PLN (phospholamban)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 5350
Gene name Phospholamban
Gene symbol PLN
Synonyms (NCBI Gene)
CMD1PCMH18PLB
Chromosome 6
Chromosome location 6q22.31
Summary 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 st
miRNA miRNA information provided by mirtarbase database.
9
Gene SNPs Other IDs Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT1242996 hsa-miR-4753-3p CLIP-seq
MIRT1242997 hsa-miR-4768-5p CLIP-seq
MIRT2071803 hsa-miR-4263 CLIP-seq
MIRT1242996 hsa-miR-4753-3p CLIP-seq
MIRT1242997 hsa-miR-4768-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
82
Gene SNPs Other IDs Associated diseases
Show/Hide all (82)
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IEA
GO:0001675 Process Acrosome assembly ISS
GO:0002026 Process Regulation of the force of heart contraction IC 19708671
GO:0002026 Process Regulation of the force of heart contraction IEA
GO:0004857 Function Enzyme inhibitor activity ISS 12032137
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
172405 9080 ENSG00000198523
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26678
Protein name Phospholamban (PLB)
Protein function Reversibly inhibits the activity of ATP2A2/SERCA2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) (PubMed:28890335). Binds preferentially to the ATP-bound E1 conformational form of ATP2A2 which pred
PDB 1PLP , 1ZLL , 2HYN , 6Y40 , 7E0Z , 7E11 , 7E12
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04272 Phospholamban 1 → 52 Phospholamban Domain
Tissue specificity TISSUE SPECIFICITY: Heart muscle (at protein level). {ECO:0000269|PubMed:17241641}.
Sequence
Sequence length 52
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
191
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (13)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular dysplasia 9 Pathogenic rs397516784 RCV000491072
Cardiac arrest Likely pathogenic; Pathogenic rs111033560 RCV000157420
Cardiomyopathy Pathogenic; Likely pathogenic rs111033559, rs111033560, rs397516784 RCV000769213
RCV000770226
RCV000183818
Cardiovascular phenotype Likely pathogenic; Pathogenic rs111033560, rs397516784 RCV000621703
RCV000244830
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dilated Cardiomyopathy, Dominant Likely benign; Uncertain significance rs141447190, rs779232815, rs886060999, rs765386927 RCV000303255
RCV000352591
RCV000261181
RCV000400268
Sarcoma Likely benign rs114121060 RCV005904176
Show/Hide Text Mining Associations (53)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Apical Hypertrophic Cardiomyopathy Associate 16829191
Arrhythmias Cardiac Associate 16339750, 23349452, 25923014, 28759816, 32911053, 33020536, 33928785, 34113975, 34516619, 37293707, 38403235
Arrhythmogenic Right Ventricular Dysplasia Associate 22820313, 24732829, 26569459, 31513489, 32911053, 33221241, 33831308, 34752915, 35008484, 35700631, 35805951
Atrial Fibrillation Associate 24249718, 37293707
Calcium Metabolism Disorders Associate 33020536, 34496741
Carcinoma Hepatocellular Inhibit 37047251
Cardiomegaly Associate 25923014
Cardiomyopathies Associate 16829191, 24732829, 25923014, 25928149, 26917049, 28759816, 31513489, 33020536, 33607378, 33928785, 34496741, 34767988, 34924461, 35247838, 37748331
View all (2 more)
Cardiomyopathy Dilated Associate 16829191, 17010801, 19638213, 21282613, 22820313, 23308118, 23349452, 24732829, 25225809, 26569459, 26917049, 27450564, 29501609, 29752948, 31513489
View all (16 more)
Cardiomyopathy Dilated with Left Ventricular Noncompaction Associate 34752915