular junction development] GO:0007628[adult walking behavior] GO:0008285[negative regulation of cell population proliferation] GO:0008331[high voltage-gated calcium channel activity] GO:0009898[cytoplasmic side of plasma membrane] GO:0014051[gamma-aminobutyric acid secretion] GO:0016607[nuclear speck] GO:0019227[neuronal action potential propagation] GO:0019901[protein kinase binding] GO:0034765[regulation of ion transmembrane transport] GO:0035249[synaptic transmission, glutamatergic] GO:0042391[regulation of membrane potential] GO:0046058[cAMP metabolic process] GO:0048536[spleen development] GO:0048538[thymus development] GO:0048541[Peyer's patch development] GO:0050852[T cell receptor signaling pathway] GO:0050877[nervous system process] GO:0050908[detection of light stimulus involved in visual perception] GO:0055001[muscle cell development] GO:0070588[calcium ion transmembrane transport] GO:0098793[presynapse] GO:0098978[glutamatergic synapse] 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:1901387[positive regulation of voltage-gated calcium channel activity] GO:1904751[positive regulation of protein localization to nucleolus] GO:1990830[cellular response to leukemia inhibitory factor] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle] GO:2000300[regulation of synaptic vesicle exocytosis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy 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:0005829[cytosol] 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:0009898[cytoplasmic side of plasma membrane] GO:0034765[regulation of ion transmembrane transport] GO:0070588[calcium ion transmembrane transport] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:1901385[regulation of voltage-gated calcium channel activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Epilepsy