PHEX Gene (Protein Coding)

Phosphate Regulating Endopeptidase Homolog X-Linked

GC0XP022032
GIFtS:
42
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.... See more...

Aliases for PHEX Gene

Aliases for PHEX Gene

  • Phosphate Regulating Endopeptidase Homolog X-Linked 2 3 5
  • PEX 2 3 4
  • 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
  • Phosphate-Regulating Neutral Endopeptidase PHEX 3 4
  • X-Linked Hypophosphatemia Protein 3 4
  • Metalloendopeptidase Homolog PEX 3 4
  • HPDR1 2 3
  • HYP1 2 3
  • HYP 3 4
  • XLH 2 3
  • Phosphate Regulating Endopeptidase Homolog, X-Linked 2
  • EC 3.4.24.- 4
  • HPDR 3
  • LXHR 3
  • PHEX 5

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
  • GC0XP022052

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. 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 Summary for PHEX Gene

  • Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:9593714, PubMed:15664000, PubMed:18162525, PubMed:18597632). Cleaves ASARM peptides between Ser and Glu or Asp residues (PubMed:18597632). Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide (PubMed:18597632). Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides (PubMed:18597632, PubMed:18162525). Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation (PubMed:12220505).

Gene Wiki entry for PHEX Gene

Additional gene information for PHEX Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHEX Gene

Genomics for PHEX Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PHEX Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ022032 Promoter/Enhancer 0.6 EPDnew Ensembl 250.7 -0.1 -124 0.8 SPI1 PHEX HSALNG0136969-002 SMS
GH0XJ022036 Enhancer 0.4 Ensembl 255.2 +1.7 1676 0.4 FEZF1 PRDM6 SP7 PHEX HSALNG0136971 CBLL2
GH0XJ022056 Enhancer 1.2 FANTOM5 Ensembl ENCODE 16.7 +27.7 27676 8.4 SP1 BCL11A NR2C1 TRIM22 IRF4 EBF1 ZNF316 NFE2 BHLHE40 BATF PHEX lnc-SMPX-4 RF00017-8218 piR-44878-069 CBLL2
GH0XJ022116 Enhancer 1 Ensembl ENCODE dbSUPER 7.9 +86.9 86863 4.8 CUX1 BHLHE40 GATA3 TCF7L2 FOXA1 IKZF1 NR2F1 NCOA3 ZNF384 FOSL2 PHEX piR-61945-526 lnc-SMPX-6 piR-33804-174 CBLL2
GH0XJ022110 Enhancer 0.5 Ensembl 12.4 +78.8 78787 0.6 PRDM1 HNF4A IKZF1 HNF1A ATF7 IKZF2 PRDM10 DPF2 GATAD2B piR-61945-526 PHEX lnc-SMPX-6 RF00017-8219 CBLL2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHEX

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

Genomic Locations for PHEX Gene

Latest Assembly
chrX:22,032,325-22,251,310
(GRCh38/hg38)
Size:
218,986 bases
Orientation:
Plus strand

Previous Assembly
chrX:22,050,443-22,269,427
(GRCh37/hg19 by Entrez Gene)
Size:
218,985 bases
Orientation:
Plus strand

chrX:22,050,559-22,269,427
(GRCh37/hg19 by Ensembl)
Size:
218,869 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for PHEX Gene

Proteins for PHEX Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

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

    Protein Symbol:
    P78562-PHEX_HUMAN
    Recommended name:
    Phosphate-regulating neutral endopeptidase PHEX
    Protein Accession:
    P78562
    Secondary Accessions:
    • O00678
    • Q13646
    • Q2M325
    • Q93032
    • Q99827

    Protein attributes for PHEX Gene

    Size:
    749 amino acids
    Molecular mass:
    86474 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with MEPE; the interaction is zinc-dependent (via ASARM motif).

neXtProt entry for PHEX Gene

Protein Expression for PHEX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 & Families for PHEX Gene

Gene Families for PHEX Gene

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

Protein Domains for PHEX Gene

InterPro:
Blocks:
  • Neprilysin metalloprotease (M13) family signature
  • Peptidase M13
ProtoNet:

Suggested Antigen Peptide Sequences for PHEX Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60923, highly similar to Phosphate-regulating neutral endopeptidase (EC3.4.24.-) (B4DWG8_HUMAN)
  • cDNA FLJ51465, highly similar to Phosphate-regulating neutral endopeptidase (EC 3.4.24.-) (B4E334_HUMAN)
  • X-linked hypophosphatemia protein (PHEX_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78562

UniProtKB/Swiss-Prot:

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

Function for PHEX Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for PHEX Gene

UniProtKB/Swiss-Prot Function:
Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:9593714, PubMed:15664000, PubMed:18162525, PubMed:18597632). Cleaves ASARM peptides between Ser and Glu or Asp residues (PubMed:18597632). Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide (PubMed:18597632). Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides (PubMed:18597632, PubMed:18162525). Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation (PubMed:12220505).
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:0004222 metalloendopeptidase activity TAS,IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding TAS 9070861
GO:0016787 hydrolase 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:
  • Phex Phex<tm1.2Mkd>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHEX

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

Cell membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
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
endoplasmic reticulum 3
golgi apparatus 3
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endosome 1
cytosol 1
lysosome 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,IBA 21873635
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

PathCards logo

SuperPathways for PHEX Gene

No Data Available

Interacting Proteins for PHEX Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000368682 P78562-PHEX_HUMAN for PHEX Gene via STRING IID

GPS-Prot Interaction Network for PHEX

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 TAS,IDA 11409890
GO:0007267 cell-cell signaling TAS 7550339
GO:0016485 protein processing IBA 21873635
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

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(8) Drugs for PHEX Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
 7440-23-5
genes like me logo Genes that share compounds with PHEX: view

Transcripts for PHEX Gene

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mRNA/cDNA for PHEX Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHEX

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

No ASD Table

Relevant External Links for PHEX Gene

GeneLoc Exon Structure for
PHEX

Expression for PHEX Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHEX Gene

mRNA expression in normal human tissues for PHEX Gene
mRNA expression by GTEx for PHEX GenemRNA expression by BioGPS 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHEX

SOURCE GeneReport for Unigene cluster for PHEX Gene:

Hs.495834

mRNA Expression by UniProt/SwissProt for PHEX Gene:

P78562-PHEX_HUMAN
Tissue specificity: Specifically expressed in ovary (PubMed:9070861). Expressed at low levels in kidney (PubMed:9070861).

Evidence on tissue expression from TISSUES for PHEX Gene

  • Nervous system(4.8)
  • Bone(4.5)
  • Kidney(2.7)
  • Eye(2.7)
  • Thyroid gland(2.4)
  • Intestine(2.1)
  • Liver(2.1)
  • Blood(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • pelvis
Limb:
  • 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
General:
  • blood
  • red blood cell
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PHEX: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia PHEX 30 31
  • 99.6 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PHEX 30 31
  • 92.08 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PHEX 30 31
  • 91.59 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Phex 30 17 31
  • 91.37 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Phex 30
  • 91.05 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PHEX 31
  • 90 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PHEX 31
  • 88 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PHEX 30 31
  • 76.91 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PHEX 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia phex 30
  • 69.83 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.30146 30
Zebrafish
(Danio rerio)
 Actinopterygii phex 30 31
  • 66.96 (n)
 OneToOne
wufx03e08 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6265 32
  • 43 (a)
Nep1 31
  • 30 (a)
 ManyToMany
Nep2 31 32
  • 30 (a)
 ManyToMany
CG5527 32
  • 30 (a)
CG8358 32
  • 29 (a)
Nep4 31 32
  • 25 (a)
 ManyToMany
BcDNA:GH07188 32
  • 25 (a)
CG14527 32
  • 25 (a)
CG14529 32
  • 25 (a)
CG14528 32
  • 23 (a)
CG4721 32
  • 23 (a)
CG14523 32
  • 21 (a)
Worm
(Caenorhabditis elegans)
 Secernentea T05A8.4 32
  • 33 (a)
nep-2 31
  • 32 (a)
 ManyToMany
nep-11 31
  • 30 (a)
 ManyToMany
nep-1 31
  • 29 (a)
 ManyToMany
T16A9.4 32
  • 29 (a)
C49D10.10 32
  • 23 (a)
F18A12.1 32
  • 23 (a)
K02F6.9 32
  • 23 (a)
T25B6.2 32
  • 23 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 38 (a)
 OneToMany
-- 31
  • 38 (a)
 OneToMany
-- 31
  • 37 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.276 30
Species where no ortholog for PHEX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

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

  • PHEX_HUMAN
  • B4DWG8_HUMAN
  • B4E334_HUMAN
  • F5GXU4_HUMAN
genes like me logo Genes that share paralogs with PHEX: view

Variants for PHEX Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHEX Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
438525 Pathogenic: Familial X-linked hypophosphatemic vitamin D refractory rickets 22,223,855(+) AGCATATTAGGAAGCA
NM_000444.6(PHEX):c.1899+2113_1957del 		SPLICE_ACCEPTOR
835719 Likely Pathogenic: not provided 22,219,034(+) AG/A
NM_000444.6(PHEX):c.1701-1del 		SPLICE_ACCEPTOR
837062 Uncertain Significance: not provided 22,219,103(+) GGTAA/G
NM_000444.6(PHEX):c.1768+4_1768+7del 		SPLICE_DONOR
837876 Pathogenic: not provided 22,099,014(+) G/A
NM_000444.6(PHEX):c.942G>A (p.Trp314Ter) 		NONSENSE
838024 Uncertain Significance: not provided 22,226,485(+) G/A
NM_000444.6(PHEX):c.1942G>A (p.Gly648Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PHEX Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
PHEX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHEX

SNP Genotyping and Copy Number Assays for research

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

Disorders for PHEX Gene

MalaCards: The human disease database

(41) MalaCards diseases for PHEX Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

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

UniProtKB/Swiss-Prot

PHEX_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for PHEX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. The HYP Consortium. (PMID: 7550339) (Nature genetics 1995) 2 3 4 23 74
  2. 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 23
  3. Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. (PMID: 11004247) Sato K … Fujieda K (Pediatric research 2000) 3 4 23
  4. Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. (PMID: 10737991) Tyynismaa H … Alitalo T (Human mutation 2000) 3 4 23
  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 23

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