Property Summary

NCBI Gene PubMed Count 90
PubMed Score 1694.38
PubTator Score 238.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma 1.806 3.6e-02
chronic lymphosyte leukemia 1.600 7.7e-05
posterior fossa group B ependymoma 2.500 1.9e-06
glioblastoma 1.500 2.2e-03
adult high grade glioma 1.300 1.3e-02
pilocytic astrocytoma 1.100 6.1e-03
lung carcinoma -1.400 2.3e-10
psoriasis 1.500 7.2e-52

Pathway (1)

Protein-protein Interaction (1)

Gene RIF (44)

PMID Text
26362198 Downregulation of PHEX may constitute an important early component of bone loss and joint damage in leprosy
26107949 A new splice acceptor mutation was seen in intron 9 (c.1080-3C>A) in a family with hypophosphatemic rickets. This transcript skipped exons 10-14. A sporadic case had a new exon 11 mutation (c.1211_1215delACAAAinsTTTACAT, p.Asp404Valfs*5, de novo).
26051471 This report that mutations in PHEX are the most frequent cause of hypophosphatemic rickets
25839938 A novel de novo nonsense mutation of the PHEX gene has been identified in Chinese family expanding the mutation spectrum of PHEX leading to X-linked hypophosphatemic rickets.
25042154 PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR.
24857004 exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese X-link dominate hypophosphatemic rickets (XLH) patients
24836714 Two novel mutations were detected unrelated families with hypophosphatemic rickets.
24078575 The c.732+1G>T mutation of PHEX is associated with hypophosphatasia pedigree.
23813354 15 PHEX mutations have been reported in Chinese populations with X-linked hypophosphatemic rickets
23079138 study shows that PHEX mutation is a common cause of either familial or sporadic hypophosphatemic rickets in Turkish population
22713460 PHEX gene mutations were responsible for X-linked hypophosphatemia in these Chinese families.
22695891 Mutations in PHEX and DMP1 play a role in causing hypophosphatemic rickets.
22577109 Analysis of PHEX mRNA from peripheral blood would be appropriate for the first screening step in determining the etiology of FGF23-related hypophosphatemic rickets.
21902834 tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type in X-linked dominant Hypophosphatemic Rickets
21902707 Hypophosphatemic rickets (HR) is a rare hereditary disease in which dental problems in terms of spontaneous periapical infections are frequently reported
21826652 PTHrP(1-34)-mediated repression of the PHEX gene in osteoblastic cells involves the transcriptional repressor E4BP4.
21553362 Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
21293852 Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.
21050253 Data show the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.
20835608 M. leprae is capable of inhibiting PHEX expression in osteoblasts in a very similar manner as that observed in Schwann cells, indicating that the bacillus modulates PHEX in both osteogenic and non-osteogenic cells.
20817730 Cooperative role of NF-{kappa}B and poly(ADP-ribose) polymerase 1 (PARP-1) in the TNF-induced inhibition of PHEX expression in osteoblasts.
20664300 Case Report: describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu(96)X (c.286G>T) causing X linked hypophosphatemic rickets in a mother and daughter of Indian ancestry.
20424473 Observational study of gene-disease association. (HuGE Navigator)
19513579 We conclude that molecular genetic analysis confirms the clinical diagnosis of XLH and should include sequence analysis as well as the search for large deletions, which is facilitated by MLPA.
19219621 missense mutations in X-linked dominant hypophosphatemic rickets
18660670 inactivating mutations in PHEX increase, through yet unknown mechanisms, FGF23 synthesis and thus enhance renal phosphate excretion-REVIEW
18625346 Data indicate that there is no single predominant PHEX mutation responsible for X-linked hypophosphatemic rickets.
18455459 U(2)OS cells transfected with wild-type TNAP and polymorphism TNAP cDNA showed PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) induction as in SaOS-2 cells.
18252791 Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.
18214537 mRNA of PHEX involved in the pathogenesis of hypophosphataemic rickets is highly expressed in cells of the osteoblasts/osteocyte lineage.
18172553 These data provide evidence that aberrant Phex function in osteoblasts and/or osteocytes alone is sufficient to underlie the hyp-mouse phenotype.
18162710 Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons.
18046499 The results suggest that PHEX gene mutations were responsible for XLH in these patients and these mutations may contribute to a higher serum fibroblast growth factor 23 level.
17406123 Our data support previous findings and therefore contribute to the decipherment of the pathogenetic pathways of XLH.
16437029 XLH is caused by mutations in the PHEX (phosphate regulating gene with homology to endopeptidases) gene, which is located on Xp22.1.
16055933 seven PHEX mutations were detected in X-linked hypophosphatemic rickets patients: two missense mutations, two nonsense mutations, and three short deletions; no functional FGF23 mutation was detected in any patient
15940367 Overexpression of human PHEX under the human beta-actin promoter in hypophosphatemia mice rescued the bone phenotype almost completely, but did not affect phosphate homeostasis.
15896324 In our present study, we found that suppression of PHEX expression by PHEX antisense in human osteoblast cells caused an increase in cathepsin D expression at protein, but not mRNA, levels.
15337762 a cis-element is required for PHEX gene transcription that participates in negative feedback control of PHEX expression and thereby modulates the actions of phosphatonin
15268897 FGF23 is processed by proprotein convertases but not by PHEX.
15057978 Anthropometric characteristics arising from mutations of PHEX were evaluated.
12874285 regulates fgf23 expression as part of a potential hormonal axis between bone and kidney that controls systemic phosphate homeostasis and mineralization
12791601 There is evidence for a hormone/enzyme/extracellular matrix protein cascade involving fibroblastic growth factor 23 (FGF23), a phosphate-regulating gene with homologies to (PHEX) and (MEPE)--REVIEW
12678920 fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein sequences are potential PHEX substrates

AA Sequence

MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECIEAAAAILSKV      1 - 70
NLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYS     71 - 140
SCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSP    141 - 210
DDKASNEHILKLDQATLSLAVREDYLDNSTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIK    211 - 280
IAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDL    281 - 350
FRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK    351 - 420
MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPEFIMNDTHVNE    421 - 490
DLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFF    491 - 560
WGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSNYYWKKA    561 - 630
GLNVKGKRTLGENIADNGGLREAFRAYRKWINDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEA    631 - 700
AREQVQIGAHSPPQFRVNGAISNFEEFQKAFNCPPNSTMNRGMDSCRLW                         701 - 749
//

Text Mined References (89)

PMID Year Title
26362198 2015 Downregulation of PHEX in multibacillary leprosy patients: observational cross-sectional study.
26107949 2015 Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
26051471 2015 Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets.
25839938 2015 Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
25042154 2015 PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
24857004 2014 [Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].
24836714 2014 Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
24489884 2014 Genome-wide association study of proneness to anger.
24078575 2013 [Analysis of PHEX gene mutation in a hypophosphatasia pedigree].
23813354 2013 PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
23079138 2013 Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
22889924 2013 Genome-wide association study of Tourette's syndrome.
22713460 2012 Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
22695891 2012 Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
22577109 2012 Mutational analysis of patients with FGF23-related hypophosphatemic rickets.
22339660 2012 Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway.
22101457 2012 Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
21902834 2011 Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
21902707 2012 Periapical and endodontic status of permanent teeth in patients with hypophosphatemic rickets.
21826652 2012 PTHrP(1-34)-mediated repression of the PHEX gene in osteoblastic cells involves the transcriptional repressor E4BP4.
21553362 2011 Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
21293852 2011 Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.
21050253 2011 Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
20835608 2010 Mycobacterium leprae downregulates the expression of PHEX in Schwann cells and osteoblasts.
20817730 2010 Cooperative role of NF-{kappa}B and poly(ADP-ribose) polymerase 1 (PARP-1) in the TNF-induced inhibition of PHEX expression in osteoblasts.
20664300 2010 Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
20578943 2010 Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
19775205 2010 Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage.
19581284 2009 Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.
19513579 2009 Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
19429806 2009 A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
19309785 2009 Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic.
19219621 2009 PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
18660670 2008 PHEX, FGF23, DMP1 and beyond.
18625346 2008 Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
18455459 2008 Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells.
18252791 2008 Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.
18214537 2008 What's new in hypophosphataemic rickets?
18172553 2008 Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia.
18162710 2007 PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.
18046499 2007 Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
17406123 2007 Novel PHEX mutation associated with hypophosphatemic rickets.
16636593 2006 Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
16437029 2004 Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.
16303832 2006 Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.
16055933 2005 A clinical and molecular genetic study of hypophosphatemic rickets in children.
15940367 2005 Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.
15896324 2005 Altered cathepsin D metabolism in PHEX antisense human osteoblast cells.
15818436 2005 Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15470265 2004 The wrickkened pathways of FGF23, MEPE and PHEX.
15337762 2004 1,25-dihydroxyvitamin D3 down-regulation of PHEX gene expression is mediated by apparent repression of a 110 kDa transfactor that binds to a polyadenine element in the promoter.
15268897 2004 FGF23 is processed by proprotein convertases but not by PHEX.
15057978 2004 Anthropometric characteristics of X-linked hypophosphatemia.
12874285 2003 Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX.
12791601 2003 FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization.
12727977 2003 Structure and function of disease-causing missense mutations in the PHEX gene.
12678920 2003 Human recombinant endopeptidase PHEX has a strict S1' specificity for acidic residues and cleaves peptides derived from fibroblast growth factor-23 and matrix extracellular phosphoglycoprotein.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11805167 2002 Effects of PHEX antisense in human osteoblast cells.
11502829 2001 Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.
11502821 2001 X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
11468271 2001 Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.
11409890 2001 FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate.
11336925 2001 Phosphate wasting in oncogenic osteomalacia: PHEX is normal and the tumor-derived factor has unique properties.
11311133 2001 Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors.
11004247 2000 Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
10737991 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
10620182 2000 PHEX gene and hypophosphatemia.
10460513 1999 PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia.
10439971 1999 Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
10069185 1999 X-linked hypophosphataemia: a homologous disorder in humans and mice.
9768674 1998 Mutational analysis of PHEX gene in X-linked hypophosphatemia.
9768646 1998 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.
9690034 1998 The role of the PHEX gene (PEX) in families with X-linked hypophosphataemic rickets.
9593714 1998 Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity.
9199999 1997 Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts.
9199930 1997 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
9106524 1997 Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
9097956 1997 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
9077527 1997 Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice.
9070861 1997 Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7550339 1995 A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.
2163973 1990 The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.