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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 5-Mar-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, Apr 2022]
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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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. 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
  3. 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
  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. Superoxide-induced Type I collagen secretion depends on prolyl 4-hydroxylases. Shi R, et al. Biochem Biophys Res Commun, 2020 Sep 3. PMID 32819558, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Superoxide-induced Type I collagen secretion depends on prolyl 4-hydroxylases.
    Title: Superoxide-induced Type I collagen secretion depends on prolyl 4-hydroxylases.
  3. 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.
  4. 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.
  5. 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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

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 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
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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

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