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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PLN Gene

protein-coding   GIFtS: 63
GCID: GC06P118869

phospholamban


(Previous symbol: PLB)
 Explore 9 diseases affiliated with
PLN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PLN    

Aliases
for PLN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phospholamban1
PLB1 2 3 5
CMD1P1 2 5
CMH182
Cardiac Phospholamban2

External Ids:    HGNC: 90801   Entrez Gene: 53502   Ensembl: ENSG000001985237   OMIM: 1724055   UniProtKB: P266783   

Export aliases for PLN gene to outside databases

Previous GC identifers: GC06P118715 GC06P118892 GC06P118915 GC06P118976 GC06P116451


Summaries
for PLN gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PLN:
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)

UniProtKB/Swiss-Prot: PPLA_HUMAN, P26678
Function: Phospholamban has been postulated to regulate the activity of the calcium pump of cardiac sarcoplasmic
reticulum

Gene Wiki entry for PLN (Phospholamban)


Genomic Views
for PLN gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLN gene promoter:
         CREB   MEF-2A   AP-1   ATF-2   deltaCREB   c-Jun   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PLN promoter sequence
   Search SABiosciences Chromatin IP Primers for PLN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22.1   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q22.1

PLN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLN gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P118869:  view genomic region     (about GC identifiers)

Start:
 118,869,442 bp from pter      End:
 118,881,893 bp from pter
Size:
 12,452 bases      Orientation:
 plus strand

Proteins
for PLN gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PPLA_HUMAN, P26678 (See protein sequence)
Recommended Name: Cardiac phospholamban  
Size: 52 amino acids; 6109 Da
Subunit: Homopentamer. Interacts with HAX1
Subcellular location: Mitochondrion membrane; Single-pass membrane protein. Sarcoplasmic reticulum (By similarity)
6/7 PDB 3D structures from and Proteopedia for PLN (see all 7):
1K9N (3D)        1KCH (3D)        1PLN (3D)        1PLP (3D)        1PSL (3D)        1ZLL (3D)    

Explore the universe of human proteins at neXtProt for PLN: NX_P26678

Post-translational modifications:

  • Phosphorylated at Thr-17 by CaMK2, and in response to beta-adrenergic stimulation. Phosphorylation by DMPK may
    • stimulate sarcoplasmic reticulum calcium uptake in cardiomyocytes1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P26678

    • PLN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002658.1  
    ENSEMBL proteins: 
     ENSP00000350132  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: PLN
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    Novus Biologicals PLN Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PLN

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0016020membrane IDA19708671
    GO:0016021integral to membrane IEA--
    GO:0016529sarcoplasmic reticulum IEA--
    GO:0031966mitochondrial membrane IEA--


    PLN for ontologies           About GeneDecksing



    PLN Antibody Products: 
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    Abcam antibodies for PLN 
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    ThermoFisher Antibody for PLN

    Assay Products for PLN: 
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    Uscn ELISAs and CLIAs for PLN

    Protein Domains /
    Families
    for PLN gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PLN for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005984 P_lamban

    Graphical View of Domain Structure for InterPro Entry P26678

    ProtoNet protein and cluster: P26678

    1 Blocks protein family: IPB005984 Phospholamban

    UniProtKB/Swiss-Prot: PPLA_HUMAN, P26678
    Similarity: Belongs to the phospholamban family


    Function
    for PLN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PPLA_HUMAN, P26678
    Function: Phospholamban has been postulated to regulate the activity of the calcium pump of cardiac sarcoplasmic
    reticulum

         Genatlas biochemistry entry for PLN:
    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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLN
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate PLN (see all 9):
    hsa-miR-433 hsa-miR-579 hsa-miR-3616-5p hsa-miR-3647-5p hsa-miR-3122 hsa-miR-3913-5p hsa-miR-573 hsa-miR-3915
    SwitchGear 3'UTR luciferase reporter plasmid: PLN 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLN (see all 7)
    OriGene shRNA RFP: PLN
    OriGene siRNA: PLN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLN

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PLN

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLN (see all 4)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLN 

    Cell Line
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    Search LifeMap BioReagents cell lines for PLN

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLN

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004857enzyme inhibitor activity ISS12032137
    GO:0005246calcium channel regulator activity IEA--
    GO:0005515protein binding IPI15598648
    GO:0042030ATPase inhibitor activity ISS--
    GO:0042802identical protein binding ISS--


    PLN for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Plntm1Egk for PLN
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pln):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    PLN for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PLN gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		Activation of PKA through GPCR0.71
    		cAMP Pathway0.77
    		PKA Signaling0.56
    2Signal transduction Calcium signaling
    		Signal transduction Calcium signaling1.00
    		Signal transduction_Calcium signaling0.97
    3Integrated Pancreatic Cancer Pathway
    		Integrated Pancreatic Cancer Pathway1.00
    		Integrated Pancreatic Cancer Pathway0.99
    4G Protein Signaling Pathways
    		Signal transduction cAMP signaling0.44
    		Signal transduction_cAMP signaling0.44
    5PKA activation in glucagon signalling
    		Development Beta-adrenergic receptors signaling via cAMP0.29
    		Development_Beta-adrenergic receptors signaling via cAMP0.29

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for PLN
        Signal transduction Calcium signaling
    Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PLN
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA
    Beta-Adrenergic Signaling

    2 Cell Signaling Technology (CST) Pathways for PLN
        Ca, cAMP and Lipid Signaling
    Angiogenesis

    3 GeneGo (Thomson Reuters) Pathways for PLN
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling
    Signal transduction Calcium signaling

    3 BioSystems Pathways for PLN 
        Calcium Regulation in the Cardiac Cell
    Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    1 PharmGKB Pathway for PLN
        Antiarrhythmic Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for PLN):
        Calcium signaling pathway
    Dilated cardiomyopathy


    PLN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/14 Interacting proteins for PLN (P266781, 3 ENSP000003501324) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DMPKQ090131, 3, ENSP000003459974EBI-692836,EBI-692774 I2D: score=2 STRING: ENSP00000345997
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    S100A1P232973, ENSP000002921694I2D: score=1 STRING: ENSP00000292169
    ATP2A1O149833, ENSP000003495954I2D: score=2 STRING: ENSP00000349595
    SLNO006313, ENSP000003047074I2D: score=2 STRING: ENSP00000304707
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002026regulation of the force of heart contraction IC19708671
    GO:0006816calcium ion transport IEA--
    GO:0006874cellular calcium ion homeostasis ----
    GO:0008015blood circulation NAS8406504
    GO:0008016regulation of heart contraction IMP16432188


    PLN for ontologies           About GeneDecksing



    Drugs & Compounds
    for PLN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PLN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PLN

    1 HMDB Compound for PLN    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    2 Novoseek chemical compound relationships for PLN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 36 16 15049694 (6), 8406504 (1), 15640069 (1), 15358683 (1) (see all 6)
    lipid 0 5 9062126 (4)

    Search CenterWatch for drugs/clinical trials and news about PLN / PPLA 

    Transcripts
    for PLN gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PLN gene: 
    NM_002667.3  

    Unigene Cluster for PLN:

    Phospholamban
    Hs.170839  [show with all ESTs]
    Unigene Representative Sequence: NM_002667
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000357525(uc003pye.3)

    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate PLN (see all 9):
    hsa-miR-433 hsa-miR-579 hsa-miR-3616-5p hsa-miR-3647-5p hsa-miR-3122 hsa-miR-3913-5p hsa-miR-573 hsa-miR-3915
    SwitchGear 3'UTR luciferase reporter plasmid: PLN 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLN (see all 7)
    OriGene shRNA RFP: PLN
    OriGene siRNA: PLN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLN
    Clone
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    Primer
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    Additional cDNA sequence: 

    AK311799.1 BC005269.1 M60411.1 M63603.1 

    7 DOTS entries:

    DT.450591  DT.100792140  DT.121381779  DT.102828292  DT.100792141  DT.95268199  DT.121381742 

    24/341 AceView cDNA sequences (see all 341):

    CB963226 AL601171 BE221753 AA399005 AL601344 AA045336 AL601164 AL600027 
    BI819558 AA045423 AL599452 AL600034 AA909648 AI684716 AI969945 T29219 
    M60411 BE044545 M63603 AK129844 BI766216 AI093243 AJ709272 AI355307 

    GeneLoc Exon Structure


    Expression
    for PLN gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PLN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGGTTAGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PLN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    Beating cell clusters (Spontaneous differen...)

    See PLN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLN

    SOURCE GeneReport for Unigene cluster: Hs.170839

    UniProtKB/Swiss-Prot: PPLA_HUMAN, P26678
    Tissue specificity: Heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including PLN: 
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              Cardiotoxicity in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLN

    Orthologs
    for PLN gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for PLN gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pln1 , 5 phospholamban1, 5 87.82(n)1
    98.08(a)1    		   10 (27.11 cM)5
    188211  NM_001141927.11  NP_001135399.11 
     533376865 
    chicken
    (Gallus gallus)    		 Aves PLN6
    		 phospholamban
    		 85(a)
    		 1 ↔ 1
    		 3(65581334-65581492)
    lizard
    (Anolis carolinensis)    		 Reptilia PLN6
    		 --
    		 85(a)
    		 1 ↔ 1
    		 1(184997977-184998132)


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

    Paralogs
    for PLN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for PLN gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/243 NCBI SNPs in PLN are shown (see all 243)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1110335601,2
    		Cpathogenic193783924(+) CATCTT/GAATAT 3 -- int11Minor allele frequency- G:0.00EU 1323
    rs746429511,2
    		--116449311(+) GTGTAA/TCTGGT 3 -- int10--------
    rs784235191,2
    		--116449828(+) CTTTGG/AAAGAA 3 -- int11Minor allele frequency- A:0.01NA 120
    rs576222871,2
    		C,F,--116449960(+) AAGTAC/TCTCCT 3 -- int13Minor allele frequency- T:0.13WA CSA 122
    rs170803121,2
    		C--116450617(+) TCCCAT/CACACA 3 -- int14Minor allele frequency- C:0.01NA 144
    rs771861881,2
    		F,--116451087(+) CCTAGA/CACACT 3 -- int11Minor allele frequency- C:0.06NA 120
    rs94894341,2
    		C,F,H,--116451167(+) CACCCG/ATAAGA 3 -- int1 ese310Minor allele frequency- A:0.04NS EA CSA WA 1309
    rs94894351,2
    		F,A,H,--116451535(+) TCCAAT/CTATGT 3 -- int16Minor allele frequency- C:0.03NS EA CSA WA 539
    rs754254891,2
    		--116452563(+) ATATCT/CATCAA 3 -- int11Minor allele frequency- C:0.01WA 118
    rs779809461,2
    		--116452601(+) GTTCAC/TGAGTT 3 -- int11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for PLN (118869442 - 118881893 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PLN: --
    Human Gene Mutation Database (HGMD): PLN

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLN
    DNA2.0 Custom Variant and Variant Library Synthesis for PLN

    Disorders / Diseases
    for PLN gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PLN for disorders           About GeneDecksing

    OMIM gene information: 172405   
    OMIM disorders: 609909  
    UniProtKB/Swiss-Prot: PPLA_HUMAN, P26678
  • Defects in PLN are the cause of cardiomyopathy dilated type 1P (CMD1P) [MIM:609909]. Dilated cardiomyopathy is
    • a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure
    and arrhythmia. Patients are at risk of premature death
  • Defects in PLN are the cause of familial hypertrophic cardiomyopathy type 18 (CMH18) [MIM:613874]. CMH18 is 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

    9 diseases for PLN:    About MalaCards
    congestive heart failure    dilated cardiomyopathy    cardiomyopathy    hypertrophic cardiomyopathy
    familial hypertrophic cardiomyopathy    congenital heart defect    myotonic dystrophy    achalasia
    septic shock

    3 diseases from the University of Copenhagen DISEASES database for PLN:
    Heart disease     Vascular disease     Familial hypertrophic cardiomyopathy

    4 Novoseek disease relationships for PLN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dilated cardiomyopathy 60.9 6 12639993 (1), 14507721 (1), 15640069 (1), 16235537 (1) (see all 5)
    heart failure 54.3 5 9790566 (1), 12639993 (1), 14507721 (1), 15582584 (1)
    hypertrophy 27 1 17517351 (1)
    cardiomyopathy 22.8 2 16382369 (1), 16829191 (1)

    GeneTests: PLN
    Dilated Cardiomyopathy

    Genetic Association Database (GAD): PLN
    Human Genome Epidemiology (HuGE) Navigator: PLN (18 documents)

    Export disorders for PLN gene to outside databases

    Publications
    for PLN gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PLN gene, integrated from 9 sources (see all 95):
    (articles sorted by number of sources associating them with PLN)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. (PubMed id 12705874)1, 2, 4 Minamisawa S....Matsuoka R. (2003)
    2. Structure of the rabbit phospholamban gene, cloning of the human cDNA, and assignment of the gene to human chromosome 6. (PubMed id 1828805)1, 2, 3 Fujii J.... Maclennan D.H. (1991)
    3. [Association between mutation of phospholamban gene and dilated cardiomyopathy.] (PubMed id 15640069)1, 4, 9 Zhao C.X....Wang D.W. (2004)
    4. [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area] (PubMed id 16235537)1, 4, 9 Chen X.Y....Wang B. (2005)
    5. Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population. (PubMed id 16382369)1, 4, 9 Kalemi T....Louridas G. (2005)
    6. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. (PubMed id 16432188)1, 2 Haghighi K.... Kranias E.G. (2006)
    7. Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum. (PubMed id 15598648)1, 2 Kaliman P.... Ruiz-Lozano P. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. (PubMed id 12610310)1, 2 Schmitt J.P.... Seidman C.E. (2003)
    10. The human phospholamban gene: structure and expression. (PubMed id 10198197)1, 2 McTiernan C.F.... Feldman A.M. (1999)

    External Searches for PLN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PLN gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5350 HGNC: 9080 AceView: PLN Ensembl:ENSG00000198523 euGenes: HUgn5350
    ECgene: PLN Kegg: 5350 H-InvDB: PLN

    Other Databases showing PLN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PLN gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLN

    Intellectual Property
    for PLN gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PLN gene:
    Search GeneIP for patents involving PLN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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