Identity
HGNC
LOCATION
6q22.31
LOCUSID
ALIAS
CMD1P,CMH18,PLB
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5350
MIM: 172405
HGNC: 9080
Ensembl: ENSG00000198523
Variants:
dbSNP: 5350
ClinVar: 5350
TCGA: ENSG00000198523
COSMIC: PLN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000198523 | ENST00000357525 | P26678 |
| ENSG00000198523 | ENST00000357525 | Q5R352 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38387507 | 2024 | Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy. | 0 |
| 38387507 | 2024 | Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy. | 0 |
| 36622581 | 2023 | Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers. | 1 |
| 36622581 | 2023 | Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers. | 1 |
| 35605666 | 2022 | Inhibitory and stimulatory micropeptides preferentially bind to different conformations of the cardiac calcium pump. | 10 |
| 35700631 | 2022 | Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C. | 2 |
| 35805951 | 2022 | Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca(2+) Handling and Arrhythmogenesis. | 6 |
| 35605666 | 2022 | Inhibitory and stimulatory micropeptides preferentially bind to different conformations of the cardiac calcium pump. | 10 |
| 35700631 | 2022 | Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C. | 2 |
| 35805951 | 2022 | Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca(2+) Handling and Arrhythmogenesis. | 6 |
| 32911053 | 2021 | Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram? | 13 |
| 33401921 | 2021 | Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers. | 17 |
| 33438037 | 2021 | When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. | 12 |
| 33928785 | 2021 | Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy. | 23 |
| 33998164 | 2021 | Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation. | 23 |
Citation
Dessen P
PLN (phospholamban)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56033/pln-(phospholamban)
