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    Phex phosphate regulating endopeptidase homolog, X-linked [ Mus musculus (house mouse) ]

    Gene ID: 18675, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Phexprovided by MGI
    Official Full Name
    phosphate regulating endopeptidase homolog, X-linkedprovided by MGI
    Primary source
    MGI:MGI:107489
    See related
    Ensembl:ENSMUSG00000057457 AllianceGenome:MGI:107489
    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
    Gy; Hyp; PEX; HPDR; HPDR1
    Summary
    Predicted to enable metalloendopeptidase activity. Acts upstream of or within bone mineralization; odontogenesis; and organophosphate metabolic process. Located in Golgi apparatus; endoplasmic reticulum; and perinuclear region of cytoplasm. Is expressed in several structures, including chondrocranium; epidermis; limb; liver; and tooth. Used to study X-linked dominant hypophosphatemic rickets and otitis media. Human ortholog(s) of this gene implicated in X-linked dominant hypophosphatemic rickets. Orthologous to human PHEX (phosphate regulating endopeptidase X-linked). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 1.5), CNS E18 (RPKM 0.2) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Phex in Genome Data Viewer
    Location:
    X F4; X 72.38 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (155945071..156198282, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (157162075..157415286, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 57682 Neighboring gene STARR-seq mESC enhancer starr_48147 Neighboring gene STARR-seq mESC enhancer starr_48148 Neighboring gene succinate-Coenzyme A ligase, GDP-forming, beta subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_48149 Neighboring gene predicted gene, 54064 Neighboring gene predicted gene, 52451 Neighboring gene STARR-seq mESC enhancer starr_48151 Neighboring gene predicted gene, 25795 Neighboring gene aldolase B, fructose-bisphosphate pseudogene Neighboring gene predicted gene, 24281 Neighboring gene STARR-seq mESC enhancer starr_48152 Neighboring gene spermine synthase

    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 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. Hexa-D-arginine treatment increases 7B2•PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype. Yuan B, et al. J Bone Miner Res, 2013 Jan. PMID 22886699, Free PMC Article
    2. ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate. David V, et al. Am J Physiol Renal Physiol, 2011 Mar. PMID 21177780, Free PMC Article
    3. Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the Hyp mouse. Lajeunesse D, et al. Kidney Int, 1996 Nov. PMID 8914019
    4. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Du L, et al. Genomics, 1996 Aug 15. PMID 8812412
    5. Comparison of 22-oxacalcitriol and 1,25(OH)2D3 on bone metabolism in young X-linked hypophosphatemic male mice. Halstead LR, et al. Am J Physiol, 1996 Jan. PMID 8772486

    See all (237) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
      Title: Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
    2. PHEX(L222P) Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.
      Title: PHEX(L222P) Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.
    3. Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
      Title: Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
    4. Osteocytes but not osteoblasts directly build mineralized bone structures.
      Title: Osteocytes but not osteoblasts directly build mineralized bone structures.
    5. the phex mutation may create the lower set point for extracellular phosphate concentrations in a murine model of X-linked hypophosphatemia
      Title: Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.
    6. Hyp/Lrp6 double mutants developed the same reduced bone mineralization,hypophosphatemia & high FGF23 levels as Hyp(-) mice, showing that WNT signaling does not affect the FGF23-induced phosphate wasting.
      Title: FGF23-induced hypophosphatemia persists in Hyp mice deficient in the WNT coreceptor Lrp6.
    7. demonstrates a previously unknown impact of retinol on the cell-autonomous mineralization defect of Phex-deficient osteoblasts
      Title: Retinol deprivation partially rescues the skeletal mineralization defects of Phex-deficient Hyp mice.
    8. results identify full-length OPN as novel, physiologically relevant substrates for PHEX, suggesting accumulation of mineralization-inhibiting OPN fragments may contribute to the mineralization defect seen in the osteomalacic bone characteristic of XLH/HYP
      Title: Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia.
    9. Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media.
      Title: Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media.
    10. These data suggest that Phex mutations alter the responsiveness of bone cells to extracellular phosphate concentrations and may create a lower set point for "normal" phosphate levels.
      Title: A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to parathyroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within odontogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within organophosphate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to sodium phosphate IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphate-regulating neutral endopeptidase PHEX
    Names
    Metalloendopeptidase homolog PEX (Phosphate regulating neutral endopeptidase) (X-linked hypophosphatemia protein) (HYP) (Vitamin D-resistant hypophosphatemic rickets protein)
    X-linked hypophosphatemia protein
    X-linked phosphate regulating endopeptidase
    phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
    phosphate regulating neutral endopeptidase
    vitamin D-resistant hypophosphatemic rickets protein

    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_011077.2 → NP_035207.1  phosphate-regulating neutral endopeptidase PHEX

      See identical proteins and their annotated locations for NP_035207.1

      Status: VALIDATED

      Source sequence(s)
      AK158481, CT572987, U49908
      Consensus CDS
      CCDS30497.1
      UniProtKB/Swiss-Prot
      P70669, P97439
      UniProtKB/TrEMBL
      A2ICR0, Q3TYM9
      Related
      ENSMUSP00000078863.5, ENSMUST00000079945.11
      Conserved Domains (2) summary
      cd08662
      Location:74 → 747
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:67 → 741
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      155945071..156198282 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P70669.1 GenPept UniProtKB/Swiss-Prot:P70669

    Gene LinkOut

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

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