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Aliases for PLN Gene

Aliases for PLN Gene

  • Phospholamban 2 3 5
  • PLB 3 4
  • Cardiac Phospholamban 3
  • 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, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]

GeneCards Summary for PLN Gene

PLN (Phospholamban) is a Protein Coding gene. Diseases associated with PLN include Cardiomyopathy, Dilated, 1P and Cardiomyopathy, Familial Hypertrophic, 18. Among its related pathways are ADP signalling through P2Y purinoceptor 12 and DAG and IP3 signaling. Gene Ontology (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

Additional gene information for PLN Gene

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

Genomics for PLN Gene

GeneHancer (GH) Regulatory Elements for PLN Gene

Promoters and enhancers for PLN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J118548 Promoter/Enhancer 1 EPDnew dbSUPER 650.7 0.0 0 0.1 PKNOX1 ZNF316 MAFG EMSY MAFK PLN BRD7P3 CEP85L
GH06J118536 Enhancer 1.5 VISTA FANTOM5 dbSUPER 39.1 -11.0 -10951 2.6 HDAC1 PKNOX1 ATF1 CHAMP1 NCOA2 TCF12 ZNF766 ATF7 CREM GATAD2B PLN SSXP10 BRD7P3 CEP85L
GH06J118292 Enhancer 0.5 dbSUPER 11.1 -253.5 -253455 5.6 SP1 CREB1 HNF4A ATF2 PLN SSXP10 SLC35F1 PIR48915 GC06M118401 LOC105377967
GH06J118315 Enhancer 0.7 dbSUPER 7.6 -229.2 -229165 7.4 MEIS2 CTCF PKNOX1 NFIB TAL1 JUNB CBFA2T3 FEZF1 ZNF843 SP1 SLC35F1 PLN SSXP10 PIR48915 GC06M118401 LOC105377967
GH06J118510 Enhancer 0.3 dbSUPER 12.1 -35.9 -35912 2.8 ZNF133 SSXP10 PLN CEP85L BRD7P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLN gene promoter:
  • AP-1
  • MEF-2A
  • aMEF-2
  • CREB
  • deltaCREB
  • ATF-2
  • c-Jun

Genomic Locations for PLN Gene

Genomic Locations for PLN Gene
chr6:118,548,279-118,560,730
(GRCh38/hg38)
Size:
12,452 bases
Orientation:
Plus strand
chr6:118,869,442-118,881,893
(GRCh37/hg19)
Size:
12,452 bases
Orientation:
Plus strand

Genomic View for PLN Gene

Genes around PLN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:16043693, PubMed:16897780). Interacts with HAX1 and ATP2A2 (PubMed:17241641).
    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

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.
  • Palmitoylated by ZDHHC16, promoting formation of the homopentamer.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLN Gene

Domains & Families for PLN Gene

Gene Families for PLN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for PLN Gene

Blocks:
InterPro:
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

Function for PLN Gene

Molecular function for PLN Gene

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.
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)

Phenotypes From GWAS Catalog for PLN Gene

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

Human Phenotype Ontology for PLN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

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

Localization for PLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLN Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Sarcoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein. Membrane; Single-pass membrane protein. Note=Colocalizes with HAX1 at the endoplasmic reticulum (PubMed:17241641). Colocalizes with DMPK a the sarcoplasmic reticulum (PubMed:15598648). {ECO:0000269 PubMed:15598648, ECO:0000269 PubMed:17241641}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLN gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
nucleus 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for PLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,HDA 20833797
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 19708671
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PLN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLN Gene

Pathways & Interactions for PLN Gene

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

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 IEA --
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: HMDB and Novoseek

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for PLN Gene



Protein tissue co-expression partners for PLN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLN Gene:

PLN

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).

Evidence on tissue expression from TISSUES for PLN Gene

  • Heart(4.7)
  • Muscle(4.3)
  • Liver(4)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with PLN: view

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 34 33
  • 99.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pln 34
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLN 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLN 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLN 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLN 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLN 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLN 34
  • 85 (a)
OneToOne
Species where no ortholog for PLN was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PLN: view image

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 Variation AA Info Type
rs1004405095 uncertain-significance, Dilated cardiomyopathy 1P 118,558,995(+) G/A coding_sequence_variant, missense_variant
rs1044070947 uncertain-significance, Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 118,560,305(+) C/T 3_prime_UTR_variant
rs1060502977 uncertain-significance, Dilated cardiomyopathy 1P 118,558,943(+) A/C coding_sequence_variant, missense_variant
rs111033559 pathogenic, Dilated cardiomyopathy 1P, not provided, Primary dilated cardiomyopathy, Cardiomyopathy, dilated 1P (CMD1P) [MIM:609909] 118,558,946(+) C/T coding_sequence_variant, missense_variant
rs111033560 pathogenic, likely-pathogenic, Dilated cardiomyopathy 1P, Familial hypertrophic cardiomyopathy 18, Primary familial hypertrophic cardiomyopathy, Sudden cardiac death, Cardiac arrest, Dilated cardiomyopathy, not provided 118,559,037(+) T/G coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv525179 CNV gain 19592680
nsv1161446 CNV duplication 26073780
nsv1034448 CNV gain 25217958
nsv1030331 CNV gain 25217958
nsv1020586 CNV gain 25217958
nsv1020463 CNV gain 25217958
esv3890931 CNV gain 25118596
esv3610517 CNV gain 21293372
esv3610516 CNV loss 21293372
esv3435797 CNV insertion 20981092
esv275552 CNV loss 21479260
dgv1826e212 CNV gain 25503493
dgv10918n54 CNV gain 21841781

Variation tolerance for PLN Gene

Residual Variation Intolerance Score: 55.3% 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)

Additional Variant Information for PLN Gene

Human Gene Mutation Database (HGMD)
PLN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLN

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLN Gene

MalaCards: The human disease database

(11) MalaCards diseases for PLN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1p
  • cmd1p
cardiomyopathy, familial hypertrophic, 18
  • cmh18
cardiac arrest
  • cardiopulmonary arrest
cardiac conduction defect
  • cardiac conduction defect, susceptibility to
arrhythmogenic right ventricular dysplasia, familial, 9
  • arvd9
- elite association - COSMIC cancer census association via MalaCards
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, ECO:0000269 PubMed:22427649, ECO:0000269 PubMed:22707725}. 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.

Additional Disease Information for PLN

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

No data available for Genatlas for PLN Gene

Publications for PLN Gene

  1. [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]. (PMID: 16235537) Chen XY … Wang B (Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2005) 3 22 44 58
  2. Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population. (PMID: 16382369) Kalemi T … Louridas G (Biochemical genetics 2005) 3 22 44 58
  3. [Association between mutation of phospholamban gene and dilated cardiomyopathy]. (PMID: 15640069) Zhao CX … Wang DW (Yi chuan = Hereditas 2004) 3 22 44 58
  4. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. (PMID: 12705874) Minamisawa S … Matsuoka R (Biochemical and biophysical research communications 2003) 3 4 44 58
  5. Structure of the rabbit phospholamban gene, cloning of the human cDNA, and assignment of the gene to human chromosome 6. (PMID: 1828805) Fujii J … MacLennan DH (The Journal of biological chemistry 1991) 2 3 4 58

Products for PLN Gene

Sources for PLN Gene

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