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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 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in placenta adult (RPKM 35.4), limb E14.5 (RPKM 26.5) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001136076.2NP_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:348519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:28157
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    2. NM_011031.2NP_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:348521
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:28157
      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_006532452.2XP_006532515.1  prolyl 4-hydroxylase subunit alpha-2 isoform X1

      UniProtKB/Swiss-Prot
      Q60716, Q8VBU4
      Conserved Domains (2) summary
      smart00702
      Location:348541
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:28157
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region