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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PHEX Gene

protein-coding   GIFtS: 57
GCID: GC0XP021960

phosphate regulating endopeptidase homolog, X-linked

(Previous names: phosphate regulating gene with homologies to endopeptidases...)
(Previous symbols: HYP, HPDR)
 Explore 39 diseases affiliated with
PHEX via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PHEX    

Aliases
for PHEX gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phosphate Regulating Endopeptidase Homolog, X-Linked1 2     Phosphate Regulating Gene With Homologies To Endopeptidases On The X Chromosome
(Hypophosphatemia, Vitamin D Resistant Rickets)1 2
HYP1 2 3 5     Metalloendopeptidase Homolog PEX2 3
PEX1 2 3     Vitamin D-Resistant Hypophosphatemic Rickets Protein2 3
HPDR11 2 5     X-Linked Hypophosphatemia Protein2 3
HPDR1 2     LXHR2 5
HYP11 2     Phosphate-Regulating Neutral Endopeptidase2
XLH1 2     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 GC0XP019791


Summaries
for PHEX gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PHEX:
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. (provided by RefSeq, Jul 2008)

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

Gene Wiki entry for PHEX


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences 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 plasmid: PHEX promoter sequence
   Search SABiosciences Chromatin IP Primers for PHEX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC0XP021960:  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

Proteins
for PHEX gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
Secondary accessions: O00678 Q13646 Q2M325 Q93032 Q99827

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P78562

    • PHEX Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000435.3  
    ENSEMBL proteins: 
     ENSP00000368682   ENSP00000440362   ENSP00000439418   ENSP00000443531  

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    Novus Biologicals PHEX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PHEX

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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


    PHEX for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PHEX

    Protein Domains /
    Families
    for PHEX gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PHEX for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


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


    Function
    for PHEX gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHEX
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PHEX
    SwitchGear 3'UTR luciferase reporter plasmid: PHEX 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHEX (see all 7)
    OriGene shRNA RFP: PHEX
    OriGene siRNA: PHEX
    QIAGEN FlexiTube/FlexiPlate 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 Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHEX (see all 3)
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHEX 

    Cell Line
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    Search LifeMap BioReagents cell lines for PHEX

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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


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

    Animal Models:
         Mouse knock-out Phextm1.2Mkd for PHEX
         15/16 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Phex) (see all 16):
     adipose tissue  behavior/neurological  cellular  craniofacial  digestive/alimentary 
     growth/size  hearing/vestibular/ear  homeostasis/metabolism  immune system  limbs/digits/tail 
     mortality/aging  muscle  nervous system  other  renal/urinary system 

    PHEX for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PHEX gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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



    Drugs & Compounds
    for PHEX gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PHEX for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about PHEX 

    Transcripts
    for PHEX gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PHEX gene: 
    NM_000444.4  

    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

    miRNA
    Products:             		 OriGene 3'-UTR Clone: PHEX
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHEX
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PHEX
    SwitchGear 3'UTR luciferase reporter plasmid: PHEX 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHEX (see all 7)
    OriGene shRNA RFP: PHEX
    OriGene siRNA: PHEX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHEX
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHEX
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    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 genome-wide validated SYBR primer pairs in human, mouse, rat for PHEX
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PHEX
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHEX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHEX

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

    GeneLoc Exon Structure


    Expression
    for PHEX gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PHEX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTCCTGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PHEX expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    BoneEndochondral Facial BonesBone
    BoneMandibular FossaBone
    BoneZeugopod PeriosteumBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)

    See PHEX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHEX

    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

        SABiosciences Expression via Pathway-Focused PCR Array including PHEX: 
              Osteogenesis in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHEX

    Orthologs
    for PHEX gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PHEX gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PHEX1 phosphate regulating endopeptidase homolog, X-linked 76.91(n)
    81.98(a)    		   395777  NM_001199277.1  NP_001186206.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PHEX6
    		 --
    		 80(a)
    		 1 ↔ 1
    		 3(124664626-124810069)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.301462 Xenopus laevis transcribed sequence with weak similarity more 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
    for PHEX gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for PHEX gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3069 NCBI SNPs in PHEX are shown (see all 3069)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1998931531,2
    		C,probable-non-pathogenic22115124(+) AAATGA/CACATT 2 N H mis10--------
    rs1858914411,2
    		--22048987(+) CAGGCA/GTGAGC 1 -- us2k10--------
    rs1387535331,2
    		--22048999(+) ACTGCA/GCCCAG 1 -- us2k10--------
    rs1787081,2
    		C,H,--22049003(-) TCAGCC/TGGGCG 1 -- us2k17Minor allele frequency- T:0.00NA CSA 14
    rs1507298091,2
    		--22049015(+) GCTGGC/TTGTTA 1 -- us2k10--------
    rs1907076001,2
    		--22049335(+) TTGGCA/GCAACA 1 -- us2k10--------
    rs12995131,2
    		C,H--22049554(-) ATCTAG/TAAACC 1 -- us2k14Minor allele frequency- T:0.00NS EA 408
    rs1824730581,2
    		--22049753(+) AATCAG/TTATCA 1 -- us2k10--------
    rs1117269101,2
    		C,--22049895(+) TCTGGC/TTCACT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1911579591,2
    		--22049993(+) TAATTA/TTTGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PHEX (22050559 - 22269427 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PHEX: --
    Human Gene Mutation Database (HGMD): PHEX

    Locus Specific Mutation Databases (LSDB): PHEX

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    Disorders / Diseases
    for PHEX gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PHEX for disorders           About GeneDecksing

    OMIM gene information: 300550   
    OMIM disorders: 307800  
    UniProtKB/Swiss-Prot: PHEX_HUMAN, P78562
  • Defects in PHEX are a cause of hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]. XLHR is an
    • X-linked dominant 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

    20/39 diseases for PHEX (see all 39):    About MalaCards
    rickets    x-linked hypophosphatemia    hypophosphatemia    hypophosphatemic rickets, autosomal dominant
    peroxisomal biogenesis disorder    peroxisome biogenesis disorders    hirschsprung disease, cardiac defects, and autonomic dysfunction    rhizomelic chondrodysplasia punctata
    chondrodysplasia punctata    thrombotic thrombocytopenic purpura    oncogenic osteomalacia    autonomic dysfunction
    endolymphatic hydrops    arterial calcification of infancy    epidermal nevus    arterial calcification
    osteomalacia    zellweger syndrome    paraneoplastic syndromes    enthesopathy

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

    10/16 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PHEX (3 documents)

    Export disorders for PHEX gene to outside databases

    Publications
    for PHEX gene

    (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)
    About This Section

    PubMed articles for PHEX gene, integrated from 9 sources (see all 181):
    (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. (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. (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. (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. (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. (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. (1997)
    7. Mutational analysis of PHEX gene in X-linked hypophosphatemia. (PubMed id 9768674)1, 2, 9 Dixon P.H.... Thakker R.V. (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. (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. (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. (2000)

    External Searches for PHEX gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing PHEX gene

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

    Other Databases showing PHEX gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PHEX gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PHEX Pharmacogenomics, SNPs, Pathways
    PHEXdbhttp://www.phexdb.mcgill.ca/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHEX

    Intellectual Property
    for PHEX gene

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

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