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Aliases for PLN Gene

Aliases for PLN Gene

  • Phospholamban 2 3
  • PLB 3 4
  • CMD1P 3
  • CMH18 3

External Ids for PLN Gene

Previous HGNC Symbols for PLN Gene

  • PLB

Previous GeneCards Identifiers for PLN Gene

  • GC06P118715
  • GC06P118892
  • GC06P118915
  • GC06P118976
  • GC06P118869
  • GC06P116451

Summaries for PLN Gene

Entrez Gene Summary for PLN Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for PLN Gene

PLN (Phospholamban) is a Protein Coding gene. Diseases associated with PLN include pln-related dilated cardiomyopathy and pln-related familial hypertrophic cardiomyopathy. Among its related pathways are Activation of cAMP-Dependent PKA and Angiogenesis (CST). GO annotations related to this gene include identical protein binding and enzyme inhibitor activity.

UniProtKB/Swiss-Prot for PLN Gene

  • Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). 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.

Gene Wiki entry for PLN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLN Gene

Genomics for PLN Gene

Regulatory Elements for PLN Gene

Genomic Location for PLN Gene

Chromosome:
6
Start:
118,548,279 bp from pter
End:
118,560,730 bp from pter
Size:
12,452 bases
Orientation:
Plus strand

Genomic View for PLN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLN Gene

Proteins for PLN Gene

  • Protein details for PLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26678-PPLA_HUMAN
    Recommended name:
    Cardiac phospholamban
    Protein Accession:
    P26678

    Protein attributes for PLN Gene

    Size:
    52 amino acids
    Molecular mass:
    6109 Da
    Quaternary structure:
    • Homopentamer. Interacts with HAX1 and ATP2A2.
    Miscellaneous:
    • For practical reasons, PLN activity is most often studied with ATP2A1 instead of ATP2A2

    Three dimensional structures from OCA and Proteopedia for PLN Gene

neXtProt entry for PLN Gene

Proteomics data for PLN Gene at MOPED

Post-translational modifications for PLN Gene

  • Phosphorylation by PKA abolishes the inhibition of ATP2A2-mediated calcium uptake. Phosphorylated at Thr-17 by CaMK2, and in response to beta-adrenergic stimulation. Phosphorylation by DMPK may stimulate sarcoplasmic reticulum calcium uptake in cardiomyocytes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PLN (PLB)

No data available for DME Specific Peptides for PLN Gene

Domains & Families for PLN Gene

Protein Domains for PLN Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLN Gene

Graphical View of Domain Structure for InterPro Entry

P26678

UniProtKB/Swiss-Prot:

PPLA_HUMAN :
  • Belongs to the phospholamban family.
Family:
  • Belongs to the phospholamban family.
genes like me logo Genes that share domains with PLN: view

No data available for Gene Families for PLN Gene

Function for PLN Gene

Molecular function for PLN Gene

GENATLAS Biochemistry:
phospholamban,6.1kDa,mainly expressed in cardiac muscle,also expressed in smooth muscle,phosphoregulated by cAMP-dependent and other protein kinases,regulating the activity of the sarcoplasmic Ca++ ATPase (ATP2A2) isoform a,regulator of the kinetics of cardiac contraction (diastolic function)
UniProtKB/Swiss-Prot Function:
Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). 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.

Gene Ontology (GO) - Molecular Function for PLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity ISS 12032137
GO:0005246 calcium channel regulator activity IEA --
GO:0005515 protein binding IPI 15598648
GO:0042030 ATPase inhibitor activity ISS --
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with PLN: view
genes like me logo Genes that share phenotypes with PLN: view

Animal Models for PLN Gene

MGI Knock Outs for PLN:

miRNA for PLN Gene

miRTarBase miRNAs that target PLN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLN Gene

Localization for PLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLN Gene

Sarcoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLN Gene COMPARTMENTS Subcellular localization image for PLN gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
cytosol 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005783 endoplasmic reticulum ISS --
GO:0005829 cytosol IC 19708671
GO:0016020 membrane IDA 19708671
GO:0016529 sarcoplasmic reticulum --
genes like me logo Genes that share ontologies with PLN: view

Pathways & Interactions for PLN Gene

genes like me logo Genes that share pathways with PLN: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cardiotoxicity in human,mouse,rat
    • cAMP / Ca2+ Signaling PathwayFinder in human,mouse,rat

SIGNOR curated interactions for PLN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IC 19708671
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis --
GO:0007219 Notch signaling pathway IEA --
GO:0008015 blood circulation NAS 8406504
genes like me logo Genes that share ontologies with PLN: view

Drugs & Compounds for PLN Gene

(1) Drugs for PLN Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0

(1) Additional Compounds for PLN Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LIPID
genes like me logo Genes that share compounds with PLN: view

Transcripts for PLN Gene

mRNA/cDNA for PLN Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(341) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PLN Gene

Phospholamban:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLN Gene

No ASD Table

Relevant External Links for PLN Gene

GeneLoc Exon Structure for
PLN
ECgene alternative splicing isoforms for
PLN

Expression for PLN Gene

mRNA expression in normal human tissues for PLN Gene

mRNA differential expression in normal tissues according to GTEx for PLN Gene

This gene is overexpressed in Heart - Left Ventricle (x17.5), Heart - Atrial Appendage (x7.3), Artery - Tibial (x5.2), and Artery - Aorta (x4.1).

Protein differential expression in normal tissues from HIPED for PLN Gene

This gene is overexpressed in Fetal heart (37.6) and Heart (23.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLN Gene



SOURCE GeneReport for Unigene cluster for PLN Gene Hs.170839

mRNA Expression by UniProt/SwissProt for PLN Gene

P26678-PPLA_HUMAN
Tissue specificity: Heart muscle (at protein level).
genes like me logo Genes that share expression patterns with PLN: view

Protein tissue co-expression partners for PLN Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for PLN Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLN 35
  • 99.36 (n)
  • 98.08 (a)
PLN 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pln 16
Pln 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLN 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLN 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLN 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLN 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLN 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLN 36
  • 85 (a)
OneToOne
Species with no ortholog for PLN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PLN Gene

ENSEMBL:
Gene Tree for PLN (if available)
TreeFam:
Gene Tree for PLN (if available)

Paralogs for PLN Gene

No data available for Paralogs for PLN Gene

Variants for PLN Gene

Sequence variations from dbSNP and Humsavar for PLN Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
VAR_025989 Cardiomyopathy, dilated 1P (CMD1P)
VAR_072925 Cardiomyopathy, dilated 1P (CMD1P)
VAR_072926 Cardiomyopathy, dilated 1P (CMD1P)

Structural Variations from Database of Genomic Variants (DGV) for PLN Gene

Variant ID Type Subtype PubMed ID
nsv525179 CNV Gain 19592680
esv274179 CNV Insertion 20981092
esv275552 CNV Loss 21479260

Variation tolerance for PLN Gene

Residual Variation Intolerance Score: 55.27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLN Gene

HapMap Linkage Disequilibrium report
PLN
Human Gene Mutation Database (HGMD)
PLN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLN Gene

Disorders for PLN Gene

MalaCards: The human disease database

(9) MalaCards diseases for PLN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
pln-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1p
pln-related familial hypertrophic cardiomyopathy
cardiomyopathy, dilated, 1p
  • cmd1p
cardiomyopathy, hypertrophic, 18
  • cardiomyopathy, familial hypertrophic, 18
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
- elite association
Search PLN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPLA_HUMAN
  • Cardiomyopathy, dilated 1P (CMD1P) [MIM:609909]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:12610310, ECO:0000269 PubMed:16432188, ECO:0000269 PubMed:22137083}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 18 (CMH18) [MIM:613874]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:12705874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PLN

Genetic Association Database (GAD)
PLN
Human Genome Epidemiology (HuGE) Navigator
PLN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLN
genes like me logo Genes that share disorders with PLN: view

No data available for Genatlas for PLN Gene

Publications for PLN Gene

  1. Effect of proinflammatory cytokines on regulation of sarcoplasmic reticulum Ca2+ reuptake in human airway smooth muscle. (PMID: 19395670) Sathish V. … Sieck G.C. (Am. J. Physiol. Lung Cell Mol. Physiol. 2009) 23 67
  2. Force frequency relationship of the human ventricle increases during early postnatal development. (PMID: 19127223) Wiegerinck R.F. … Wagner M.B. (Pediatr. Res. 2009) 23 67
  3. Phospholamban overexpression in transgenic rabbits. (PMID: 17882530) Pattison J.S. … Robbins J. (Transgenic Res. 2008) 23 67
  4. Effect of cardiac resynchronization therapy on myocardial gene expression in patients with nonischemic dilated cardiomyopathy. (PMID: 17517351) Iyengar S. … Abraham W.T. (J. Card. Fail. 2007) 23 67
  5. Down-regulation of FKBP12.6 and SERCA2a contributes to acute heart failure in septic shock and is related to an up-regulated endothelin signalling pathway. (PMID: 17637193) He H.B. … Dai Y. (J. Pharm. Pharmacol. 2007) 23 67

Products for PLN Gene

Sources for PLN Gene

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