Identity
HGNC
LOCATION
Xp22.11
LOCUSID
ALIAS
HPDR,HPDR1,HYP,HYP1,LXHR,PEX,XLH
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5251
MIM: 300550
HGNC: 8918
Ensembl: ENSG00000102174
Variants:
dbSNP: 5251
ClinVar: 5251
TCGA: ENSG00000102174
COSMIC: PHEX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102174 | ENST00000379374 | P78562 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38927615 | 2024 | A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene. | 0 |
| 38927615 | 2024 | A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene. | 0 |
| 36351286 | 2023 | Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report. | 2 |
| 37059315 | 2023 | X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. | 0 |
| 37278761 | 2023 | Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. | 0 |
| 38066669 | 2023 | Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling. | 0 |
| 36351286 | 2023 | Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report. | 2 |
| 37059315 | 2023 | X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. | 0 |
| 37278761 | 2023 | Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. | 0 |
| 38066669 | 2023 | Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling. | 0 |
| 34806794 | 2022 | Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). | 10 |
| 35055123 | 2022 | Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia. | 2 |
| 35896147 | 2022 | A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia. | 2 |
| 36482408 | 2022 | Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets. | 1 |
| 34806794 | 2022 | Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). | 10 |
Citation
Dessen P
PHEX (phosphate regulating endopeptidase homolog X-linked)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/gene/57168/phex-(phosphate-regulating-endopeptidase-homolog-x-linked)
