About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:155945071-156198282 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 72.38 cM
  • Mapping Data
    29 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5274 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107489
 protein coding gene ChrX:155945071-156198308 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036216
 protein coding gene ChrX:155046096-155301408 (-)
A/J MGP_AJ_G0036186
 protein coding gene ChrX:154336132-154619267 (-)
AKR/J MGP_AKRJ_G0036114
 protein coding gene ChrX:159198772-159480707 (-)
BALB/cJ MGP_BALBcJ_G0036179
 protein coding gene ChrX:152416196-152676188 (-)
C3H/HeJ MGP_C3HHeJ_G0035885
 protein coding gene ChrX:155411409-155656835 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036701
 protein coding gene ChrX:159609916-159872462 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033522
 protein coding gene ChrX:145738788-145980417 (-)
CAST/EiJ MGP_CASTEiJ_G0035173
 protein coding gene ChrX:134499410-134753336 (-)
CBA/J MGP_CBAJ_G0035860
 protein coding gene ChrX:164170667-164451432 (-)
DBA/2J MGP_DBA2J_G0036026
 protein coding gene ChrX:153352516-153599530 (-)
FVB/NJ MGP_FVBNJ_G0035957
 protein coding gene ChrX:152446963-152687987 (-)
LP/J MGP_LPJ_G0036111
 protein coding gene ChrX:156205341-156465706 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035989
 protein coding gene ChrX:172741564-173015814 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036742
 protein coding gene ChrX:154609364-154851288 (-)
PWK/PhJ MGP_PWKPhJ_G0034871
 protein coding gene ChrX:131469640-131712983 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034692
 protein coding gene ChrX:134990357-135222530 (-)
WSB/EiJ MGP_WSBEiJ_G0035308
 protein coding gene ChrX:152586662-152848783 (-)



Homology
more
  • Human Ortholog
    PHEX, phosphate regulating endopeptidase X-linked
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHEX, phosphate regulating endopeptidase X-linked
  • Synonyms
    HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
  • Links
    NCBI Gene ID: 5251
    neXtProt AC: NX_P78562
    UniProt: P78562

  • Chr Location
    Xp22.11; chrX:22032325-22494713 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Phex mouse models; 1 with human PHEX associations

Human Disease Mouse Models
      
IDs
 View 20 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
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    125 phenotypes from 12 alleles in 15 genetic backgrounds
    21 phenotypes from multigenic genotypes
    10 images
    189 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
less
  • All GO Annotations
    28
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    789
  • Tissues
    44
  • cDNA Data
    43
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18675 NCBI Gene Model | MGI Sequence Detail 253212 C57BL/6J ±  kb
    transcript NM_011077 RefSeq | MGI Sequence Detail 6265 ZRU/MplStud  
    polypeptide P70669 UniProt | EBI | MGI Sequence Detail 749 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      Genomic 8
      cDNA 45
      Primer pair 4
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10343, MGD-MRK-11040, MGD-MRK-36057
    References
    more
    • Summaries
      All 254
      Developmental Gene Expression 21
      Diseases 11
      Gene Ontology 9
      Phenotypes 189
    • Earliest
      J:28887 Carter TC, et al., The genetic sensitivity to X-rays of mouse foetal gonads. Genet Res. 1960;1(3):351-5
    • Latest
      J:357512 Qian C, et al., A PAI-1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D-resistant rickets model mouse. FEBS Open Bio. 2024 Feb;14(2):290-299
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory