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Phex Gene Detail
Summary
  • Symbol
    Phex
  • Name
    phosphate regulating endopeptidase homolog, X-linked
  • Synonyms
    HPDR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:107489
    NCBI Gene: 18675
  • Gene Overview
    MyGene.info: PHEX
  • Alliance
Location & Maps
more
  • Sequence Map
    ChrX:157162075-157415312 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      253238 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 72.38 cM
  • Mapping Data
    29 experiments
Homology
more
  • Human Ortholog
    PHEX, phosphate regulating endopeptidase homolog X-linked
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PHEX, phosphate regulating endopeptidase homolog X-linked
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
  • Links
    NCBI Gene ID: 5251
    neXtProt AC: NX_P78562
    UniProt: P78562

  • Chr Location
    Xp22.11; chrX:22032327-22251310 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Phex mouse models; 1 with human PHEX associations

Human Disease Mouse Models
      
IDs
View 18 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    109 phenotypes from 12 alleles in 16 genetic backgrounds
    21 phenotypes from multigenic genotypes
    10 images
    142 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      789 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      Genomic 8
      cDNA 44
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10343, MGD-MRK-11040, MGD-MRK-36057
    References
    more
    • Summaries
      All 198
      Developmental Gene Expression 13
      Diseases 10
      Gene Ontology 5
      Phenotypes 142
    • 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:246176 Ma Y, et al., FGF23 Is Not Required to Regulate Fetal Phosphorus Metabolism but Exerts Effects Within 12 Hours After Birth. Endocrinology. 2017 Feb 01;158(2):252-263

    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
    05/08/2018
    MGI 6.12
    The Jackson Laboratory