PHEX Chromosome X
Phosphate regulating endopeptidase X-linked
Upload your DNA to see your personal genotypes for variants in PHEX.
What This Gene Does
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]
Gene Info
Gene Group
M13 metallopeptidases
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000102174
Associated Conditions (16)
Familial X-linked hypophosphatemic vitamin D refractory rickets
Inborn genetic diseases
Intellectual disability
PHEX-related disorder
Thyroid cancer
nonmedullary
1
Hypophosphatemic rickets
Nonpapillary renal cell carcinoma
See cases
Lower limb pain
Bowing of the legs
Hypophosphataemia or rickets
Vitamin D-dependent rickets
type 2
Autosomal dominant hypophosphatemic rickets
Key Variants
RS1057517797
Conflicting classifications of pathogenicity
Health Risk
RS1057517904
Conflicting classifications of pathogenicity
Health Risk
RS1057524608
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
RS1064793226
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
RS1064795949
Conflicting classifications of pathogenicity
Health Risk
RS1064796435
Conflicting classifications of pathogenicity
Health Risk
RS1293482406
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1365010493
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138497409
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140742016
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
RS144911719
Conflicting classifications of pathogenicity
Health Risk
RS145393882
Conflicting classifications of pathogenicity
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
Health Risk
All Variants (699)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147086323 | Health Risk | Likely pathogenic | Hypophosphatemic rickets, Hypophosphatemic rickets |
| RS2147086411 | Health Risk | Likely pathogenic | — |
| RS2147128208 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2147139114 | Health Risk | Likely pathogenic | — |
| RS2147139133 | Health Risk | Likely pathogenic | — |
| RS2147183142 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2147184796 | Health Risk | Likely pathogenic | Hypophosphatemic rickets, Hypophosphatemic rickets |
| RS2147184841 | Health Risk | Likely pathogenic | — |
| RS2147217463 | Health Risk | Likely pathogenic | — |
| RS2518515412 | Health Risk | Likely pathogenic | — |
| RS2518520358 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2518592983 | Health Risk | Likely pathogenic | — |
| RS2518593055 | Health Risk | Likely pathogenic | — |
| RS2518593163 | Health Risk | Likely pathogenic | — |
| RS2518593316 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2518593357 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2518652917 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2518659982 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2518660315 | Health Risk | Likely pathogenic | — |
| RS2518664469 | Health Risk | Likely pathogenic | — |
| RS2518664559 | Health Risk | Likely pathogenic | — |
| RS2518674891 | Health Risk | Likely pathogenic | — |
| RS2518676659 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2518676990 | Health Risk | Likely pathogenic | — |
| RS2518713587 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2518713623 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2519722144 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2519722494 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2519722716 | Health Risk | Likely pathogenic | — |
| RS2519772125 | Health Risk | Likely pathogenic | — |
| RS2519772389 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2519772399 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS2519775597 | Health Risk | Likely pathogenic | — |
| RS267606946 | Health Risk | Likely pathogenic | — |
| RS886041375 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS921572266 | Health Risk | Likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1057517787 | Health Risk | Pathogenic | — |
| RS1057517788 | Health Risk | Pathogenic | — |
| RS1057517790 | Health Risk | Pathogenic | — |
| RS1057517791 | Health Risk | Pathogenic | — |
| RS1057517792 | Health Risk | Pathogenic | — |
| RS1057517793 | Health Risk | Pathogenic | — |
| RS1057517794 | Health Risk | Pathogenic | — |
| RS1057517799 | Health Risk | Pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1057517896 | Health Risk | Pathogenic | See cases, See cases |
| RS1057517979 | Health Risk | Pathogenic | — |
| RS1057518348 | Health Risk | Pathogenic | — |
| RS1057518377 | Health Risk | Pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1057518596 | Health Risk | Pathogenic | — |
| RS1057518896 | Health Risk | Pathogenic | Hypophosphatemic rickets, Lower limb pain, Bowing of the legs |