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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 1.14.11.7 4 63
  • 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

  • LEPREL1

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 Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. 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 P3H4.

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.

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

Genomics for P3H2 Gene

Genomic Location for P3H2 Gene

Chromosome:
3
Start:
189,956,728 bp from pter
End:
190,122,437 bp from pter
Size:
165,710 bases
Orientation:
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

No data available for Regulatory Elements for P3H2 Gene

Proteins for P3H2 Gene

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

    Protein Symbol:
    Q8IVL5-P3H2_HUMAN
    Recommended name:
    Prolyl 3-hydroxylase 2
    Protein Accession:
    Q8IVL5
    Secondary Accessions:
    • B3KPK0
    • B3KWI9
    • D3DNV8
    • Q9NVI2

    Protein attributes for P3H2 Gene

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

    Alternative splice isoforms for P3H2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P3H2 Gene

Proteomics data for P3H2 Gene at MOPED

Post-translational modifications for P3H2 Gene

  • Glycosylation at Asn 449 and Asn 549
  • Modification sites at PhosphoSitePlus

Other Protein References for P3H2 Gene

Domains & Families for P3H2 Gene

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

Q8IVL5

UniProtKB/Swiss-Prot:

P3H2_HUMAN :
  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the leprecan family.
  • Contains 4 TPR repeats.
Domain:
  • Contains 1 Fe2OG dioxygenase domain.
Family:
  • Belongs to the leprecan family.
Similarity:
  • Contains 4 TPR repeats.
genes like me logo Genes that share domains with P3H2: view

No data available for Gene Families for P3H2 Gene

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

Gene Ontology (GO) - Molecular Function for P3H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 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:

Animal Model 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components 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

Interacting Proteins for P3H2 Gene

Gene Ontology (GO) - Biological Process for P3H2 Gene

None

No data available for SIGNOR curated interactions for P3H2 Gene

Drugs & Compounds for P3H2 Gene

(3) 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 424,424

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Hydroxy-L-proline
  • Procollagen trans-3-hydroxy-L-proline
4298-08-2
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with P3H2: view

Transcripts for P3H2 Gene

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

No ASD Table

Relevant External Links for P3H2 Gene

GeneLoc Exon Structure for
P3H2
ECgene alternative splicing isoforms for
P3H2

Expression for P3H2 Gene

mRNA expression in normal human tissues 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, and MOPED for P3H2 Gene



mRNA Expression by UniProt/SwissProt for P3H2 Gene

Q8IVL5-P3H2_HUMAN
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.
genes like me logo Genes that share expression patterns with P3H2: view

Protein tissue co-expression partners for P3H2 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia LEPREL1 35
  • 89.42 (n)
  • 93.2 (a)
LEPREL1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LEPREL1 35
  • 89.85 (n)
  • 91.78 (a)
LEPREL1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Leprel1 35
  • 85.85 (n)
  • 90.9 (a)
P3h2 16
Leprel1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LEPREL1 35
  • 99.25 (n)
  • 99.29 (a)
LEPREL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Leprel1 35
  • 86.91 (n)
  • 91.47 (a)
oppossum
(Monodelphis domestica)
Mammalia LEPREL1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LEPREL1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves LEPREL1 35
  • 73.38 (n)
  • 75.94 (a)
LEPREL1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LEPREL1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia leprel1 35
  • 65.76 (n)
  • 65.91 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC566697 35
  • 60.77 (n)
  • 59.61 (a)
leprel1 36
  • 58 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y73F8A.26 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6092 36
  • 27 (a)
ManyToMany
Species with no ortholog for P3H2:
  • 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

ENSEMBL:
Gene Tree for P3H2 (if available)
TreeFam:
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
VAR_036123 A breast cancer sample
VAR_066637 Myopia, high, with cataract and vitreoretinal degeneration (MCVD)
rs9804 -- 189,957,115(+) TTCCA(A/C)CAAGG utr-variant-3-prime
rs857529 -- 189,997,053(+) AGTCT(C/T)GCTCT intron-variant
rs858133 -- 190,117,938(+) TCTCA(A/G)AAATA intron-variant

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

HapMap Linkage Disequilibrium report
P3H2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for P3H2 Gene

Disorders for P3H2 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search P3H2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

P3H2_HUMAN
  • 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:
P3H2
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 O.S. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer. (PMID: 19436308) Shah R. … Crook T. (Br. J. Cancer 2009) 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. LEPREL1, a novel ER and Golgi resident member of the Leprecan family. (PMID: 15063763) Jaernum S. … Aaman P. (Biochem. Biophys. Res. Commun. 2004) 2 3

Products for P3H2 Gene

Sources for P3H2 Gene

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