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Gene

PLN

phospholamban

Summary

Cytogenetic location
6q22.31
Coordinates
Chromosome 6: 118,548,296–118,561,716 (GRCh38)
Exons
2 exons across 13.4 kb
Protein
52 amino acids
Inheritance
Autosomal dominant
Also known as
CMD1P
Previous symbols
PLB
MANE Select transcript
ENST00000357525.6NM_002667.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Arrhythmogenic Cardiomyopathy

    • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

      Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.

      • ClinGen rates the link moderate
      What knowing changes

      A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PLN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where PLN sits. PLN and 5 genes near it on chromosome 6, from 118,055,006 to 119,055,005.Chromosome 66q22.31p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27118.2 Mb118.4 Mb118.6 Mb118.8 Mb119 MbSLC35F1: 117,907,264–118,318,566, forward strandSLC35F1CEP85L: 118,460,760–118,710,098, reverse strandCEP85LPLN: 118,548,296–118,561,716, forward strandPLNMCM9: 118,813,260–118,935,170, reverse strandMCM9ASF1A: 118,894,020–118,909,264, forward strandASF1AFAM184A: 118,957,707–119,149,387, reverse strandFAM184ADiagram of PLN: 2 exons on the forward strand of chromosome 6Exon 2: 14 known disease-causing sitesExon 1: 118,548,296–118,548,392, 97 basesExon 2: 118,558,825–118,561,716, 2,892 bases125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3 kb of the gene's 13.4 kb; 159 of those bases code for the protein.

How a genome test reads PLN

14

positions in PLN where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 13.4 kb of PLN, introns included, not only the 3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PLN gene: phospholamban. Retrieved 16 October 2026, from https://dantelabs.com/genes/pln

Vancouver

Dante Labs. PLN gene: phospholamban [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pln

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