U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 18675, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    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, Dec 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging. Karunaratne A, et al. J Bone Miner Res, 2012 Apr. PMID 22161748
    2. Aberrant cementum phenotype associated with the hypophosphatemic hyp mouse. Fong H, et al. J Periodontol, 2009 Aug. PMID 19656036, Free PMC Article
    3. Altered osteoblast gluconeogenesis in X-linked hypophosphatemic mice is associated with a depressed intracellular pH. Rifas L, et al. Calcif Tissue Int, 1995 Jul. PMID 7671167
    4. Intrinsic mineralization defect in Hyp mouse osteoblasts. Xiao ZS, et al. Am J Physiol, 1998 Oct. PMID 9755091
    5. Effect of P(i) restriction on renal Na(+)-P(i) cotransporter mRNA and immunoreactive protein in X-linked Hyp mice. Tenenhouse HS, et al. Am J Physiol, 1995 Jun. PMID 7611447

    See all (241) 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

    Go to the top of the page Help

    Alleles

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

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    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_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.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools