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Aliases for PHEX Gene

Aliases for PHEX Gene

  • Phosphate Regulating Endopeptidase Homolog, X-Linked 2 3
  • HYP 3 4 6
  • Phosphate Regulating Gene With Homologies To Endopeptidases On The X Chromosome (Hypophosphatemia, Vitamin D Resistant Rickets) 2 3
  • Vitamin D-Resistant Hypophosphatemic Rickets Protein 3 4
  • X-Linked Hypophosphatemia Protein 3 4
  • Metalloendopeptidase Homolog PEX 3 4
  • HPDR1 3 6
  • LXHR 3 6
  • PEX 3 4
  • Phosphate-Regulating Neutral Endopeptidase 3
  • EC 3.4.24.- 4
  • HYP1 3
  • HPDR 3
  • XLH 3

External Ids for PHEX Gene

Previous HGNC Symbols for PHEX Gene

  • HYP
  • HPDR

Previous GeneCards Identifiers for PHEX Gene

  • GC0XP020793
  • GC0XP020641
  • GC0XP021252
  • GC0XP021412
  • GC0XP021411
  • GC0XP021810
  • GC0XP021960
  • GC0XP019791

Summaries for PHEX Gene

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 hypophosphatemic rickets, x-linked dominant and rickets. GO annotations related to this gene include metalloendopeptidase activity and aminopeptidase activity. An important paralog of this gene is MME.

UniProtKB/Swiss-Prot for PHEX Gene

  • Probably involved in bone and dentin mineralization and renal phosphate reabsorption

Gene Wiki entry for PHEX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHEX Gene

Genomics for PHEX Gene

Regulatory Elements for PHEX Gene

Genomic Location for PHEX Gene

22,032,441 bp from pter
22,251,310 bp from pter
218,870 bases
Plus strand

Genomic View for PHEX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PHEX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHEX Gene

Proteins for PHEX Gene

  • Protein details for PHEX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphate-regulating neutral endopeptidase
    Protein Accession:
    Secondary Accessions:
    • O00678
    • Q13646
    • Q2M325
    • Q93032
    • Q99827

    Protein attributes for PHEX Gene

    749 amino acids
    Molecular mass:
    86474 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available

neXtProt entry for PHEX Gene

Proteomics data for PHEX Gene at MOPED

Post-translational modifications for PHEX Gene

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

Other Protein References for PHEX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PHEX Gene

Domains for PHEX Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M13 family.
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with PHEX: view

No data available for Gene Families for PHEX Gene

Function for PHEX Gene

Molecular function for PHEX Gene

GENATLAS Biochemistry:
phosphate regulating gene on chromosome X,with homology to neutral endopeptidase family (zinc metallopeptidase)
UniProtKB/Swiss-Prot Function:
Probably involved in bone and dentin mineralization and renal phosphate reabsorption

Enzyme Numbers (IUBMB) for PHEX Gene

Gene Ontology (GO) - Molecular Function for PHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0004222 metalloendopeptidase activity IEA --
GO:0008270 zinc ion binding TAS 9070861
genes like me logo Genes that share ontologies with PHEX: view
genes like me logo Genes that share phenotypes with PHEX: view

Animal Models for PHEX Gene

MGI Knock Outs for PHEX:

Animal Model Products

miRNA for PHEX Gene

miRTarBase miRNAs that target PHEX

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PHEX

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PHEX Gene

Localization for PHEX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHEX Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

Jensen Localization Image for PHEX Gene COMPARTMENTS Subcellular localization image for PHEX gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
extracellular 2
golgi apparatus 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS 9593714
GO:0005887 integral component of plasma membrane TAS 9593714
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with PHEX: view

Pathways for PHEX Gene

SuperPathways for PHEX Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9070861
GO:0006464 cellular protein modification process TAS 7550339
GO:0006508 proteolysis IDA 11409890
GO:0007267 cell-cell signaling TAS 7550339
GO:0019637 organophosphate metabolic process IEA --
genes like me logo Genes that share ontologies with PHEX: view

No data available for Pathways by source for PHEX Gene

Drugs for PHEX Gene

(1) HMDB Compounds for PHEX Gene

Compound Synonyms Cas Number PubMed IDs
  • Sodium

(10) Novoseek inferred chemical compound relationships for PHEX Gene

Compound -log(P) Hits PubMed IDs
calcitriol 71.9 1
vitamin d 69.8 4
1,25 dihydroxy vitamin d3 48.7 3
phosphorus 26.1 1
spermine 25.1 6
genes like me logo Genes that share compounds with PHEX: view

Transcripts for PHEX Gene

mRNA/cDNA for PHEX Gene

Unigene Clusters for PHEX Gene

Phosphate regulating endopeptidase homolog, X-linked:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PHEX

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHEX Gene

No ASD Table

Relevant External Links for PHEX Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PHEX Gene

mRNA expression in normal human tissues for PHEX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHEX Gene

This gene is overexpressed in Lung (6.4) and Brain - Spinal cord (cervical c-1) (4.6).

Protein differential expression in normal tissues for PHEX Gene

This gene is overexpressed in Brain (56.5) and Vitreous humor (8.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PHEX Gene

SOURCE GeneReport for Unigene cluster for PHEX Gene Hs.495834

mRNA Expression by UniProt/SwissProt for PHEX Gene

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
genes like me logo Genes that share expressions with PHEX: view

Primer Products

In Situ Assay Products

No data available for Expression partners for PHEX Gene

Orthologs for PHEX Gene

This gene was present in the common ancestor of animals.

Orthologs for PHEX Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PHEX 35
  • 92.08 (n)
  • 94.26 (a)
  • 94 (a)
(Canis familiaris)
Mammalia PHEX 35
  • 91.59 (n)
  • 95.19 (a)
  • 95 (a)
(Mus musculus)
Mammalia Phex 35
  • 91.37 (n)
  • 95.99 (a)
Phex 16
Phex 36
  • 96 (a)
(Pan troglodytes)
Mammalia PHEX 35
  • 99.6 (n)
  • 99.47 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Phex 35
  • 91.05 (n)
  • 95.46 (a)
(Monodelphis domestica)
Mammalia PHEX 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia PHEX 36
  • 88 (a)
(Gallus gallus)
Aves PHEX 35
  • 76.91 (n)
  • 81.98 (a)
  • 82 (a)
(Anolis carolinensis)
Reptilia PHEX 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia phex 35
  • 69.83 (n)
  • 70.59 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30146 35
(Danio rerio)
Actinopterygii phex 35
  • 66.96 (n)
  • 65.86 (a)
wufx03e08 35
phex 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH07188 37
  • 25 (a)
CG14523 37
  • 21 (a)
CG14527 37
  • 25 (a)
CG14528 37
  • 23 (a)
CG14529 37
  • 25 (a)
CG4721 37
  • 23 (a)
CG5527 37
  • 30 (a)
CG6265 37
  • 43 (a)
CG8358 37
  • 29 (a)
Nep2 37
  • 33 (a)
Nep4 37
  • 34 (a)
Nep1 36
  • 30 (a)
Nep2 36
  • 30 (a)
Nep4 36
  • 25 (a)
(Caenorhabditis elegans)
Secernentea C49D10.10 37
  • 23 (a)
F18A12.1 37
  • 23 (a)
K02F6.9 37
  • 23 (a)
T05A8.4 37
  • 33 (a)
T16A9.4 37
  • 29 (a)
T25B6.2 37
  • 23 (a)
nep-1 36
  • 29 (a)
nep-11 36
  • 30 (a)
nep-2 36
  • 32 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.276 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
-- 36
  • 37 (a)
-- 36
  • 38 (a)
Species with no ortholog for PHEX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PHEX Gene

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

Paralogs for PHEX Gene

Paralogs for PHEX Gene

(5) SIMAP similar genes for PHEX Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PHEX: view

Variants for PHEX Gene

Sequence variations from dbSNP and Humsavar for PHEX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs178708 -- 22,030,885(-) TCagc(C/T)gggcg upstream-variant-2KB
rs178709 -- 22,032,628(+) TTTTC(A/C)TCCCC utr-variant-5-prime
rs178710 -- 22,032,916(+) CAAGA(A/G)AGCCT utr-variant-5-prime
rs178711 -- 22,034,074(+) TTCCA(C/T)GCTTT intron-variant
rs178712 -- 22,035,253(+) GCTTC(C/T)GAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHEX Gene

Variant ID Type Subtype PubMed ID
nsv521384 CNV Gain 19592680
esv1450052 CNV Insertion 17803354
nsv425055 CNV Insertion 16902084

Relevant External Links for PHEX Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHEX Gene

Disorders for PHEX Gene

(1) OMIM Diseases for PHEX Gene (300550)


  • 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. {ECO:0000269 PubMed:10439971, ECO:0000269 PubMed:10737991, ECO:0000269 PubMed:11004247, ECO:0000269 PubMed:9097956, ECO:0000269 PubMed:9106524, ECO:0000269 PubMed:9199930, ECO:0000269 PubMed:9768646, ECO:0000269 PubMed:9768674}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for PHEX Gene

(16) Novoseek inferred disease relationships for PHEX Gene

Disease -log(P) Hits PubMed IDs
rickets hypophosphatemic 98.5 102
hypophosphatemic rickets, autosomal dominant 93.5 1
hypophosphatemia 93.3 20
rickets 91 24
osteomalacia 89.8 20

Relevant External Links for PHEX

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PHEX: view

No data available for Genatlas for PHEX Gene

Publications for PHEX Gene

  1. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. (PMID: 7550339) Francis F. … Meitinger T. (Nat. Genet. 1995) 2 3 4 23
  2. Expression and cloning of the human X-linked hypophosphatemia gene cDNA. (PMID: 9070861) Grieff M. … Schlessinger D. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 23
  3. Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts. (PMID: 9199999) Guo R. … Quarles L.D. (J. Bone Miner. Res. 1997) 3 4 23
  4. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. (PMID: 9106524) Holm I.A. … Kunkel L.M. (Am. J. Hum. Genet. 1997) 3 4 23
  5. Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). (PMID: 9097956) Rowe P.S.N. … O'Riordan J.L.H. (Hum. Mol. Genet. 1997) 3 4 23

Products for PHEX Gene

Sources for PHEX Gene

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