PLN phospholamban
Gene ID: 5350, updated on 2-Nov-2024Gene type: protein coding
Also known as: PLB; CMD1P; CMH18
- See all available tests in GTR for this gene
- Go to complete Gene record for PLN
- Go to Variation Viewer for PLN variants
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. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. GeneReviews: Not available | |
| Common variants at ten loci influence QT interval duration in the QTGEN Study. GeneReviews: Not available | |
| Common variants at ten loci modulate the QT interval duration in the QTSCD Study. GeneReviews: Not available | |
| Dilated cardiomyopathy 1P | See labs |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. GeneReviews: Not available | |
| Hypertrophic cardiomyopathy 18 | See labs |
| Impact of ancestry and common genetic variants on QT interval in African Americans. GeneReviews: Not available | |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Genomic context
- Location:
- 6q22.31
- Sequence:
- Chromosome: 6; NC_000006.12 (118548296..118561716)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PLN database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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