PLN

Chr 6q22.31

phospholamban

Aliases:: CMD1P
MANE:: ENST00000357525.6

OMIM: 172405 ↗NCBI: 5350 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PLN · P26678

v62025-08-01

Predicted Aligned Error matrix for PLN — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.9/ 100

Confident

52 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)39%
Low(50–70)21%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy
Hereditary neuropathy or pain disorder

Disease associations (Open Targets)

hypertrophic cardiomyopathy
0.72
familial isolated dilated cardiomyopathy
0.64
cardiomyopathy
0.53
intrinsic cardiomyopathy
0.50
Abnormality of the cardiovascular system
0.48
dilated cardiomyopathy
0.48
Rare familial disorder with hypertrophic cardiomyopathy
0.47
atrial fibrillation
0.46
Arrhythmogenic right ventricular dysplasia
0.38
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phospholamban

Reversibly inhibits the activity of ATP2A2/SERCA2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) (PubMed:28890335). Binds preferentially to the ATP-bound E1 conformational form of ATP2A2 which predominates at low Ca(2+) concentrations during the diastolic phase of the cardiac cycle (By similarity). Inhibits ATP2A2 Ca(2+) affinity by disrupting its allosteric activation by ATP (By similarity). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation (By similarity). Also inhibits the activity of ATP2A3/SERCA3 (By similarity). Controls intracellular Ca(2+) levels in elongated spermatids and may play a role in germ cell differentiation (By similarity). In the thalamic reticular nucleus of the brain, plays a role in the regulation of sleep patterns and executive functioning (By similarity)