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Aliases for PHEX Gene

Aliases for PHEX Gene

  • Phosphate Regulating Endopeptidase Homolog, X-Linked 2 3 5
  • 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
  • HYP 3 4
  • PEX 3 4
  • EC 3.4.24.- 4
  • HPDR1 3
  • HYP1 3
  • LXHR 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 MMEL1.

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

Enhancers for PHEX Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PHEX on UCSC Golden Path with GeneCards custom track

Genomic Location for PHEX Gene

22,032,327 bp from pter
22,251,310 bp from pter
218,984 bases
Plus strand

Genomic View for PHEX Gene

Genes around PHEX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHEX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Asn 71, Asn 238, Asn 263, Asn 290, Asn 301, Asn 377, Asn 484, and Asn 736
  • 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 & Families 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 --
genes like me logo Genes that share ontologies with PHEX: view
genes like me logo Genes that share phenotypes with PHEX: view

Human Phenotype Ontology for PHEX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PHEX Gene

MGI Knock Outs for PHEX:

Animal Model 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 5
endoplasmic reticulum 3
golgi apparatus 3
cytosol 2
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for PHEX Gene

Pathways & Interactions for PHEX Gene

SuperPathways for PHEX Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007267 cell-cell signaling TAS 7550339
GO:0030282 bone mineralization IEA --
genes like me logo Genes that share ontologies with PHEX: view

No data available for Pathways by source and SIGNOR curated interactions for PHEX Gene

Drugs & Compounds for PHEX Gene

(7) Drugs for PHEX Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PHEX Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Sodium
  • Sodium ion
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:

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 (x6.4) and Brain - Spinal cord (cervical c-1) (x4.6).

Protein differential expression in normal tissues from HIPED for PHEX Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PHEX: view

Primer Products

No data available for Protein tissue co-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
VAR_006738 Hypophosphatemic rickets, X-linked dominant (XLHR)
VAR_006739 Hypophosphatemic rickets, X-linked dominant (XLHR)
VAR_006740 Hypophosphatemic rickets, X-linked dominant (XLHR)
VAR_006741 Hypophosphatemic rickets, X-linked dominant (XLHR)
VAR_006742 Hypophosphatemic rickets, X-linked dominant (XLHR)

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

Variation tolerance for PHEX Gene

Residual Variation Intolerance Score: 8.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHEX Gene

Human Gene Mutation Database (HGMD)

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

Disorders for PHEX Gene

MalaCards: The human disease database

(24) MalaCards diseases for PHEX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypophosphatemic rickets, x-linked dominant
  • x-linked hypophosphatemia
  • active rickets
hypophosphatemic rickets
  • hypophosphatemic rickets disorders
x-linked hypophosphatemic rickets
  • hypophosphatemic rickets, x-linked dominant
- elite association - COSMIC cancer census association via MalaCards
Search PHEX in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for PHEX

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PHEX: view

No data available for Genatlas for PHEX Gene

Publications for PHEX Gene

  1. 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 67
  2. 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 23
  3. Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage. (PMID: 19775205) Addison W.N. … McKee M.D. (J. Bone Miner. Res. 2010) 3 23
  4. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. (PMID: 19219621) Gaucher C. … Jehan F. (Hum. Genet. 2009) 3 23
  5. A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. (PMID: 19429806) Kim J. … Lee K.A. (Ann. Clin. Lab. Sci. 2009) 3 23

Products for PHEX Gene

Sources for PHEX Gene