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Aliases for P3H2 Gene

Aliases for P3H2 Gene

  • Prolyl 3-Hydroxylase 2 2 3
  • LEPREL1 3 4 6
  • Myxoid Liposarcoma-Associated Protein 4 3 4
  • Leprecan-Like 1 2 3
  • EC 1.14.11.7 4 63
  • MLAT4 3 4
  • MCVD 3 6
  • Leprecan-Like Protein 1 4
  • Prolyl 3-Hydroxylase 3 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. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. An important paralog of this gene is CRTAP.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for P3H2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for P3H2 Gene

Protein Domains for P3H2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IVL5

UniProtKB/Swiss-Prot:

P3H2_HUMAN :
  • Q8IVL5
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 and Suggested Antigen Peptide Sequences 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:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors --
GO:0019797 procollagen-proline 3-dioxygenase activity IDA 18487197
genes like me logo Genes that share ontologies with P3H2: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for P3H2 Gene

Localization for P3H2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P3H2 Gene

Endoplasmic reticulum. Golgi apparatus.

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 15063763
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IDA 15063763
genes like me logo Genes that share ontologies with P3H2: view

No data available for Subcellular locations from COMPARTMENTS for P3H2 Gene

Pathways 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

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:0030198 extracellular matrix organization TAS --
GO:0032963 collagen metabolic process IDA 18487197
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies 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

Integrated Proteomics: protein expression 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 expressions 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
chimpanzee
(Pan troglodytes)
Mammalia LEPREL1 35
  • 99.25 (n)
  • 99.29 (a)
LEPREL1 36
  • 99 (a)
OneToOne
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)
Leprel1 16
Leprel1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LEPREL1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LEPREL1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Leprel1 35
  • 86.91 (n)
  • 91.47 (a)
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 leprel1 36
  • 58 (a)
OneToOne
LOC566697 35
  • 60.77 (n)
  • 59.61 (a)
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 MAF
rs9804 -- 189,957,115(+) TTCCA(A/C)CAAGG utr-variant-3-prime
rs710540 -- 189,966,618(+) ATGAA(C/G)TTTGG intron-variant
rs710541 -- 189,967,287(+) ATTCT(G/T)GGTTT intron-variant
rs710542 -- 189,969,454(+) ATATG(A/G)CACAC intron-variant
rs710543 -- 189,972,115(+) TGGGC(A/G)GAGGC intron-variant

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

(1) OMIM Diseases for P3H2 Gene (610341)

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.

No disorders were found for P3H2 Gene.

Publications for P3H2 Gene

  1. 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 4
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. 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

Products for P3H2 Gene

Sources for P3H2 Gene

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