PLN (phospholamban)

2016-10-01  

Identity

HGNC
LOCATION
6q22.31
LOCUSID
ALIAS
CMD1P,CMH18,PLB
FUSION GENES

Other Information

Locus ID:

NCBI: 5350
MIM: 172405
HGNC: 9080
Ensembl: ENSG00000198523

Variants:

dbSNP: 5350
ClinVar: 5350
TCGA: ENSG00000198523
COSMIC: PLN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198523ENST00000357525P26678
ENSG00000198523ENST00000357525Q5R352

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Calcium signaling pathwayKEGGhsa04020
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Thyroid hormone signaling pathwayKEGGhsa04919
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193054082009Common variants at ten loci influence QT interval duration in the QTGEN Study.190
126103102003Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.189
193054092009Common variants at ten loci modulate the QT interval duration in the QTSCD Study.162
164321882006A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.106
160436932005The structure of phospholamban pentamer reveals a channel-like architecture in membranes.101
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.93
228203132012Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.85
215764922011Structural topology of phospholamban pentamer in lipid bilayers by a hybrid solution and solid-state NMR method.77
125256982003Modeling of the inhibitory interaction of phospholamban with the Ca2+ ATPase.65
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.61

Citation

Dessen P

PLN (phospholamban)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56033/pln