Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: PHEX (phosphate regulating endopeptidase homolog X-linked) Homo sapiens
Analyze
Symbol: PHEX
Name: phosphate regulating endopeptidase homolog X-linked
Description: 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]
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
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X22,032,327 - 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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

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

CRRD Object Information
CRRD ID: 733664
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-23
Status: ACTIVE



NHLBI Logo

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