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Gene

PLS3

plastin 3

Summary

Cytogenetic location
Xq23
Coordinates
Chromosome X: 115,561,174–115,650,861 (GRCh38)
Exons
16 exons across 89.7 kb
Protein
630 amino acids
Also known as
T-plastin
MANE Select transcript
ENST00000355899.8NM_005032.7
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

  • Congenital Diaphragmatic Hernia (Monogenic)

    • Congenital Diaphragmatic Hernia

      Incomplete formation of the diaphragm present at birth, which in a minority of families is linked to single genes such as ZFPM2, GATA4, NR2F2, ALDH1A2 or PLS3, often with incomplete penetrance.

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

      Knowing is mainly relevant to family planning, as it can inform recurrence risk and the option of prenatal imaging in a future pregnancy.

  • Monogenic Early-Onset Osteoporosis

    • X-linked osteoporosis with fractures (PLS3-related)

      Early-onset osteoporosis with fractures, including vertebral fractures, caused by PLS3 variants; males are usually more severely affected than females.

      • 4 GenCC submitters rate it definitive or strong

How PLS3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where PLS3 sits. PLS3 and 3 genes near it on chromosome X, from 115,106,018 to 116,106,017.Chromosome XXq23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28115.2 Mb115.4 Mb115.6 Mb115.8 Mb116 MbLRCH2: 115,110,613–115,234,096, reverse strandLRCH2RBMXL3: 115,189,410–115,192,868, forward strandRBMXL3LUZP4: 115,289,715–115,307,563, forward strandLUZP4PLS3: 115,561,174–115,650,861, forward strandPLS3Diagram of PLS3: 16 exons on the forward strand of chromosome XExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 1: 115,561,174–115,561,260, 87 basesExon 2: 115,610,243–115,610,323, 81 basesExon 3: 115,622,246–115,622,409, 164 basesExon 4: 115,629,198–115,629,327, 130 basesExon 5: 115,629,835–115,629,967, 133 basesExon 6: 115,634,000–115,634,081, 82 basesExon 7: 115,634,881–115,635,046, 166 basesExon 8: 115,636,836–115,636,978, 143 basesExon 9: 115,640,408–115,640,503, 96 basesExon 10: 115,643,313–115,643,508, 196 basesExon 11: 115,645,021–115,645,099, 79 basesExon 12: 115,646,072–115,646,186, 115 basesExon 13: 115,646,402–115,646,535, 134 basesExon 14: 115,647,550–115,647,673, 124 basesExon 15: 115,647,893–115,648,017, 125 basesExon 16: 115,649,429–115,650,861, 1,433 bases151015165′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 3.3 kb of the gene's 89.7 kb; 1,893 of those bases code for the protein.

How a genome test reads PLS3

3

positions in PLS3 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 89.7 kb of PLS3, introns included, not only the 3.3 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.). PLS3 gene: plastin 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/pls3

Vancouver

Dante Labs. PLS3 gene: plastin 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pls3

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