Gene: PLN

Alternate names for this Gene: CMD1P|CMH18|PLB

Gene 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 state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.31

Description of this Gene: phospholamban

Type of Gene: protein-coding

Gene: CEP85L

Alternate names for this Gene: C6orf204|LIS10|NY-BR-15|bA57K17.2

Gene Summary: The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.31

Description of this Gene: centrosomal protein 85 like

Type of Gene: protein-coding

rs111033559 in PLN;CEP85L gene and CARDIOMYOPATHY, DILATED, 1P PMID 22137083 2011 Mutations in the human phospholamban gene in patients with heart failure.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 12610310 2003 Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 21167350 2011 PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

PMID 26535225 2015 Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

PMID 12639993 2003 Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 17655857 2007 Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

rs111033559 in PLN;CEP85L gene and Cardiomyopathy, Dilated PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 19139388 2009 Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 18056057 2008 Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.

PMID 21282613 2011 Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.

PMID 25593317 2015 Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.

PMID 12610310 2003 Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.

PMID 25928149 2015 A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

PMID 23308118 2013 Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.

rs111033560 in PLN;CEP85L gene and Hypertrophic Cardiomyopathy PMID 17655857 2007 Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

PMID 21167350 2011 PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

PMID 23861362 2013 Interpreting secondary cardiac disease variants in an exome cohort.

PMID 16235537 2005 [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].

PMID 12639993 2003 Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.

PMID 21332051 2011 Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.