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PHEX Gene

protein-coding   GIFtS: 61
GCID: GC0XP022052

Phosphate Regulating Endopeptidase Homolog, X-Linked

(Previous names: phosphate regulating gene with homologies to endopeptidases...)
(Previous symbols: HYP, HPDR)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphate Regulating Endopeptidase Homolog, X-Linked1 2     X-Linked Hypophosphatemia Protein2 3
HYP1 2 3 5     HPDR12 5
HPDR1 2     LXHR2 5
Phosphate Regulating Gene With Homologies To Endopeptidases On The X
Chromosome (Hypophosphatemia, Vitamin D Resistant Rickets)1 2
     HYP12
Metalloendopeptidase Homolog PEX2 3     XLH2
Vitamin D-Resistant Hypophosphatemic Rickets Protein2 3     Phosphate-Regulating Neutral Endopeptidase2
PEX2 3     EC 3.4.24.-3

External Ids:    HGNC: 89181   Entrez Gene: 52512   Ensembl: ENSG000001021747   OMIM: 3005505   UniProtKB: P785623   

Export aliases for PHEX gene to outside databases

Previous GC identifers: GC0XP020793 GC0XP020641 GC0XP021252 GC0XP021412 GC0XP021411 GC0XP021810 GC0XP021960 GC0XP019791


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHEX Gene:
The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane
zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and
renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for PHEX Gene:
PHEX (phosphate regulating endopeptidase homolog, X-linked) is a protein-coding gene. Diseases associated with PHEX include hypophosphatemia, and rickets. GO annotations related to this gene include aminopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is MME.

UniProtKB/Swiss-Prot: PHEX_HUMAN, P78562
Function: Probably involved in bone and dentin mineralization and renal phosphate reabsorption

Gene Wiki entry for PHEX Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHEX gene promoter:
         HFH-3   FOXF2   p53   FOXL1   FOXI1   PPAR-gamma1   POU2F1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHEX promoter sequence
   Search Chromatin IP Primers for PHEX

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHEX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.2-p22.1   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22.2-p22.1

PHEX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHEX gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP022052:  view genomic region     (about GC identifiers)

Start:
22,050,559 bp from pter      End:
22,269,427 bp from pter
Size:
218,869 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PHEX_HUMAN, P78562 (See protein sequence)
Recommended Name: Phosphate-regulating neutral endopeptidase  
Size: 749 amino acids; 86474 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Secondary accessions: O00678 Q13646 Q2M325 Q93032 Q99827

Explore the universe of human proteins at neXtProt for PHEX: NX_P78562

Explore proteomics data for PHEX at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn71, Asn238, Asn263, Asn290, Asn301, Asn377, Asn484, Asn736
  • Modification sites at PhosphoSitePlus

  • See PHEX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000435.3  NP_001269683.1  

    ENSEMBL proteins: 
     ENSP00000368682   ENSP00000440362   ENSP00000439418   ENSP00000443531  

    PHEX Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PHEX
    GenScript Custom Purified and Recombinant Proteins Services for PHEX
    Novus Biologicals PHEX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PHEX

    PHEX Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    OriGene Custom Antibody Services for PHEX
    Novus Biologicals PHEX Antibodies
    Search for Antibodies for PHEX at Abcam
    Cloud-Clone Corp. Antibodies for PHEX
    ThermoFisher Antibodies for PHEX
    LSBio Antibodies in human, mouse, rat for PHEX

    PHEX Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PHEX
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PHEX
    Cloud-Clone Corp. CLIAs for PHEX


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR015603 PHEX
     IPR024079 MetalloPept_cat_dom
     IPR000718 Peptidase_M13
     IPR018497 Peptidase_M13_C
     IPR008753 Peptidase_M13_N

    Graphical View of Domain Structure for InterPro Entry P78562

    ProtoNet protein and cluster: P78562

    2 Blocks protein domains:
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


    UniProtKB/Swiss-Prot: PHEX_HUMAN, P78562
    Similarity: Belongs to the peptidase M13 family


    PHEX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHEX_HUMAN, P78562
    Function: Probably involved in bone and dentin mineralization and renal phosphate reabsorption

         Genatlas biochemistry entry for PHEX:
    phosphate regulating gene on chromosome X,with homology to neutral endopeptidase family (zinc metallopeptidase)

         Enzyme Number (IUBMB): EC 3.4.24.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IEA--
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008270zinc ion binding TAS9070861
         
    PHEX for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PHEX:
     Decreased Wnt reporter activit  Increased circadian period len 

         Selected MGI mutant phenotypes (inferred from 11 alleles(MGI details for Phex) (see all 17):
     adipose tissue  behavior/neurological  cellular  craniofacial  digestive/alimentary 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  muscle  nervous system  other 

    PHEX for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Phextm1.2Mkd for PHEX

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHEX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PHEX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHEX
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PHEX

    miRNA
    Products:
        
    miRTarBase miRNAs that target PHEX:
    hsa-mir-16-5p (MIRT051061)

    Block miRNA regulation of human, mouse, rat PHEX using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PHEX
    SwitchGear 3'UTR luciferase reporter plasmidPHEX 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PHEX
    Predesigned siRNA for gene silencing in human, mouse, rat PHEX

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PHEX

    Clone
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    OriGene clones in human, mouse for PHEX (see all 7)
    OriGene ORF clones in mouse, rat for PHEX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PHEX (NM_000444)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHEX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHEX

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PHEX 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHEX


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PHEX_HUMAN, P78562: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum2
    extracellular2
    golgi apparatus2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane TAS9593714
    GO:0005887integral component of plasma membrane TAS9593714
    GO:0048471perinuclear region of cytoplasm IEA--

    PHEX for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including PHEX: 
              Osteogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PHEX

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for PHEX (P785623 ENSP000003686824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGF23Q9GZV93, ENSP000002378374I2D: score=1 STRING: ENSP00000237837
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9070861
    GO:0006464cellular protein modification process TAS7550339
    GO:0006508proteolysis IDA11409890
    GO:0007267cell-cell signaling TAS7550339
    GO:0019637organophosphate metabolic process IEA--

    PHEX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHEX

    1 HMDB Compound for PHEX    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    10 Novoseek inferred chemical compound relationships for PHEX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcitriol 71.9 1 11064151 (1)
    vitamin d 69.8 4 10439207 (1), 17630616 (1), 19122271 (1), 18701809 (1)
    1,25 dihydroxy vitamin d3 48.7 3 14693675 (2), 14564066 (1)
    phosphorus 26.1 1 20059333 (1)
    spermine 25.1 8 9545633 (3), 9299240 (2), 9467015 (1)
    calcium 9.12 1 14514346 (1)
    zinc 4.23 7 12678920 (1), 12727977 (1), 18585473 (1), 9070861 (1)
    proline 0 1 9768646 (1)
    leucine 0 1 9768646 (1)
    aspartate 0 3 12678920 (2)



    PHEX for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PHEX gene (2 alternative transcripts): 
    NM_000444.5  NM_001282754.1  

    Unigene Cluster for PHEX:

    Phosphate regulating endopeptidase homolog, X-linked
    Hs.495834  [show with all ESTs]
    Unigene Representative Sequence: U82970
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379374(uc004dah.3 uc011mjr.2) ENST00000475778 ENST00000537599
    ENST00000535894(uc011mjs.2) ENST00000418858
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PHEX using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PHEX
    SwitchGear 3'UTR luciferase reporter plasmidPHEX 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PHEX
    Predesigned siRNA for gene silencing in human, mouse, rat PHEX
    Clone
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    OriGene clones in human, mouse for PHEX (see all 7)
    OriGene ORF clones in mouse, rat for PHEX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PHEX (NM_000444)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHEX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHEX
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PHEX
    OriGene qSTAR qPCR primer pairs in human, mouse for PHEX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHEX
      QuantiTect SYBR Green Assays in human, mouse, rat PHEX
      QuantiFast Probe-based Assays in human, mouse, rat PHEX

    Additional mRNA sequence: 

    AD000712.1 AK298030.1 AK301528.1 AK304551.1 BC105057.1 BC105059.1 U60475.1 U75645.1 
    U82970.1 U87284.1 

    3 DOTS entries:

    DT.210557  DT.121324381  DT.40254739 

    22 AceView cDNA sequences:

    AD000712 BU187445 BU680665 BG190832 U75645 BX106640 BQ013134 U87284 
    BQ000741 NM_000444 U60475 U82970 BE676292 AA461370 BE408518 AA507613 
    BE465976 AA493460 BE503278 AW971002 H55270 CF597475 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PHEX expression in normal human tissues (normalized intensities)      PHEX embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTCCTGCC
    PHEX Expression
    About this image


    PHEX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Endochondral Facial Bones
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    PHEX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHEX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495834

    UniProtKB/Swiss-Prot: PHEX_HUMAN, P78562
    Tissue specificity: Lymphocytes and fetal brain; not in adult brain, placenta, skeletal muscle and pancreas; not
    in adult and fetal heart, lung, liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including PHEX: 
              Osteogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PHEX
    OriGene qSTAR qPCR primer pairs in human, mouse for PHEX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHEX
    QuantiTect SYBR Green Assays in human, mouse, rat PHEX
    QuantiFast Probe-based Assays in human, mouse, rat PHEX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHEX

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PHEX gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phex1 , 5 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) less1, 5 91.37(n)1
    95.99(a)1
      X (72.38 cM)5
    186751  NM_011077.21  NP_035207.11 
     1571620755 
    chicken
    (Gallus gallus)
    Aves PHEX1 phosphate regulating endopeptidase homolog, X-linked less 76.91(n)
    81.98(a)
      395777  NM_001199277.1  NP_001186206.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHEX6
    phosphate regulating endopeptidase homolog, X-link...
    80(a)
    1 ↔ 1
    3(124663703-124811917)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.301462 Xenopus laevis transcribed sequence with weak similarity to protein refNP_000435.1 (H.sapiens) phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets); Phosphate regulating gene wi less 73.17(n)    48022079 
    zebrafish
    (Danio rerio)
    Actinopterygii wufx03e082 wufx03e08 77.79(n)   386969  BQ284274.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62653 endothelin-converting enzyme 43(a)
    (best of 11)
      97E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea T05A8.43 protease 33(a)
    (best of 6)
      II(2717612-2725538)   --


    ENSEMBL Gene Tree for PHEX (if available)
    TreeFam Gene Tree for PHEX (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHEX gene
    MME2  KEL2  ECE22  ECE12  MMEL12  ECEL12  
    5 SIMAP similar genes for PHEX using alignment to 4 protein entries:     PHEX_HUMAN (see all proteins):
    MMEL1    ECE2    MME    ECE1    ECEL1

    PHEX for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHEX (see all 3539)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0106354
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106352 A T mis40--------
    VAR_0067434
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0067432 M I mis40--------
    VAR_0106274
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106272 L P mis40--------
    VAR_0106194
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106192 S P mis40--------
    VAR_0106264
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106262 W C mis40--------
    VAR_0106304
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106302 Q R mis40--------
    VAR_0106214
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106212 L R mis40--------
    VAR_0106374
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106372 C S mis40--------
    VAR_0106384
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106382 C W mis40--------
    VAR_0106234
    Hypophosphatemic rickets, X-linked dominant (XLHR)4--see VAR_0106232 Y F mis40--------

    HapMap Linkage Disequilibrium report for PHEX (22050559 - 22269427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PHEX:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv425055CNV Insertion16902084
    esv1450052CNV Insertion17803354
    nsv521384CNV Gain19592680

    Human Gene Mutation Database (HGMD): PHEX
    Locus Specific Mutation Databases (LSDB): PHEX

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300550   
    OMIM disorders: 307800  
    UniProtKB/Swiss-Prot: PHEX_HUMAN, P78562
  • Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]: A disorder characterized by impaired
    phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate
    cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure,
    craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with
    onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an
    incidence of 1 in 20000. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PHEX (see all 38):    About MalaCards
    hypophosphatemia    rickets    x-linked hypophosphatemia    hypophosphatemic rickets, autosomal dominant
    osteomalacia    enthesopathy    oncogenic osteomalacia    hirschsprung disease, cardiac defects, and autonomic dysfunction
    autonomic dysfunction    paraneoplastic syndromes    generalized arterial calcification of infancy    arterial calcification of infancy
    endolymphatic hydrops    epidermal nevus    exfoliation syndrome    nephrocalcinosis
    hyperphosphatemia    rhizomelic chondrodysplasia punctata    thrombotic thrombocytopenic purpura    zellweger syndrome

    4 diseases from the University of Copenhagen DISEASES database for PHEX:
    X-linked hypophosphatemia     Hypophosphatemia     Rickets     Osteomalacia

    PHEX for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PHEX gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rickets hypophosphatemic 98.5 112 11502821 (4), 11502829 (4), 17906414 (3), 9768646 (3) (see all 81)
    hypophosphatemic rickets, autosomal dominant 93.5 1 15256067 (1)
    hypophosphatemia 93.3 21 10620182 (3), 10737991 (2), 8237485 (1), 12414538 (1) (see all 17)
    rickets 91 26 12414538 (2), 9097956 (2), 16841587 (2), 9497867 (1) (see all 21)
    osteomalacia 89.8 25 17906414 (3), 7900834 (2), 11595624 (2), 9497867 (1) (see all 16)
    peroxisome biogenesis disorders 73.5 2 17007945 (1)
    zellweger syndrome 55.4 1 17534573 (1)
    nephrocalcinosis 53.6 1 18775977 (1)
    growth retardation 51.2 1 9524191 (1)
    bone diseases 47.8 3 9524191 (1), 15958652 (1), 15896324 (1)

    Genetic Association Database (GAD): PHEX
    Human Genome Epidemiology (HuGE) Navigator: PHEX (3 documents)

    Export disorders for PHEX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PHEX gene, integrated from 10 sources (see all 191):
    (articles sorted by number of sources associating them with PHEX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression and cloning of the human X-linked hypophosphatemia gene cDNA. (PubMed id 9070861)1, 2, 3, 9 Grieff M.... Schlessinger D. (Biochem. Biophys. Res. Commun. 1997)
    2. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. (PubMed id 7550339)1, 2, 3, 9 Francis F.... Meitinger T. (Nat. Genet. 1995)
    3. Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice. (PubMed id 9077527)1, 2, 9 Beck L.... Tenenhouse H.S. (J. Clin. Invest. 1997)
    4. Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts. (PubMed id 9199999)1, 2, 9 Guo R. and Quarles L.D. (J. Bone Miner. Res. 1997)
    5. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. (PubMed id 9106524)1, 2, 9 Holm I.A.... Kunkel L.M. (Am. J. Hum. Genet. 1997)
    6. Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). (PubMed id 9097956)1, 2, 9 Rowe P.S.N.... O'Riordan J.L.H. (Hum. Mol. Genet. 1997)
    7. Mutational analysis of PHEX gene in X-linked hypophosphatemia. (PubMed id 9768674)1, 2, 9 Dixon P.H.... Thakker R.V. (J. Clin. Endocrinol. Metab. 1998)
    8. A PHEX gene mutation is responsible for adult-onset vitamin D- resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. (PubMed id 9768646)1, 2, 9 Econs M.J....Bergen H. (J. Clin. Endocrinol. Metab. 1998)
    9. Non-random distribution of mutations in the PHEX gene, and under- detected missense mutations at non-conserved residues. (PubMed id 10439971)1, 2, 9 Filisetti D.... Oudet C.L. (Eur. J. Hum. Genet. 1999)
    10. Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. (PubMed id 10737991)1, 2, 9 Tyynismaa H....Alitalo T. (Hum. Mutat. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5251 HGNC: 8918 AceView: PHEX Ensembl:ENSG00000102174 euGenes: HUgn5251
    ECgene: PHEX H-InvDB: PHEX

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PHEX Pharmacogenomics, SNPs, Pathways
    PHEXdbhttp://www.phexdb.mcgill.ca/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHEX[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PHEX gene:
    Search GeneIP for patents involving PHEX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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