Phex phosphate regulating endopeptidase homolog, X-linked [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Phexprovided by MGI
Official Full Name: phosphate regulating endopeptidase homolog, X-linkedprovided by MGI
Primary source: MGI:MGI:107489
See related: Ensembl:ENSMUSG00000057457 AllianceGenome:MGI:107489
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gy; Hyp; PEX; HPDR; HPDR1
Summary: Predicted to enable metalloendopeptidase activity. Acts upstream of or within bone mineralization; odontogenesis; and organophosphate metabolic process. Located in Golgi apparatus; endoplasmic reticulum; and perinuclear region of cytoplasm. Is expressed in several structures, including chondrocranium; epidermis; limb; liver; and tooth. Used to study X-linked dominant hypophosphatemic rickets and otitis media. Human ortholog(s) of this gene implicated in X-linked dominant hypophosphatemic rickets. Orthologous to human PHEX (phosphate regulating endopeptidase X-linked). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 1.5), CNS E18 (RPKM 0.2) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F4; X 72.38 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (155945071..156198282, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (157162075..157415286, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
Title: Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
PHEX(L222P) Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.
Title: PHEX(L222P) Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
Title: Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
Osteocytes but not osteoblasts directly build mineralized bone structures.
Title: Osteocytes but not osteoblasts directly build mineralized bone structures.
the phex mutation may create the lower set point for extracellular phosphate concentrations in a murine model of X-linked hypophosphatemia
Title: Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.
Hyp/Lrp6 double mutants developed the same reduced bone mineralization,hypophosphatemia & high FGF23 levels as Hyp(-) mice, showing that WNT signaling does not affect the FGF23-induced phosphate wasting.
Title: FGF23-induced hypophosphatemia persists in Hyp mice deficient in the WNT coreceptor Lrp6.
demonstrates a previously unknown impact of retinol on the cell-autonomous mineralization defect of Phex-deficient osteoblasts
Title: Retinol deprivation partially rescues the skeletal mineralization defects of Phex-deficient Hyp mice.
results identify full-length OPN as novel, physiologically relevant substrates for PHEX, suggesting accumulation of mineralization-inhibiting OPN fragments may contribute to the mineralization defect seen in the osteomalacic bone characteristic of XLH/HYP
Title: Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia.
Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media.
Title: Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media.
These data suggest that Phex mutations alter the responsiveness of bone cells to extracellular phosphate concentrations and may create a lower set point for "normal" phosphate levels.
Title: A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (6) 1 citation
Endonuclease-mediated (1)
Spontaneous (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Phex (e-PCR), detects polymorphism
- UniSTS:498438

U49908 (e-PCR)
- UniSTS:163625

AI848741 (e-PCR)
- UniSTS:181187

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bone development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to parathyroid hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to vitamin D	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within organophosphate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in response to growth hormone	IEA Inferred from Electronic Annotation more info
involved_in response to insulin-like growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to sodium phosphate	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: phosphate-regulating neutral endopeptidase PHEX

Names: Metalloendopeptidase homolog PEX (Phosphate regulating neutral endopeptidase) (X-linked hypophosphatemia protein) (HYP) (Vitamin D-resistant hypophosphatemic rickets protein); X-linked hypophosphatemia protein; X-linked phosphate regulating endopeptidase; phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets); phosphate regulating neutral endopeptidase; vitamin D-resistant hypophosphatemic rickets protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011077.2 → NP_035207.1 phosphate-regulating neutral endopeptidase PHEX

See identical proteins and their annotated locations for NP_035207.1

Status: VALIDATED

Source sequence(s)

AK158481, CT572987, U49908

Consensus CDS

CCDS30497.1

UniProtKB/Swiss-Prot

P70669, P97439

UniProtKB/TrEMBL

A2ICR0, Q3TYM9

Related

ENSMUSP00000078863.5, ENSMUST00000079945.11

Conserved Domains (2) summary

cd08662
Location:74 → 747

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:67 → 741

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]