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    P4ha2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 18452, updated on 27-Nov-2024

    Summary

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    Official Symbol
    P4ha2provided by MGI
    Official Full Name
    procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptideprovided by MGI
    Primary source
    MGI:MGI:894286
    See related
    Ensembl:ENSMUSG00000018906 AllianceGenome:MGI:894286
    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
    P4hl
    Summary
    Enables procollagen-proline 4-dioxygenase activity. Acts upstream of or within peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Part of procollagen-proline 4-dioxygenase complex. Is expressed in alimentary system; pectoral girdle and thoracic body wall musculature; and skeleton. Human ortholog(s) of this gene implicated in myopia. Orthologous to human P4HA2 (prolyl 4-hydroxylase subunit alpha 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in placenta adult (RPKM 35.4), limb E14.5 (RPKM 26.5) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See P4ha2 in Genome Data Viewer
    Location:
    11 B1.3; 11 32.13 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (53991750..54022494)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (54100924..54131668)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30927 Neighboring gene solute carrier family 22 (organic cation transporter), member 4 Neighboring gene VISTA enhancer mm51 Neighboring gene PDZ and LIM domain 4 Neighboring gene STARR-positive B cell enhancer mm9_chr11:53905235-53905536 Neighboring gene STARR-positive B cell enhancer mm9_chr11:53953540-53953841 Neighboring gene STARR-positive B cell enhancer ABC_E196 Neighboring gene STARR-positive B cell enhancer mm9_chr11:53969584-53969884 Neighboring gene predicted gene 12223 Neighboring gene TBCC domain containing 1 pseudogene Neighboring gene Sdccag3 pseudogene

    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. P4HA2 induces hepatic ductular reaction and biliary fibrosis in chronic cholestatic liver diseases. Zhang J, et al. Hepatology, 2023 Jul 1. PMID 36799463
    2. Collagen prolyl 4-hydroxylase isoenzymes I and II have sequence specificity towards different X-Pro-Gly triplets. Salo AM, et al. Matrix Biol, 2024 Jan. PMID 38081527
    3. Proline hydroxylation in collagen supports integrin binding by two distinct mechanisms. Sipilä KH, et al. J Biol Chem, 2018 May 18. PMID 29615493, Free PMC Article
    4. Characterization of the human and mouse genes for the alpha subunit of type II prolyl 4-hydroxylase. Identification of a previously unknown alternatively spliced exon and its expression in various tissues. Nokelainen M, et al. Eur J Biochem, 2001 Oct. PMID 11606192
    5. Activation of hypoxia-inducible factor-1 via prolyl-4 hydoxylase-2 gene silencing attenuates acute inflammatory responses in postischemic myocardium. Natarajan R, et al. Am J Physiol Heart Circ Physiol, 2007 Sep. PMID 17545479

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer.
      Title: P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer.
    2. P4HA2 induces hepatic ductular reaction and biliary fibrosis in chronic cholestatic liver diseases.
      Title: P4HA2 induces hepatic ductular reaction and biliary fibrosis in chronic cholestatic liver diseases.
    3. Superoxide-induced Type I collagen secretion depends on prolyl 4-hydroxylases.
      Title: Superoxide-induced Type I collagen secretion depends on prolyl 4-hydroxylases.
    4. Impaired extracellular matrix is the primary cause of death of C-P4H-I+/-;C-P4H-II-/- growth plate chondrocytes.
      Title: Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I.
    5. C-P4H alpha(I) and alpha(II) mRNA levels were increased in hypoxic mouse chondrocytes in a manner dependent on HIF-1a.
      Title: Hypoxia-inducible factor-1 (HIF-1) but not HIF-2 is essential for hypoxic induction of collagen prolyl 4-hydroxylases in primary newborn mouse epiphyseal growth plate chondrocytes.
    6. HIF-1 activation following infusion of siRNA to P4HA2 plays a key role in modulating I/R-associated cardiac inflammatory responses.
      Title: Activation of hypoxia-inducible factor-1 via prolyl-4 hydoxylase-2 gene silencing attenuates acute inflammatory responses in postischemic myocardium.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2)  1 citation

    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 iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables procollagen-proline 4-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables procollagen-proline 4-dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables procollagen-proline 4-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    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
    		  
    part_of procollagen-proline 4-dioxygenase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    prolyl 4-hydroxylase subunit alpha-2
    Names
    4-PH alpha-2
    Prolyl 4-hydroxylase alpha IIa subunit
    procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2
    NP_001129548.1
    NP_035161.2
    XP_006532515.1

    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_001136076.2 → NP_001129548.1  prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001129548.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (1) contains an alternate internal segment, compared to isoform 2.
      Source sequence(s)
      AK145535, AL596103, AV252891
      Consensus CDS
      CCDS48797.1
      UniProtKB/Swiss-Prot
      Q60716, Q8VBU4
      UniProtKB/TrEMBL
      Q5SX74
      Related
      ENSMUSP00000091749.5, ENSMUST00000093107.12
      Conserved Domains (2) summary
      smart00702
      Location:348 → 519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:28 → 157
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    2. NM_011031.2 → NP_035161.2  prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_035161.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AK142689, AK145535, AL596103, AV252891, CD563665, U16163
      Consensus CDS
      CCDS24691.1
      UniProtKB/Swiss-Prot
      Q60716, Q8VBU4
      UniProtKB/TrEMBL
      Q5SX75
      Related
      ENSMUSP00000019050.6, ENSMUST00000019050.12
      Conserved Domains (2) summary
      smart00702
      Location:348 → 521
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:28 → 157
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      53991750..54022494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532452.2 → XP_006532515.1  prolyl 4-hydroxylase subunit alpha-2 isoform X1

      UniProtKB/Swiss-Prot
      Q60716, Q8VBU4
      Conserved Domains (2) summary
      smart00702
      Location:348 → 541
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:28 → 157
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q60716.1 GenPept UniProtKB/Swiss-Prot:Q60716

    Gene LinkOut

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

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