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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

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:22032444-22251310 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PHEX
Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Chemically induced (ENU)(6) Radiation induced(1) Spontaneous(3) Targeted(4)
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 Using Mouse Phex (2)    Alleles 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: (11 records)
Data Summary: Results (38)    Tissues (9)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 36
RT-PCR 2
cDNA source data(42)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(53) Genomic(8) cDNA(44) Primer pair(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000019369 (Evidence)
Ensembl Gene ModelENSMUSG00000057457 (Evidence)
Entrez Gene18675 (Evidence)
UniGene2529
DFCITC1589524, TC1658616, TC1709225
DoTSDT.55208733, DT.87047184
NIA Mouse Gene IndexU039822
EC3.4.24.-
Consensus CDS ProjectCCDS30497.1
International Mouse Knockout Project StatusPhex
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(45) RefSeq(2) UniProt(9)
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:211926 Ohata Y, et al., Elevated fibroblast growth factor 23 exerts its effects on placenta and regulates vitamin D metabolism in pregnancy of Hyp mice. J Bone Miner Res. 2014 Jul;29(7):1627-38
All references(183)
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
10/21/2014
MGI 5.20
The Jackson Laboratory