PLN (phospholamban)

Gene
Gene SNPs Other IDs 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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMD1P, CMH18
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 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 information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(49)
GO ID Ontology Definition Evidence Reference
GO:0002026 Process Regulation of the force of heart contraction IC 19708671
GO:0004857 Function Enzyme inhibitor activity ISS 12032137
GO:0005515 Function Protein binding IPI 15598648, 24722188, 25416956, 25910212, 31515488, 32296183
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005783 Component Endoplasmic reticulum ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
172405 9080 ENSG00000198523
Protein
Gene SNPs Other IDs 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy 18 GenCC
Myopathy dilated cardiomyopathy 1P, intrinsic cardiomyopathy GenCC
Ventricular Cardiomyopathy arrhythmogenic right ventricular cardiomyopathy GenCC
Dilated Cardiomyopathy familial isolated dilated cardiomyopathy GenCC
Show/Hide Text Mining Associations (53)
Associations from Text Mining
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