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Aliases for P3H2 Gene

Aliases for P3H2 Gene

  • Prolyl 3-Hydroxylase 2 2 3 5
  • Myxoid Liposarcoma-Associated Protein 4 3 4
  • Procollagen-Proline 3-Dioxygenase 2 2 3
  • Leprecan-Like 1 2 3
  • EC 4 58
  • LEPREL1 3 4
  • MLAT4 3 4
  • Leprecan-Like Protein 1 4
  • Prolyl 3-Hydroxylase 3 3
  • MCVD 3

External Ids for P3H2 Gene

Previous HGNC Symbols for P3H2 Gene


Summaries for P3H2 Gene

Entrez Gene Summary for P3H2 Gene

  • This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for P3H2 Gene

P3H2 (Prolyl 3-Hydroxylase 2) is a Protein Coding gene. Diseases associated with P3H2 include Myopia, High, With Cataract And Vitreoretinal Degeneration and Rare Isolated Myopia. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is P3H1.

UniProtKB/Swiss-Prot for P3H2 Gene

  • Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V.

Additional gene information for P3H2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P3H2 Gene

Genomics for P3H2 Gene

Regulatory Elements for P3H2 Gene

Enhancers for P3H2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H190075 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.6 +45.5 45494 3 MXI1 JUN ZNF133 INSM2 SIN3A RFX5 POLR2A RCOR1 FOS ZNF600 P3H2 P3H2-AS1 GC03P190094 MTAPP2
GH03H190040 1.2 Ensembl ENCODE dbSUPER 20.2 +79.4 79354 5.5 ZNF10 JUNB RELA GATA3 PRDM6 ZNF316 MAFF EED POU5F1 EMSY P3H2 P3H2-AS1 CLDN16 CLDN1 GC03P190094 MTAPP2
GH03H190062 1.2 Ensembl ENCODE dbSUPER 18.7 +58.6 58614 3.2 JUN INSM2 CEBPB EP300 RFX5 JUND SCRT2 SMC3 RCOR1 FOS P3H2 P3H2-AS1 CLDN16 CLDN1 GC03P190094 MTAPP2
GH03H190055 1 Ensembl ENCODE dbSUPER 22.2 +63.7 63697 5.7 MAFK SPI1 NR2F2 P3H2 P3H2-AS1 GC03P190094 MTAPP2
GH03H189961 1.3 Ensembl ENCODE dbSUPER 16.5 +160.7 160722 1 GTF2F1 ELF3 CTCF MXI1 MAX BRCA1 ZNF2 RAD21 RFX5 TEAD3 P3H2 P3H2-AS1 CLDN1 CLDN16 MTAPP2 MIR944
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around P3H2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for P3H2 Gene

Genomic Locations for P3H2 Gene
165,710 bases
Minus strand

Genomic View for P3H2 Gene

Genes around P3H2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P3H2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P3H2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P3H2 Gene

Proteins for P3H2 Gene

  • Protein details for P3H2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Prolyl 3-hydroxylase 2
    Protein Accession:
    Secondary Accessions:
    • B3KPK0
    • B3KWI9
    • D3DNV8
    • Q9NVI2

    Protein attributes for P3H2 Gene

    708 amino acids
    Molecular mass:
    80984 Da
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    No Data Available
    • Sequence=BAA91769.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for P3H2 Gene


neXtProt entry for P3H2 Gene

Selected DME Specific Peptides for P3H2 Gene


Post-translational modifications for P3H2 Gene

  • Glycosylation at Asn449 and posLast=549549
  • Modification sites at PhosphoSitePlus

Other Protein References for P3H2 Gene

Domains & Families for P3H2 Gene

Gene Families for P3H2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for P3H2 Gene

Suggested Antigen Peptide Sequences for P3H2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the leprecan family.
  • Belongs to the leprecan family.
genes like me logo Genes that share domains with P3H2: view

Function for P3H2 Gene

Molecular function for P3H2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V.

Enzyme Numbers (IUBMB) for P3H2 Gene

Phenotypes From GWAS Catalog for P3H2 Gene

Gene Ontology (GO) - Molecular Function for P3H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0019797 procollagen-proline 3-dioxygenase activity IEA,IDA 18487197
GO:0031418 L-ascorbic acid binding IEA --
genes like me logo Genes that share ontologies with P3H2: view
genes like me logo Genes that share phenotypes with P3H2: view

Human Phenotype Ontology for P3H2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for P3H2 Gene

MGI Knock Outs for P3H2:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for P3H2 Gene

Localization for P3H2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P3H2 Gene

Endoplasmic reticulum. Golgi apparatus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P3H2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
lysosome 1

Gene Ontology (GO) - Cellular Components for P3H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane ISS --
GO:0005783 endoplasmic reticulum IDA,IEA 15063763
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IEA,IDA 15063763
genes like me logo Genes that share ontologies with P3H2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for P3H2 Gene

Pathways & Interactions for P3H2 Gene

genes like me logo Genes that share pathways with P3H2: view

Pathways by source for P3H2 Gene

Gene Ontology (GO) - Biological Process for P3H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation IDA 19436308
GO:0019511 peptidyl-proline hydroxylation IDA 18487197
GO:0032963 collagen metabolic process IDA 18487197
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with P3H2: view

No data available for SIGNOR curated interactions for P3H2 Gene

Drugs & Compounds for P3H2 Gene

(4) Drugs for P3H2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Vitamin C Approved Nutra Target 560,560
Oxygen Approved, Vet_approved Pharma 0

(3) Additional Compounds for P3H2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Procollagen trans-3-hydroxy-L-proline
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
genes like me logo Genes that share compounds with P3H2: view

Transcripts for P3H2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for P3H2 Gene

No ASD Table

Relevant External Links for P3H2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for P3H2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for P3H2 Gene

Protein differential expression in normal tissues from HIPED for P3H2 Gene

This gene is overexpressed in Retina (18.7), Adrenal (16.8), Testis (16.1), and Spinal cord (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P3H2 Gene

Protein tissue co-expression partners for P3H2 Gene

NURSA nuclear receptor signaling pathways regulating expression of P3H2 Gene:


mRNA Expression by UniProt/SwissProt for P3H2 Gene:

Tissue specificity: Expressed in heart, placenta, lung, liver, skeletal muscle and kidney. Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells.

Evidence on tissue expression from TISSUES for P3H2 Gene

  • Lung(4.4)
  • Blood(2.4)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for P3H2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with P3H2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for P3H2 Gene

Orthologs for P3H2 Gene

This gene was present in the common ancestor of animals.

Orthologs for P3H2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LEPREL1 33 34
  • 99.25 (n)
(Canis familiaris)
Mammalia LEPREL1 33 34
  • 89.85 (n)
(Bos Taurus)
Mammalia LEPREL1 33 34
  • 89.42 (n)
(Rattus norvegicus)
Mammalia Leprel1 33
  • 86.91 (n)
(Mus musculus)
Mammalia Leprel1 33 34
  • 85.85 (n)
P3h2 16
(Ornithorhynchus anatinus)
Mammalia LEPREL1 34
  • 85 (a)
(Monodelphis domestica)
Mammalia LEPREL1 34
  • 63 (a)
(Gallus gallus)
Aves LEPREL1 33 34
  • 73.38 (n)
(Anolis carolinensis)
Reptilia LEPREL1 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia leprel1 33
  • 65.76 (n)
(Danio rerio)
Actinopterygii LOC566697 33
  • 60.77 (n)
leprel1 34
  • 58 (a)
(Caenorhabditis elegans)
Secernentea Y73F8A.26 34
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6092 34
  • 27 (a)
Species where no ortholog for P3H2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for P3H2 Gene

Gene Tree for P3H2 (if available)
Gene Tree for P3H2 (if available)

Paralogs for P3H2 Gene

Paralogs for P3H2 Gene

genes like me logo Genes that share paralogs with P3H2: view

Variants for P3H2 Gene

Sequence variations from dbSNP and Humsavar for P3H2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs724159988 Pathogenic, Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292] 189,973,934(-) TGAAG(G/T)TGCAA reference, missense
VAR_036123 A breast cancer sample
rs724160006 Pathogenic 189,995,367(-) TGCAG(C/T)AGAAC reference, stop-gained
rs875989838 Pathogenic 190,120,435(-) CCCCC(-/C)GGCGA intron-variant, upstream-variant-2KB, reference, frameshift-variant
rs1000052201 -- 190,045,462(+) TCATT(C/T)TTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for P3H2 Gene

Variant ID Type Subtype PubMed ID
nsv822377 CNV gain 20364138
nsv822375 CNV loss 20364138
nsv821335 CNV deletion 20802225
nsv820136 CNV loss 19587683
nsv819981 CNV gain 19587683
nsv592793 CNV loss 21841781
nsv592791 CNV loss 21841781
nsv592790 CNV loss 21841781
nsv592787 CNV loss 21841781
nsv527677 CNV loss 19592680
nsv527011 CNV loss 19592680
nsv517071 CNV gain+loss 19592680
nsv514192 CNV loss 21397061
nsv437903 CNV loss 16468122
nsv1139188 CNV deletion 24896259
nsv1131749 CNV deletion 24896259
nsv1128012 CNV deletion 24896259
nsv1123723 CNV deletion 24896259
nsv1072867 CNV deletion 25765185
nsv10368 CNV gain+loss 18304495
nsv1014822 CNV gain 25217958
esv6476 CNV loss 19470904
esv3893843 CNV gain 25118596
esv3893842 CNV loss 25118596
esv3893841 CNV loss 25118596
esv3599065 CNV loss 21293372
esv3599064 CNV loss 21293372
esv3599063 CNV loss 21293372
esv3563073 CNV deletion 23714750
esv33775 CNV loss 17666407
esv32747 CNV gain 17666407
esv27411 CNV loss 19812545
esv2726375 CNV deletion 23290073
esv2726373 CNV deletion 23290073
esv2726372 CNV deletion 23290073
esv2726371 CNV deletion 23290073
esv2664192 CNV deletion 23128226
esv2659807 CNV deletion 23128226
esv2630337 CNV deletion 19546169
esv2483637 CNV loss 19546169
esv2421763 CNV deletion 20811451
esv22891 CNV gain+loss 19812545
esv2002247 CNV deletion 18987734
esv1001571 CNV insertion 20482838
dgv901e199 CNV deletion 23128226
dgv8791n54 CNV loss 21841781
dgv8790n54 CNV gain+loss 21841781
dgv8789n54 CNV loss 21841781
dgv8788n54 CNV gain+loss 21841781
dgv8787n54 CNV loss 21841781
dgv8786n54 CNV loss 21841781
dgv8785n54 CNV loss 21841781
dgv8784n54 CNV loss 21841781
dgv845n67 CNV loss 20364138
dgv2657n106 CNV deletion 24896259

Variation tolerance for P3H2 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P3H2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P3H2 Gene

Disorders for P3H2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for P3H2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopia, high, with cataract and vitreoretinal degeneration
  • high myopia with cataract and vitreoretinal degeneration
rare isolated myopia
lens subluxation
  • subluxation of lens
vitreoretinal degeneration
  • near vision
- elite association - COSMIC cancer census association via MalaCards
Search P3H2 in MalaCards View complete list of genes associated with diseases


  • Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]: A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. {ECO:0000269 PubMed:21885030}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for P3H2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with P3H2: view

No data available for Genatlas for P3H2 Gene

Publications for P3H2 Gene

  1. High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. (PMID: 21885030) Mordechai S … Birk OS (American journal of human genetics 2011) 2 3 4 60
  2. LEPREL1, a novel ER and Golgi resident member of the Leprecan family. (PMID: 15063763) Järnum S … Aman P (Biochemical and biophysical research communications 2004) 2 3 4 60
  3. The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer. (PMID: 19436308) Shah R … Crook T (British journal of cancer 2009) 3 22 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for P3H2 Gene

Sources for P3H2 Gene

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