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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLN
phospholamban
Chromosome 6 Β· 6q22.31
NCBI Gene: 5350Ensembl: ENSG00000198523.7HGNC: HGNC:9080UniProt: P26678
173PubMed Papers
22Diseases
0Drugs
12Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of ATPase-coupled calcium transmembrane transporter activitynegative regulation of heart rateregulation of ATPase-coupled calcium transmembrane transporter activityregulation of cardiac muscle cell contractionhypertrophic cardiomyopathyfamilial isolated dilated cardiomyopathycardiomyopathyintrinsic cardiomyopathy
✦AI Summary

Phospholamban (PLN) is a cardiac micropeptide that reversibly inhibits the sarco/endoplasmic reticulum Ca2+-ATPase (SERCA2a), thereby regulating calcium homeostasis and cardiac contractility 1. PLN binds preferentially to the ATP-bound E1 form of SERCA2a during diastole and decreases the enzyme's calcium affinity by disrupting ATP-mediated allosteric activation 1. PLN phosphorylation relieves this inhibition, allowing physiological regulation of cardiac muscle contraction in response to stimuli. The degree of SERCA2a inhibition depends on PLN's oligomeric state 1. Beyond cardiac muscle, PLN shares functional similarity with sarcolipin and myoregulin in regulating calcium uptake in the sarcoplasmic reticulum 2. Dysregulation of the SERCA-PLN axis is increasingly recognized as a pathogenic mechanism in cardiometabolic diseases, including heart failure and metabolic dysfunction-associated fatty liver disease, where reduced SERCA activity prolongs diastolic calcium clearance and promotes pathological signaling 3. Loss-of-function PLN variants, particularly the R14del mutation, cause dilated cardiomyopathy characterized by abnormal sarcoplasmic reticulum organization and calcium handling defects 4. Therapeutic strategies targeting PLN, including antisense oligonucleotides and DWORF gene therapy, show efficacy in preclinical cardiomyopathy models by improving cardiac function and survival 5, 4.

Sources cited
1
PLN reversibly inhibits SERCA2a by decreasing calcium affinity and disrupting ATP-mediated activation
PMID: 28890335
2
PLN shares structural and functional similarity with myoregulin and sarcolipin in regulating SR calcium uptake
PMID: 25640239
3
SERCA-PLN dysregulation is a shared pathogenic mechanism in cardiometabolic diseases including HF and metabolic liver disease
PMID: 41390717
4
PLN R14del causes abnormal SR organization and cardiomyopathy; DWORF overexpression improves survival in R14del mice
PMID: 37955153
5
PLN-targeting antisense oligonucleotides reverse heart failure phenotype in multiple cardiomyopathy models
PMID: 34462437
Disease Associationsβ“˜22
hypertrophic cardiomyopathyOpen Targets
0.75Strong
familial isolated dilated cardiomyopathyOpen Targets
0.74Strong
cardiomyopathyOpen Targets
0.53Moderate
intrinsic cardiomyopathyOpen Targets
0.50Moderate
dilated cardiomyopathyOpen Targets
0.49Moderate
atrial fibrillationOpen Targets
0.49Moderate
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.48Moderate
Abnormality of the cardiovascular systemOpen Targets
0.48Moderate
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.39Weak
familial isolated arrhythmogenic ventricular dysplasia, right dominant formOpen Targets
0.37Weak
sudden infant death syndromeOpen Targets
0.34Weak
sudden cardiac arrestOpen Targets
0.27Weak
cardiac arrestOpen Targets
0.26Weak
cardiac arrhythmiaOpen Targets
0.25Weak
atrial flutterOpen Targets
0.23Weak
hypertensionOpen Targets
0.23Weak
TachycardiaOpen Targets
0.23Weak
fractures, ununitedOpen Targets
0.22Weak
malunion fractureOpen Targets
0.22Weak
aortic valve diseaseOpen Targets
0.19Weak
Cardiomyopathy, dilated, 1PUniProt
Cardiomyopathy, familial hypertrophic, 18UniProt
Pathogenic Variants12
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)Pathogenic
Primary dilated cardiomyopathy|Cardiomyopathy|not provided|Dilated cardiomyopathy 1P|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Hypertrophic cardiomyopathy 18|SUDDEN INFANT DEATH SYNDROME|PLN-related cardiomyopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 14
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)Pathogenic
Dilated cardiomyopathy 1P|Hypertrophic cardiomyopathy 18|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|Sudden cardiac death|Cardiac arrest|not provided|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1P;Hypertrophic cardiomyopathy 18|Intrinsic cardiomyopathy|PLN-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 39
NM_002667.5(PLN):c.25C>T (p.Arg9Cys)Pathogenic
Dilated cardiomyopathy 1P|Primary dilated cardiomyopathy|not provided|Cardiomyopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 9
NM_002667.5(PLN):c.105_106del (p.Phe35fs)Pathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2025β†’ Residue 35
NM_002667.5(PLN):c.9dup (p.Val4fs)Pathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2025β†’ Residue 4
NM_002667.5(PLN):c.2T>G (p.Met1Arg)Pathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_002667.5(PLN):c.4G>T (p.Glu2Ter)Pathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2024β†’ Residue 2
NM_002667.5(PLN):c.26G>T (p.Arg9Leu)Likely pathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2024β†’ Residue 9
NM_002667.5(PLN):c.26_29dup (p.Ala11fs)Pathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2023β†’ Residue 11
NM_002667.5(PLN):c.95_98del (p.Phe32fs)Pathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2023β†’ Residue 32
NM_002667.5(PLN):c.63_64del (p.Gln22fs)Likely pathogenic
Hypertrophic cardiomyopathy 18
β˜…β˜†β˜†β˜†2021β†’ Residue 22
NC_000006.12:g.(?_118548061)_(118559090_?)delPathogenic
Dilated cardiomyopathy 1P
β˜…β˜†β˜†β˜†2019
View on ClinVar β†—
Related Genes
RYR2Protein interaction100%PRKACAProtein interaction94%PRKACBProtein interaction94%PRKACGProtein interaction94%PRKG1Protein interaction91%PPP1CCProtein interaction91%
Tissue Expression6 tissues
Heart
100%
Brain
1%
Lung
0%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PLNRYR2PRKACAPRKACBPRKACGPRKG1PPP1CC
PROTEIN STRUCTURE
Preparing viewer…
PDB6Y40 Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.70LoF Tolerant
pLIβ“˜
0.42Tolerant
Observed/Expected LoF0.00 [0.00–1.70]
RankingsWhere PLN stands among ~20K protein-coding genes
  • #2,553of 20,598
    Most Researched173 Β· top quartile
  • #2,656of 5,498
    Most Pathogenic Variants12
  • #16,121of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedPLN
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
A micropeptide encoded by a putative long noncoding RNA regulates muscle performance.
PMID: 25640239
Cell Β· 2015
1.00
2
The SERCA-PLN-DWORF axis in cardiometabolic disease: mechanisms and therapeutic perspectives.
PMID: 41390717
Cardiovasc Diabetol Β· 2025
0.90
3
Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy.
PMID: 34462437
Nat Commun Β· 2021
0.80
4
Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative.
PMID: 37748331
Stem Cell Res Β· 2023
0.72
5
Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy.
PMID: 33928785
Circulation Β· 2021
0.70