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Gene

P3H2

prolyl 3-hydroxylase 2

Summary

Cytogenetic location
3q28
Coordinates
Chromosome 3: 189,956,728–190,120,897 (GRCh38)
Exons
15 exons across 164.2 kb
Protein
708 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ10718, MLAT4
Previous symbols
LEPREL1
MANE Select transcript
ENST00000319332.10NM_018192.4
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

  • Vitreoretinopathy

    • High Myopia With Cataract and Vitreoretinal DegenerationAutosomal recessive

      A recessive condition caused by changes in both copies of P3H2, with severe short-sightedness, early cataract and vitreoretinal degeneration.

      • 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 P3H2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where P3H2 sits. P3H2 and 5 genes near it on chromosome 3, from 189,538,813 to 190,538,812.Chromosome 33q28p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29189.6 Mb189.8 Mb190 Mb190.2 Mb190.4 MbTP63: 189,631,252–189,897,276, forward strandTP63P3H2: 189,956,728–190,120,897, reverse strandP3H2CLDN1: 190,305,706–190,322,977, reverse strandCLDN1CLDN16: 190,322,522–190,412,460, forward strandCLDN16TMEM207: 190,428,655–190,449,901, reverse strandTMEM207IL1RAP: 190,487,420–190,659,750, forward strandIL1RAPDiagram of P3H2: 15 exons on the reverse strand of chromosome 3Exon 12: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 15: 189,956,728–189,958,004, 1,277 basesExon 14: 189,963,958–189,964,098, 141 basesExon 13: 189,970,816–189,970,891, 76 basesExon 12: 189,971,890–189,972,007, 118 basesExon 11: 189,972,874–189,973,024, 151 basesExon 10: 189,973,909–189,974,004, 96 basesExon 9: 189,974,558–189,974,685, 128 basesExon 8: 189,983,046–189,983,140, 95 basesExon 7: 189,984,550–189,984,590, 41 basesExon 6: 189,986,788–189,986,877, 90 basesExon 5: 189,987,527–189,987,669, 143 basesExon 4: 189,988,907–189,989,038, 132 basesExon 3: 189,994,094–189,994,283, 190 basesExon 2: 189,995,290–189,995,442, 153 basesExon 1: 190,120,252–190,120,897, 646 bases1510515′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 3.5 kb of the gene's 164.2 kb; 2,127 of those bases code for the protein.

How a genome test reads P3H2

11

positions in P3H2 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 164.2 kb of P3H2, introns included, not only the 3.5 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.). P3H2 gene: prolyl 3-hydroxylase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/p3h2

Vancouver

Dante Labs. P3H2 gene: prolyl 3-hydroxylase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/p3h2

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