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Phex
Gene Detail
Symbol

Name
ID
Phex
phosphate regulating endopeptidase homolog, X-linked
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 western clawed frog; 1 zebrafish

HCOP human homology predictions: PHEX
Protein SuperFamily: neprilysin-like metallopeptidase
Gene Tree: Phex

Human
homologs
PHEX, phosphate regulating endopeptidase homolog, X-linked
Orthology source: HomoloGene

IDs:
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:22032327-22251310 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PHEX

Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Chemically induced (ENU)(6) Radiation induced(1) Spontaneous(3) Targeted(5)
Genomic Mutations involving Phex (1)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Phex (2)    Mutations Annotated to Human Diseases (9)    Phenotype Images(10)
Interactions
Phex interacts with 294 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
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: (12 records)
Data Summary: Results (68)    Tissues (33)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 30
RNA in situ 36
RT-PCR 2
cDNA source data(42)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase phex ; ZFIN phex    NEW 
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, TC1709225, TC1658616
DoTS DT.87047184, DT.55208733
NIA Mouse Gene Index U039822
EC 3.4.24.-
Consensus CDS Project CCDS30497.1
International Mouse Phenotyping Consortium Status Phex
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019369 VEGA Gene Model | MGI Sequence Detail 253238 C57BL/6J ±  kb
transcript OTTMUST00000046299 VEGA | MGI Sequence Detail 2201 Not Applicable 
polypeptide OTTMUSP00000020910 VEGA | MGI Sequence Detail 548 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(4) UniProt(5)
Polymorphisms
RFLP(2) : SNPs within 2kb(807 from dbSNP Build 137)    SNPs within 2kb including multiple locations(817)
Protein-related
information
ResourceIDDescription
InterPro IPR024079 Metallopeptidase, catalytic domain
InterPro IPR000718 Peptidase M13
InterPro IPR018497 Peptidase M13, C-terminal domain
InterPro IPR008753 Peptidase M13, N-terminal domain
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:217457 Zelenchuk LV, et al., SPR4-peptide alters bone metabolism of normal and HYP mice. Bone. 2015 Mar;72:23-33
All references(185)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-10343, MGD-MRK-11040, MGD-MRK-36057

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory