Phex
Gene Detail

Symbol Name ID

Phex phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) MGI:107489

Synonyms

HPDR1

Feature Type

protein coding gene

Genetic Map

Chromosome X

72.38 cM
Detailed Genetic Map ± 1 cM


Mapping data(29)

Sequence Map

ChrX:157162075-157415312 bp, - strand From VEGA annotation of GRCm38   253238 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:37310  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: neprilysin-like metallopeptidase
Gene Tree: Phex

Human homologs

Human Homolog		PHEX, phosphate regulating endopeptidase homolog, X-linked
NCBI Gene ID		5251
neXtProt AC		NX_P78562
Human Synonyms		HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
Human Chr (Location)		Xp22.2-p22.1; chrX:22050921-22266478 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PHEX

Alleles and phenotypes

All alleles(12) : Targeted(4) Spontaneous(3) Chemically induced(5)
 

Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms.

 
Human Diseases Modeled Using Mouse Phex (2)    Alleles Annotated to Human Diseases(7)    Phenotype Images(10)

Gene Ontology (GO) classifications

All GO classifications: (15 annotations)

Process	biomineral tissue development, bone mineralization, ...
Component	endoplasmic reticulum, Golgi apparatus, ...
Function	hydrolase activity, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (38)    Tissues (9)    Images (18)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	36
RT-PCR	2

cDNA source data(42)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(53) Genomic(8) cDNA(44) Primer pair(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000019369 (Evidence)
Ensembl Gene Model	ENSMUSG00000057457 (Evidence)
Entrez Gene	18675 (Evidence)
UniGene	2529
DFCI	TC1589524, TC1658616, TC1709225
DoTS	DT.55208733, DT.87047184
NIA Mouse Gene Index	U039822
EC	3.4.24.-
Consensus CDS Project	CCDS30497.1
International Mouse Knockout Project Status	Phex

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019369	VEGA Gene Model | MGI Sequence Detail	253238	C57BL/6J
transcript	OTTMUST00000046299	VEGA | MGI Sequence Detail	2201	Not Applicable
polypeptide	OTTMUSP00000020910	VEGA | MGI Sequence Detail	548	Not Applicable

All sequences(41) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(2) : SNPs(708 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR024079	Metallopeptidase, catalytic domain
InterPro	IPR008753	Peptidase M13
InterPro	IPR000718	Peptidase M13, neprilysin
InterPro	IPR018497	Peptidase M13, neprilysin, C-terminal
InterPro	IPR015603	Phosphate Regulating Neutral Endopeptidase
Protein Ontology	PR:000029672	phosphate-regulating neutral endopeptidase

References

(Earliest) J:28887 Carter TC, et al., The genetic sensitivity to X-rays of mouse foetal gonads. Genet Res. 1960;1:351-5
(Latest) J:193881 Koehne T, et al., Osteopetrosis, osteopetrorickets and hypophosphatemic rickets differentially affect dentin and enamel mineralization. Bone. 2013 Mar;53(1):25-33
All references(178)

Other accession IDs

MGD-MRK-10343, MGD-MRK-11040, MGD-MRK-36057