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    P3h2 prolyl 3-hydroxylase 2 [ Mus musculus (house mouse) ]

    Gene ID: 210530, updated on 30-Apr-2024

    Summary

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    Official Symbol
    P3h2provided by MGI
    Official Full Name
    prolyl 3-hydroxylase 2provided by MGI
    Primary source
    MGI:MGI:2146663
    See related
    Ensembl:ENSMUSG00000038168 AllianceGenome:MGI:2146663
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mlat4; Leprel1; 4832416N06
    Summary
    Predicted to enable procollagen-proline 3-dioxygenase activity. Predicted to be involved in collagen metabolic process; negative regulation of cell population proliferation; and peptidyl-proline hydroxylation. Located in basement membrane. Is expressed in several structures, including central nervous system; limb bud; renal cortex; sensory organ; and skeleton. Orthologous to human P3H2 (prolyl 3-hydroxylase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in kidney adult (RPKM 21.3), ovary adult (RPKM 6.6) and 12 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    16 B1; 16 17.63 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (25778034..25924563, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (25959284..26105813, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene UPF0568 protein C14orf166 homolog Neighboring gene predicted gene, 24928 Neighboring gene transformation related protein 63 Neighboring gene C15 enhancer in intron of tumor protein p63 gene Neighboring gene STARR-seq mESC enhancer starr_40480 Neighboring gene STARR-seq mESC enhancer starr_40481 Neighboring gene DeltaNp63 promoter of tumor protein p63 Neighboring gene STARR-seq mESC enhancer starr_40482 Neighboring gene C40 intronic enhancer of tumor protein p63 gene Neighboring gene predicted gene 4524 Neighboring gene VISTA enhancer mm1095 Neighboring gene VISTA enhancer mm1097 Neighboring gene expressed sequence AU015336 Neighboring gene STARR-seq mESC enhancer starr_40483 Neighboring gene STARR-seq mESC enhancer starr_40484 Neighboring gene predicted gene, 41436 Neighboring gene claudin 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations. Hudson DM, et al. J Biol Chem, 2015 Mar 27. PMID 25645914, Free PMC Article
    2. Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis. Pignata P, et al. Int J Mol Sci, 2021 Apr 9. PMID 33918807, Free PMC Article
    3. Biological role of prolyl 3-hydroxylation in type IV collagen. Pokidysheva E, et al. Proc Natl Acad Sci U S A, 2014 Jan 7. PMID 24368846, Free PMC Article
    4. Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues. Vranka J, et al. Cell Struct Funct, 2009. PMID 19652424
    5. A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens. Fernandes RJ, et al. J Biol Chem, 2011 Sep 2. PMID 21757687, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.
      Title: Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.
    2. Altered collagen prolyl 3-hydroxylation is caused by loss of P3H2.
      Title: Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.
    3. prolyl 3-hydroxylation of type IV collagen by P3H2 has an important function preventing maternal platelet aggregation in response to the early developing embryo
      Title: Biological role of prolyl 3-hydroxylation in type IV collagen.
    4. This report characterizes expression of the P3H1, P3H2 and P3H3 genes in embryonic and adult mice.
      Title: Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues.
    5. Study found that all 3 mouse Leprecan genes Lepre1, leprel1 and leprel2 are expressed in the notochord; additionally, they are expressed in dorsal root ganglia, limb buds, branchial arches, and developing kidneys.
      Title: Conservation of notochord gene expression across chordates: insights from the Leprecan gene family.
    6. P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens. It is thus possible that P3H2 mutations may lead to a disease with changes in basement membranes.
      Title: Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables procollagen-proline 3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables procollagen-proline 3-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables procollagen-proline 3-dioxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in collagen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in collagen metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in collagen metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in peptidyl-proline hydroxylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in peptidyl-proline hydroxylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    prolyl 3-hydroxylase 2
    Names
    leprecan-like protein 1
    myxoid liposarcoma associated protein 4
    NP_775555.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_173379.3 → NP_775555.1  prolyl 3-hydroxylase 2 precursor

      See identical proteins and their annotated locations for NP_775555.1

      Status: VALIDATED

      Source sequence(s)
      AC109213, AC154344
      Consensus CDS
      CCDS28086.1
      UniProtKB/Swiss-Prot
      Q8C673, Q8CG71
      Related
      ENSMUSP00000038056.6, ENSMUST00000039990.6
      Conserved Domains (3) summary
      smart00702
      Location:467 → 665
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      cl19878
      Location:26 → 144
      DUF2207; Predicted membrane protein (DUF2207)
      cl21750
      Location:306 → 339
      Fis1; Mitochondrial Fission Protein Fis1, cytosolic domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      25778034..25924563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CG71.1 GenPept UniProtKB/Swiss-Prot:Q8CG71

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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