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

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

    Summary

    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
    NEW
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    Genomic context

    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

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_011077.2NP_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:74747
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:67741
      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)