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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
  • Phosphate Regulating Endopeptidase Homolog, X-Linked 2
  • Phosphate-Regulating Neutral Endopeptidase 3
  • 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 Hypophosphatemic Rickets, X-Linked Recessive. Gene Ontology (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

Additional gene information for PHEX Gene

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

Genomics for PHEX Gene

GeneHancer (GH) Regulatory Elements for PHEX Gene

Promoters and enhancers for PHEX Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ022032 Promoter 0.6 EPDnew 650.7 0.0 -21 0.1 SPI1 PHEX GC0XP022008
GH0XJ022033 Promoter 0.5 EPDnew 650.7 +0.1 119 0.1 PHEX GC0XM022054
GH0XJ022059 Enhancer 1.2 FANTOM5 Ensembl ENCODE 16.7 +28.4 28375 2.9 STAT5A BMI1 BATF GATA3 NFATC1 EED ATF7 ETV6 IKZF2 RUNX3 GC0XP022060 PHEX GC0XM022054
GH0XJ022133 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +103.1 103110 3.2 CTCF PKNOX1 JUN SIN3A ZNF384 RAD21 E2F1 CTBP1 GATA3 POLR2A PHEX-AS1 PHEX GC0XP022060
GH0XJ022116 Enhancer 0.8 ENCODE dbSUPER 7.8 +85.1 85115 1.2 NCOA3 ZNF687 USF1 NR2F1 FOXA1 GATA3 JUND IKZF1 FOSL2 TCF7L2 PHEX PHEX-AS1 GC0XP022060
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHEX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHEX gene promoter:
  • p53
  • HFH-3
  • FOXF2
  • FOXL1
  • PPAR-gamma1
  • PPAR-gamma2
  • FOXI1
  • POU2F1

Genomic Locations for PHEX Gene

Genomic Locations for PHEX Gene
218,984 bases
Plus strand
218,869 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

Post-translational modifications for PHEX Gene

  • Glycosylation at isoforms=736, Asn484, Asn377, Asn301, Asn290, Asn263, Asn238, and Asn71
  • Modification sites at PhosphoSitePlus

Other Protein References for PHEX Gene

No data available for DME Specific Peptides for PHEX Gene

Domains & Families for PHEX Gene

Gene Families for PHEX Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

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

Function for PHEX Gene

Molecular function for PHEX Gene

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

Enzyme Numbers (IUBMB) for PHEX Gene

Phenotypes From GWAS Catalog 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 TAS,IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase 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

Human Phenotype Ontology for PHEX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PHEX Gene

MGI Knock Outs for PHEX:
  • Phex Phex<tm1.2Mkd>

Animal Model Products

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHEX gene
Compartment Confidence
plasma membrane 5
extracellular 3
peroxisome 3
endoplasmic reticulum 3
golgi apparatus 3
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 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:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PHEX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PHEX Gene

Pathways & Interactions for PHEX Gene

No Data Available

Interacting Proteins for PHEX Gene

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,TAS 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 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: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Na(+)
  • Na+
  • 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for PHEX Gene

NURSA nuclear receptor signaling pathways regulating expression of PHEX Gene:


SOURCE GeneReport for Unigene cluster for PHEX Gene:


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.

Evidence on tissue expression from TISSUES for PHEX Gene

  • Nervous system(4.8)
  • Bone(4.5)
  • Eye(3.5)
  • Kidney(2.6)
  • Blood(2.5)
  • Lung(2.5)
  • Liver(2.3)
  • Heart(2.1)
  • Muscle(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHEX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
  • biliary tract
  • kidney
  • liver
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • red blood cell
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PHEX: view

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
(Pan troglodytes)
Mammalia PHEX 34 33
  • 99.6 (n)
(Bos Taurus)
Mammalia PHEX 34 33
  • 92.08 (n)
(Canis familiaris)
Mammalia PHEX 34 33
  • 91.59 (n)
(Mus musculus)
Mammalia Phex 16 34 33
  • 91.37 (n)
(Rattus norvegicus)
Mammalia Phex 33
  • 91.05 (n)
(Monodelphis domestica)
Mammalia PHEX 34
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia PHEX 34
  • 88 (a)
(Gallus gallus)
Aves PHEX 34 33
  • 76.91 (n)
(Anolis carolinensis)
Reptilia PHEX 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia phex 33
  • 69.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30146 33
(Danio rerio)
Actinopterygii phex 34 33
  • 66.96 (n)
wufx03e08 33
fruit fly
(Drosophila melanogaster)
Insecta CG6265 35
  • 43 (a)
Nep1 34
  • 30 (a)
Nep2 34 35
  • 30 (a)
CG5527 35
  • 30 (a)
CG8358 35
  • 29 (a)
Nep4 34 35
  • 25 (a)
CG14529 35
  • 25 (a)
CG14527 35
  • 25 (a)
BcDNA:GH07188 35
  • 25 (a)
CG14528 35
  • 23 (a)
CG4721 35
  • 23 (a)
CG14523 35
  • 21 (a)
(Caenorhabditis elegans)
Secernentea T05A8.4 35
  • 33 (a)
nep-2 34
  • 32 (a)
nep-11 34
  • 30 (a)
nep-1 34
  • 29 (a)
T16A9.4 35
  • 29 (a)
F18A12.1 35
  • 23 (a)
K02F6.9 35
  • 23 (a)
T25B6.2 35
  • 23 (a)
C49D10.10 35
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
-- 34
  • 38 (a)
-- 34
  • 37 (a)
Cin.276 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.276 33
Species where no ortholog for PHEX was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for PHEX: view image

Paralogs for PHEX Gene

Paralogs for PHEX Gene

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

  • B4E334_HUMAN
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 Variation AA Info Type
rs1012718966 uncertain-significance, Familial X-linked hypophosphatemic vitamin D refractory rickets 22,248,313(+) A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1057515841 uncertain-significance, Familial X-linked hypophosphatemic vitamin D refractory rickets 22,032,996(+) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1057515842 uncertain-significance, Familial X-linked hypophosphatemic vitamin D refractory rickets 22,047,147(+) C/G coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1057515843 uncertain-significance, Familial X-linked hypophosphatemic vitamin D refractory rickets 22,090,465(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057515844 uncertain-significance, Familial X-linked hypophosphatemic vitamin D refractory rickets 22,248,203(+) A/C 3_prime_UTR_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv1450052 CNV insertion 17803354
nsv425055 CNV insertion 16902084
nsv521384 CNV gain 19592680

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)

Additional Variant Information for PHEX Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for PHEX Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypophosphatemic rickets, x-linked dominant
  • xlhr
hypophosphatemic rickets, x-linked recessive
  • hypophosphatemic rickets
  • active rickets
  • rheumatic diseases
- 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.

Additional Disease Information for PHEX

Genetic Association Database
Human Genome Epidemiology 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 (Biochemical and biophysical research communications 1997) 2 3 4 22 58
  2. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. (PMID: 7550339) (Nature genetics 1995) 2 3 4 22 58
  3. Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. (PMID: 10737991) Tyynismaa H … Alitalo T (Human mutation 2000) 3 4 22 58
  4. Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. (PMID: 11004247) Sato K … Fujieda K (Pediatric research 2000) 3 4 22 58
  5. Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. (PMID: 10439971) Filisetti D … Oudet C (European journal of human genetics : EJHG 1999) 3 4 22 58

Products for PHEX Gene

Sources for PHEX Gene

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