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FLASH GENE
Symbol PHEX contributors: mct/npt - updated : 24-02-2015
HGNC name phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets)
HGNC id 8918
Corresponding disease
HYP1 hypophosphatemic, rickets, dominant
Location Xp22.11      Physical location : 22.050.920 - 22.266.476
Synonym name
  • phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
  • metalloendopeptidase homolog PEX
  • vitamin D-resistant hypophosphatemic rickets protein
  • X-linked phosphate regulating endopeptidase homolog
  • Synonym symbol(s) HPDR1, HYP, PEX, PEK, HYP1, XLH
    EC.number 3.4.24.-
    DNA
    TYPE functioning gene
    STRUCTURE 215.56 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase SH3KBP1 Xp22.3-p11.3 SH3-domain kinase binding protein 1 LOC256643 Xp22.13 hypothetical protein LOC256643 FLJ14503  hypothetical protein FLJ14503 EIF1A Xp22.1 eukaryotic translation initiation factor 1A RPS6KA3 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 CNK2 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 FLJ34960 Xp22.13 hypothetical protein FLJ34960 SMPX Xp22.1 small muscle protein, X-linked MBTPS2 Xp22.1-p22.2 membrane-bound transcription factor protease, site 2 SMS Xp22.1 spermine synthase PHEX Xp22.2-p22.1 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) FLJ25735 Xp22.13 hypothetical protein FLJ25735 LOC389841 X LOC389841 DDX53 Xp22 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 MGC45134 Xp22.13 hypothetical protein MGC45134 LOC392432 X similar to hypothetical protein MGC35083 FLJ30296 Xp22.13 hypothetical protein FLJ30296 PRDX4 Xp22.12-p21.3 peroxiredoxin 4 ACATE2 Xp22.13 likely ortholog of mouse acyl-Coenzyme A thioesterase 2, mitochondrial SAT Xp22.1 spermidine/spermine N1-acetyltransferase MGC4825 Xp22.13 hypothetical protein MGC4825 LOC317771 Xp22.1 ribosomal protein L9 pseudogene FLJ25444 Xp22.13 hypothetical protein FLJ25444 KIAA1677 Xp22.1-p21 KIAA1677 EIF2S3 Xp22.2-p22.1 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa ZFX Xp22.13-p22.12 zinc finger protein, X-linked LOC347438 Xp22.13 similar to P38IP protein LOC170067 Xp22.13 similar to transcription factor (p38 interacting protein) LOC286513 Xp22.13 similar to 40S ribosomal protein S26 PDK3 Xp22,12 pyruvate dehydrogenase kinase, isoenzyme 3 PCYT1B Xp22.12 phosphate cytidylyltransferase 1, choline, beta isoform POLA Xp22.12 polymerase (DNA directed), alpha ARX Xp22.12 aristaless related homeobox LOC139957 Xp22.12 similar to platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa; platelet-activating factor acetylhydrolase, isoform Ib, beta subunit (30kD); Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit LOC220895 Xp22.12 similar to methyltransferase-like protein 1 isoform a; D1075-like gene product LOC389842 X similar to Ran-specific GTPase-activating protein (Ran binding protein 1) (RanBP1)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 2861 86.5 749 - Makras (2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Reproductivefemale systemovary   
     male systemprostate   
    Respiratoryrespiratory tracttrachea   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  predominantly
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveodontoblast
    Skeletonosteoblast Homo sapiens
    cell lineage osteoblasts and odontoblasts
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text liver, lymphocytes, brain, placenta, lung
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal cytoplasmic region
  • a transmembrane domain with a conserved pentapeptide zinc-binding motif (HEXXH)
  • a second zinc binding motif
  • ten cysteine residues
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Phex
    intraspecies homolog to M13 zinc metallopeptidase
    Homologene
    FAMILY
  • neutral endopeptidase family (zinc metallopeptidase)
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type II membrane protein
    basic FUNCTION
  • phosphate regulating gene on chromosome X
  • degradating FGF23, then enhancing renal phosphate transport for osteoblastic activity
  • involved in bone and dentin mineralization and renal phosphate reabsorption (glycosylation and transmembrane localization necessary to the function)
  • involved in the clearance of the phosphatonin
  • zinc endopeptidase expressed in osteoblasts and contributing to bone mineralization
  • PHEX and DMP1 control a common pathway regulating bone mineralization and FGF23 production, the latter involving activation of the FGFR signaling in osteocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS ossification
    text involved in bone and dentin mineralization and renal phosphate reabsorption
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    repressed by NFKB and PARP1 (NF-KB signaling and PARP1 enzymatic activity cooperatively contribute to the constitutive and inducible suppression of PHEX)
    ASSOCIATED DISORDERS
    corresponding disease(s) HYP1
    related resource PHEX Locus database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    leads to increased serum levels of FGF23, a phosphaturic hormone that induces excessive renal phosphate excretion and severe hypophosphatemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS