Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PLN (phospholamban)

Identity

Alias_namesPLB
Alias_symbol (synonym)CMD1P
Other aliasCMH18
HGNC (Hugo) PLN
LocusID (NCBI) 5350
Atlas_Id 56033
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 118548263 and ends at 118561715 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PREP (6q21) / PLN (6q22.31)PTPRK (6q22.33) / PLN (6q22.31)SDHB (1p36.13) / PLN (6q22.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;6)(p36;q22) SDHB/PLN
t(6;6)(q21;q22) PREP/PLN
PTPRK/PLN (6q22)


External links

Nomenclature
HGNC (Hugo)PLN   9080
LRG (Locus Reference Genomic)LRG_390
Cards
Entrez_Gene (NCBI)PLN  5350  phospholamban
AliasesCMD1P; CMH18; PLB
GeneCards (Weizmann)PLN
Ensembl hg19 (Hinxton)ENSG00000198523 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198523 [Gene_View]  ENSG00000198523 [Sequence]  chr6:118548263-118561715 [Contig_View]  PLN [Vega]
ICGC DataPortalENSG00000198523
TCGA cBioPortalPLN
AceView (NCBI)PLN
Genatlas (Paris)PLN
WikiGenes5350
SOURCE (Princeton)PLN
Genetics Home Reference (NIH)PLN
Genomic and cartography
GoldenPath hg38 (UCSC)PLN  -     chr6:118548263-118561715 +  6q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLN  -     6q22.31   [Description]    (hg19-Feb_2009)
EnsemblPLN - 6q22.31 [CytoView hg19]  PLN - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBIPLN [Mapview hg19]  PLN [Mapview hg38]
OMIM172405   609909   613874   
Gene and transcription
Genbank (Entrez)AK129844 AK311799 BC005269 BP257094 BP259965
RefSeq transcript (Entrez)NM_002667
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLN
Cluster EST : UnigeneHs.745010 [ NCBI ]
CGAP (NCI)Hs.745010
Alternative Splicing GalleryENSG00000198523
Gene ExpressionPLN [ NCBI-GEO ]   PLN [ EBI - ARRAY_EXPRESS ]   PLN [ SEEK ]   PLN [ MEM ]
Gene Expression Viewer (FireBrowse)PLN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5350
GTEX Portal (Tissue expression)PLN
Human Protein AtlasENSG00000198523-PLN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26678   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP26678  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26678
Splice isoforms : SwissVarP26678
PhosPhoSitePlusP26678
Domains : Interpro (EBI)PLB   
Domain families : Pfam (Sanger)Phospholamban (PF04272)   
Domain families : Pfam (NCBI)pfam04272   
Domain structure : Prodom (Prabi Lyon)P_lamban (PD014689)   
Conserved Domain (NCBI)PLN
DMDM Disease mutations5350
Blocks (Seattle)PLN
PDB (SRS)1K9N    1KCH    1PLN    1PLP    1PSL    1ZLL    2HYN   
PDB (PDBSum)1K9N    1KCH    1PLN    1PLP    1PSL    1ZLL    2HYN   
PDB (IMB)1K9N    1KCH    1PLN    1PLP    1PSL    1ZLL    2HYN   
PDB (RSDB)1K9N    1KCH    1PLN    1PLP    1PSL    1ZLL    2HYN   
Structural Biology KnowledgeBase1K9N    1KCH    1PLN    1PLP    1PSL    1ZLL    2HYN   
SCOP (Structural Classification of Proteins)1K9N    1KCH    1PLN    1PLP    1PSL    1ZLL    2HYN   
CATH (Classification of proteins structures)1K9N    1KCH    1PLN    1PLP    1PSL    1ZLL    2HYN   
SuperfamilyP26678
Human Protein Atlas [tissue]ENSG00000198523-PLN [tissue]
Peptide AtlasP26678
HPRD01395
IPIIPI00000935   
Protein Interaction databases
DIP (DOE-UCLA)P26678
IntAct (EBI)P26678
FunCoupENSG00000198523
BioGRIDPLN
STRING (EMBL)PLN
ZODIACPLN
Ontologies - Pathways
QuickGOP26678
Ontology : AmiGOregulation of the force of heart contraction  enzyme inhibitor activity  calcium channel regulator activity  protein binding  mitochondrion  endoplasmic reticulum  calcium ion transport  Notch signaling pathway  blood circulation  regulation of heart contraction  response to zinc ion  negative regulation of heart rate  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  membrane  mitochondrial membrane  vesicle  negative regulation of ATPase activity  negative regulation of ATPase activity  response to insulin  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  response to testosterone  ATPase inhibitor activity  ATPase inhibitor activity  identical protein binding  negative regulation of catalytic activity  perinuclear region of cytoplasm  cardiac muscle tissue development  ATPase binding  protein homooligomerization  regulation of cytosolic calcium ion concentration  regulation of calcium ion transport  regulation of calcium ion transport  negative regulation of calcium ion transport  relaxation of cardiac muscle  regulation of ryanodine-sensitive calcium-release channel activity  regulation of cardiac muscle cell contraction  adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process  regulation of cardiac muscle cell membrane potential  regulation of the force of heart contraction by cardiac conduction  negative regulation of calcium ion import  calcium ion-transporting ATPase complex  negative regulation of calcium ion transmembrane transporter activity  negative regulation of calcium ion transmembrane transporter activity  negative regulation of calcium ion binding  negative regulation of calcium ion binding  regulation of calcium-transporting ATPase activity  negative regulation of calcium-transporting ATPase activity  regulation of relaxation of cardiac muscle  negative regulation of calcium ion import into sarcoplasmic reticulum  
Ontology : EGO-EBIregulation of the force of heart contraction  enzyme inhibitor activity  calcium channel regulator activity  protein binding  mitochondrion  endoplasmic reticulum  calcium ion transport  Notch signaling pathway  blood circulation  regulation of heart contraction  response to zinc ion  negative regulation of heart rate  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  membrane  mitochondrial membrane  vesicle  negative regulation of ATPase activity  negative regulation of ATPase activity  response to insulin  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  response to testosterone  ATPase inhibitor activity  ATPase inhibitor activity  identical protein binding  negative regulation of catalytic activity  perinuclear region of cytoplasm  cardiac muscle tissue development  ATPase binding  protein homooligomerization  regulation of cytosolic calcium ion concentration  regulation of calcium ion transport  regulation of calcium ion transport  negative regulation of calcium ion transport  relaxation of cardiac muscle  regulation of ryanodine-sensitive calcium-release channel activity  regulation of cardiac muscle cell contraction  adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process  regulation of cardiac muscle cell membrane potential  regulation of the force of heart contraction by cardiac conduction  negative regulation of calcium ion import  calcium ion-transporting ATPase complex  negative regulation of calcium ion transmembrane transporter activity  negative regulation of calcium ion transmembrane transporter activity  negative regulation of calcium ion binding  negative regulation of calcium ion binding  regulation of calcium-transporting ATPase activity  negative regulation of calcium-transporting ATPase activity  regulation of relaxation of cardiac muscle  negative regulation of calcium ion import into sarcoplasmic reticulum  
Pathways : KEGGCalcium signaling pathway    Adrenergic signaling in cardiomyocytes    Thyroid hormone signaling pathway    Dilated cardiomyopathy   
NDEx NetworkPLN
Atlas of Cancer Signalling NetworkPLN
Wikipedia pathwaysPLN
Orthology - Evolution
OrthoDB5350
GeneTree (enSembl)ENSG00000198523
Phylogenetic Trees/Animal Genes : TreeFamPLN
HOVERGENP26678
HOGENOMP26678
Homologs : HomoloGenePLN
Homology/Alignments : Family Browser (UCSC)PLN
Gene fusions - Rearrangements
Fusion : QuiverPLN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLN
dbVarPLN
ClinVarPLN
1000_GenomesPLN 
Exome Variant ServerPLN
ExAC (Exome Aggregation Consortium)ENSG00000198523
GNOMAD BrowserENSG00000198523
Varsome BrowserPLN
Genetic variants : HAPMAP5350
Genomic Variants (DGV)PLN [DGVbeta]
DECIPHERPLN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLN 
Mutations
ICGC Data PortalPLN 
TCGA Data PortalPLN 
Broad Tumor PortalPLN
OASIS PortalPLN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PLN
DgiDB (Drug Gene Interaction Database)PLN
DoCM (Curated mutations)PLN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLN (select a term)
intoGenPLN
Cancer3DPLN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172405    609909    613874   
Orphanet635   
DisGeNETPLN
MedgenPLN
Genetic Testing Registry PLN
NextProtP26678 [Medical]
TSGene5350
GENETestsPLN
Target ValidationPLN
Huge Navigator PLN [HugePedia]
snp3D : Map Gene to Disease5350
BioCentury BCIQPLN
ClinGenPLN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5350
Chemical/Pharm GKB GenePA272
Clinical trialPLN
Miscellaneous
canSAR (ICR)PLN (select the gene name)
Probes
Litterature
PubMed139 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLN
EVEXPLN
GoPubMedPLN
iHOPPLN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:30:40 CET 2018

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