PLN (phospholamban)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5350
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholamban
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLN
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1P, CMH18, PLB
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.31
Summary Summary of gene provided in NCBI Entrez 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 st
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways 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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
172405 9080 ENSG00000198523
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Adrenergic signaling in cardiomyocytes
Thyroid hormone signaling pathway
Dilated cardiomyopathy
Diabetic cardiomyopathy 		  Ion homeostasis
Ion transport by P-type ATPases
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
cardiomyopathy Cardiomyopathy rs111033559, rs111033560, rs397516784 N/A
Cardiomyopathy Primary dilated cardiomyopathy rs111033559, rs111033560, rs397516784 N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1P rs397516784, rs111033559, rs111033560 N/A
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy 18 rs397516784, rs111033560 N/A
Show/Hide Text Mining Associations (53)
Associations from Text Mining Disease 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