PHEX Back

phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PHEX
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. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Community Annotation of PHEX Add / Edit PHEX: Annotations

No community annotations yet for PHEX.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PHEX is highly significantly mutated in
(none)
PHEX is significantly mutated in
(none)
PHEX is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PHEX