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Gene

PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

Summary

Cytogenetic location
7q22.1
Coordinates
Chromosome 7: 101,205,984–101,217,581 (GRCh38)
Exons
19 exons across 11.6 kb
Protein
738 amino acids
Inheritance
Autosomal recessive
Also known as
LH3
MANE Select transcript
ENST00000223127.8NM_001084.5
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 report relevant to this gene

  • Ehlers-Danlos Syndrome

    • Lysyl hydroxylase 3 deficiency (PLOD3)Autosomal recessive

      Bone fragility, contractures, arterial rupture and deafness caused by PLOD3 variants; overlaps Ehlers-Danlos syndromes.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PLOD3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where PLOD3 sits. PLOD3 and 23 genes near it on chromosome 7, from 100,711,783 to 101,711,782.Chromosome 77q22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3100.8 Mb101 Mb101.2 Mb101.4 Mb101.6 MbEPO: 100,720,465–100,723,700, forward strandEPOZAN: 100,733,595–100,797,797, forward strandZANEPHB4: 100,802,563–100,827,584, reverse strandEPHB4SLC12A9: 100,826,820–100,867,017, forward strandTRIP6: 100,867,126–100,873,524, forward strandTRIP6SRRT: 100,875,065–100,888,664, forward strandSRRTUFSP1: 100,888,721–100,889,715, reverse strandUFSP1ACHE: 100,889,993–100,897,022, reverse strandACHEMUC3A: 100,949,414–100,968,348, forward strandMUC3AMUC12: 100,969,431–101,018,940, forward strandMUC12MUC17: 101,020,072–101,058,859, forward strandMUC17TRIM56: 101,085,234–101,097,967, forward strandTRIM56SERPINE1: 101,122,158–101,139,263, forward strandAP1S1: 101,154,352–101,161,596, forward strandAP1S1VGF: 101,162,509–101,167,245, reverse strandVGFNAT16: 101,170,496–101,180,301, reverse strandNAT16MOGAT3: 101,195,007–101,201,088, reverse strandMOGAT3PLOD3: 101,205,984–101,217,581, reverse strandPLOD3ZNHIT1: 101,218,117–101,224,195, forward strandZNHIT1CLDN15: 101,232,092–101,238,820, reverse strandCLDN15FIS1: 101,239,458–101,252,321, reverse strandIFT22: 101,310,914–101,321,831, reverse strandIFT22COL26A1: 101,362,407–101,559,029, forward strandCOL26A1MYL10: 101,613,330–101,629,296, reverse strandMYL10Diagram of PLOD3: 19 exons on the reverse strand of chromosome 7Exon 19: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 19: 101,205,984–101,206,436, 453 basesExon 18: 101,206,779–101,206,904, 126 basesExon 17: 101,207,578–101,207,724, 147 basesExon 16: 101,208,853–101,208,957, 105 basesExon 15: 101,210,093–101,210,161, 69 basesExon 14: 101,210,331–101,210,444, 114 basesExon 13: 101,210,532–101,210,673, 142 basesExon 12: 101,211,591–101,211,716, 126 basesExon 11: 101,211,846–101,211,950, 105 basesExon 10: 101,212,253–101,212,374, 122 basesExon 9: 101,212,530–101,212,655, 126 basesExon 8: 101,212,842–101,212,943, 102 basesExon 7: 101,213,107–101,213,204, 98 basesExon 6: 101,215,089–101,215,152, 64 basesExon 5: 101,215,908–101,216,020, 113 basesExon 4: 101,216,163–101,216,326, 164 basesExon 3: 101,216,410–101,216,546, 137 basesExon 2: 101,216,695–101,216,786, 92 basesExon 1: 101,217,166–101,217,581, 416 bases191816141210864215′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 2.8 kb of the gene's 11.6 kb; 2,217 of those bases code for the protein.

How a genome test reads PLOD3

9

positions in PLOD3 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 11.6 kb of PLOD3, introns included, not only the 2.8 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.). PLOD3 gene: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/plod3

Vancouver

Dante Labs. PLOD3 gene: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/plod3

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