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Gene: PHEX (phosphate regulating endopeptidase homolog X-linked) Homo sapiens
Symbol: PHEX
Name: phosphate regulating endopeptidase homolog X-linked
Description: Predicted to have zinc ion binding activity. Involved in proteolysis. Predicted to localize to the integral component of plasma membrane. Implicated in X-linked dominant hypophosphatemic rickets.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HPDR; HPDR1; HYP; HYP1; LXHR; metalloendopeptidase homolog PEX; PEX; phosphate regulating endopeptidase homolog, X-linked; phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets); phosphate regulating gene with homologies to endopeptidases on the x chromosome; phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets); phosphate-regulating neutral endopeptidase; phosphate-regulating neutral endopeptidase PHEX; vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; XLH
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 EnsemblX22,032,325 - 22,251,310 (+)Ensembl
GRCh38X22,032,325 - 22,251,310 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X22,050,921 - 22,266,478 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,960,842 - 22,176,399 (+)NCBINCBI36hg18NCBI36
Build 34X21,810,215 - 22,025,985NCBI
CeleraX26,171,770 - 26,387,304 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX19,791,354 - 20,006,299 (+)NCBIHuRef
CHM1_1X22,081,014 - 22,300,110 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on PHEX
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 733664
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.