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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 Human disease related genes Potential drug targets 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
6
Cytoband
q22.31
Chromosome location (bp)
118548296 - 118561716
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) 1. Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation. Controls intracellular Ca(2+) levels in elongated spermatids. May play a role in germ cell differentiation (By similarity)....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 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 Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets 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:0001675[acrosome assembly] GO:0002026[regulation of the force of heart contraction] GO:0004857[enzyme inhibitor activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0006874[cellular calcium ion homeostasis] GO:0007219[Notch signaling pathway] GO:0008015[blood circulation] GO:0008016[regulation of heart contraction] GO:0010459[negative regulation of heart rate] GO:0010880[regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881[regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0031966[mitochondrial membrane] GO:0032780[negative regulation of ATP-dependent activity] GO:0033017[sarcoplasmic reticulum membrane] GO:0042030[ATPase inhibitor activity] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043086[negative regulation of catalytic activity] GO:0045822[negative regulation of heart contraction] GO:0046716[muscle cell cellular homeostasis] GO:0048471[perinuclear region of cytoplasm] GO:0048738[cardiac muscle tissue development] GO:0051117[ATPase binding] GO:0051480[regulation of cytosolic calcium ion concentration] GO:0051924[regulation of calcium ion transport] GO:0051926[negative regulation of calcium ion transport] GO:0055119[relaxation of cardiac muscle] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0086004[regulation of cardiac muscle cell contraction] GO:0086023[adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process] GO:0086036[regulation of cardiac muscle cell membrane potential] GO:0086092[regulation of the force of heart contraction by cardiac conduction] GO:0090279[regulation of calcium ion import] GO:0090281[negative regulation of calcium ion import] GO:0090534[calcium ion-transporting ATPase complex] GO:1901020[negative regulation of calcium ion transmembrane transporter activity] GO:1901077[regulation of relaxation of muscle] GO:1901877[negative regulation of calcium ion binding] GO:1901894[regulation of ATPase-coupled calcium transmembrane transporter activity] GO:1901895[negative regulation of ATPase-coupled calcium transmembrane transporter activity] GO:1901897[regulation of relaxation of cardiac muscle] GO:1902081[negative regulation of calcium ion import into sarcoplasmic reticulum]
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