Phex Gene Summary [Mouse]
Predicted to enable metalloendopeptidase activity. Acts upstream of or within bone mineralization; odontogenesis; and organophosphate metabolic process. Located in Golgi apparatus; endoplasmic reticulum; and perinuclear region of cytoplasm. Is expressed in several structures, including chondrocranium; epidermis; limb; liver; and tooth. Used to study X-linked hypophosphatemic rickets and otitis media. Human ortholog(s) of this gene implicated in X-linked hypophosphatemic rickets. Orthologous to human PHEX (phosphate regulating endopeptidase X-linked). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Phex |
| Official Name | phosphate regulating endopeptidase homolog, X-linked [Source:MGI Symbol;Acc:MGI:107489] |
| Ensembl ID | ENSMUSG00000057457 |
| Bio databases IDs | |
| Aliases | phosphate regulating endopeptidase homolog, X-linked |
| Synonyms | Gy, HPDR, HPDR1, HYP, HYP1, LXHR, PEX, phosphate regulating endopeptidase homolog, X-linked, phosphate regulating endopeptidase X-linked, Phosp. reg. gene homol. to endopep. on the X chrom, XLH |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Phex often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- peptidase
- protein binding
- peptidase GluZincin family
- Peptidase family M13
- metalloendopeptidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked dominant hypophosphatemic rickets
- hypophosphatemic rickets
- osteomalacia
- hypophosphatemia
- rickets
- organismal death
- autosomal dominant hypophosphatemic rickets
- thyroid carcinoma
- epithelial thyroid cancer
- hyperphosphatemia
phenotypes
- abnormal body size
- abnormal bone mineralization
- abnormal femur morphology
- abnormal joint morphology
- abnormal radius morphology
- abnormal tail morphology
- abnormal tail movements
- abnormal tibia morphology
- abnormal ulna morphology
- abnormal vertebrae morphology
- abnormal vertebral arch morphology
- decreased blood urea nitrogen level
- decreased body length
- decreased body weight
- decreased circulating amylase level
- decreased circulating calcium level
- decreased circulating phosphate level
- decreased circulating triglyceride level
- increased CD8-positive alpha-beta T cell number
- increased circulating alkaline phosphatase level
- increased circulating potassium level
- increased lean body mass
- increased total body fat amount
- thin tail
- abnormal acetabulum morphology
- abnormal blood homeostasis
- abnormal bone structure
- abnormal caudal vertebrae morphology
- abnormal chondrocyte physiology
- abnormal circulating calcium level
- abnormal cochlea morphology
- abnormal compact bone morphology
- abnormal costochondral joint morphology
- abnormal cranial suture morphology
- abnormal craniofacial bone morphology
- abnormal cranium morphology
- abnormal fibrocartilage morphology
- abnormal gait
- abnormal hindlimb morphology
- abnormal inner ear morphology
- abnormal intestinal absorption
- abnormal limb bone morphology
- abnormal limb long bone morphology
- abnormal long bone epiphyseal plate morphology
- abnormal long bone epiphyseal plate proliferative zone
- abnormal long bone hypertrophic chondrocyte zone
- abnormal long bone metaphysis morphology
- abnormal long bone morphology
- abnormal obturator foramen morphology
- abnormal osteoclast physiology
- abnormal osteocyte lacuna morphology
- abnormal osteocyte lacunocanalicular system morphology
- abnormal osteoid morphology
- abnormal otic capsule morphology
- abnormal patella morphology
- abnormal pelvic girdle bone morphology
- abnormal postnatal growth/weight/body size
- abnormal renal glucose reabsorption
- abnormal renal phosphate reabsorption
- abnormal rib morphology
- abnormal scala tympani morphology
- abnormal skeleton morphology
- abnormal temporal bone morphology
- abnormal trabecular bone morphology
- abnormal urine nucleotide level
- abnormal vestibular saccule morphology
- abnormal vitamin D level
- camptomelia
- circling
- cochlear ganglion degeneration
- decreased body size
- decreased bone mineral content
- decreased bone mineral density
- decreased bone mineralization
- decreased bone resorption
- decreased chondrocyte apoptosis
- decreased circulating C-reactive protein level
- decreased circulating alkaline phosphatase level
- decreased circulating potassium level
- decreased compact bone thickness
- decreased cranium height
- decreased diameter of femur
- decreased intestinal calcium absorption
- decreased length of long bones
- decreased systemic arterial systolic blood pressure
- decreased total body fat amount
- decreased urine calcium level
- decreased vitamin D level
- disorganized long bone epiphyseal plate
- disproportionate dwarf
- distended Reissner membrane
- domed cranium
- ear inflammation
- enthesitis
- exostosis
- head bobbing
- impaired hearing
- increased activity of parathyroid
- increased circulating parathyroid hormone level
- increased diameter of femur
- increased diameter of long bones
- increased long bone epiphyseal plate size
- increased or absent threshold for auditory brainstem response
- increased susceptibility to otitis media
- increased urine creatinine level
- increased urine phosphate level
- increased width of hypertrophic chondrocyte zone
- maternal effect
- oliguria
- organ of Corti degeneration
- osteomalacia
- postnatal growth retardation
- rickets
- short femur
- short fibula
- short frontal bone
- short humerus
- short limbs
- short mandible
- short maxilla
- short nasal bone
- short premaxilla
- short radius
- short tail
- short tibia
- short ulna
- small caudal vertebrae
- small clavicle
- small cranium
- small vertebrae
- unilateral deafness
role in cell
- expression in
- morphology
- mineralization
- regulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- intracellular membrane-bounded organelle
- perinuclear region
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Phex gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- organophosphate metabolic process
- bone mineralization
- cell-cell signaling
- response to growth hormone stimulus
- odontogenesis
- bone development
- skeletal system development
- cellular response to parathyroid hormone stimulus
- proteolysis
- protein processing
- cellular response to vitamin D
- lung development
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- Golgi apparatus
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- metalloendopeptidase activity