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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.
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
7
Cytoband
q21.12
Chromosome location (bp)
88205115 - 88226993
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001508[action potential] GO:0002020[protease binding] GO:0005102[signaling receptor binding] GO:0005246[calcium channel regulator activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006816[calcium ion transport] GO:0006880[intracellular sequestering of iron ion] GO:0006942[regulation of striated muscle contraction] GO:0007165[signal transduction] GO:0007507[heart development] GO:0007517[muscle organ development] GO:0008016[regulation of heart contraction] GO:0010459[negative regulation of heart rate] GO:0010649[regulation of cell communication by electrical coupling] GO:0010880[regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0030018[Z disc] GO:0030315[T-tubule] GO:0031982[vesicle] GO:0033017[sarcoplasmic reticulum membrane] GO:0035774[positive regulation of insulin secretion involved in cellular response to glucose stimulus] GO:0042584[chromaffin granule membrane] GO:0042802[identical protein binding] GO:0042994[cytoplasmic sequestering of transcription factor] GO:0044325[transmembrane transporter binding] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0051281[positive regulation of release of sequestered calcium ion into cytosol] GO:0051924[regulation of calcium ion transport] GO:0055118[negative regulation of cardiac muscle contraction] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0070062[extracellular exosome] GO:0086004[regulation of cardiac muscle cell contraction] GO:0140297[DNA-binding transcription factor binding] GO:1901077[regulation of relaxation of muscle] GO:1901841[regulation of high voltage-gated calcium channel activity] GO:1901844[regulation of cell communication by electrical coupling involved in cardiac conduction] GO:2000678[negative regulation of transcription regulatory region DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001508[action potential] GO:0002020[protease binding] GO:0005102[signaling receptor binding] GO:0005246[calcium channel regulator activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006880[intracellular sequestering of iron ion] GO:0006942[regulation of striated muscle contraction] GO:0007165[signal transduction] GO:0007507[heart development] GO:0007517[muscle organ development] GO:0008016[regulation of heart contraction] GO:0010459[negative regulation of heart rate] GO:0010649[regulation of cell communication by electrical coupling] GO:0010880[regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0030018[Z disc] GO:0030315[T-tubule] GO:0033017[sarcoplasmic reticulum membrane] GO:0042584[chromaffin granule membrane] GO:0044325[transmembrane transporter binding] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0051924[regulation of calcium ion transport] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0070062[extracellular exosome] GO:0086004[regulation of cardiac muscle cell contraction] GO:1901077[regulation of relaxation of muscle] GO:1901841[regulation of high voltage-gated calcium channel activity] GO:1901844[regulation of cell communication by electrical coupling involved in cardiac conduction]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001508[action potential] GO:0002020[protease binding] GO:0005102[signaling receptor binding] GO:0005246[calcium channel regulator activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006880[intracellular sequestering of iron ion] GO:0006942[regulation of striated muscle contraction] GO:0007165[signal transduction] GO:0007507[heart development] GO:0007517[muscle organ development] GO:0008016[regulation of heart contraction] GO:0010459[negative regulation of heart rate] GO:0010649[regulation of cell communication by electrical coupling] GO:0010880[regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0030018[Z disc] GO:0030315[T-tubule] GO:0033017[sarcoplasmic reticulum membrane] GO:0042584[chromaffin granule membrane] GO:0044325[transmembrane transporter binding] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0051924[regulation of calcium ion transport] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0070062[extracellular exosome] GO:0086004[regulation of cardiac muscle cell contraction] GO:1901077[regulation of relaxation of muscle] GO:1901841[regulation of high voltage-gated calcium channel activity] GO:1901844[regulation of cell communication by electrical coupling involved in cardiac conduction]
The Human Protein Atlas project is funded
