• Gene id: 5251

Gene Summary

• Gene Symbol: PHEX   Gene   UCSC   Ensembl
• Aliases: HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
• Gene name: phosphate regulating endopeptidase homolog X-linked
• Alternate names: phosphate-regulating neutral endopeptidase PHEX, X-linked hypophosphatemia protein, metalloendopeptidase homolog PEX, phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets), phosphate-re,
• Gene location: Xp22.11 (22032324: 22251309)     Exons: 26     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption.
• OMIM: 300550

Protein Summary

• Protein general information: P78562  
  • Name: Phosphate regulating neutral endopeptidase PHEX (EC 3.4.24. ) (Metalloendopeptidase homolog PEX) (Vitamin D resistant hypophosphatemic rickets protein) (X linked hypophosphatemia protein) (HYP)
  • Length: 749  
  • Mass: 86474
  • Tissue specificity: Specifically expressed in ovary (PubMed
• Sequence:

  MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECIEAAAAILSKVNLSVD
  PCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEK
  ADAKPLLHILRHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQA
  TLSLAVREDYLDNSTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM
  NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKKTIANYLVWRMVYSRI
  PNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDML
  EKENEWMDAGTKRKAKEKARAVLAKVGYPEFIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAV
  PKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD
  PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKWINDRRQGLEEPLLPG
  ITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGAISNFEEFQKAFNCPPNSTMNRGMDSCRLW

• Structural information:
  • Protein Domains: (53..74-)
    (/note="Peptidase-M13)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01233"-)
  • Interpro: IPR024079  IPR000718  IPR018497  IPR042089  IPR008753  
  • Prosite: PS51885 PS00142
  • CDD: cd08662
  • STRING: ENSP00000368682
• Other Databases: GeneCards:  PHEX  Malacards:  PHEX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0031214	biomineral tissue development	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0006464	cellular protein modification process	TAS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0019637	organophosphate metabolic process	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0071305	cellular response to vitamin D	IEA	biological process
GO:1904383	response to sodium phosphate	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0033280	response to vitamin D	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060416	response to growth hormone	IEA	biological process
GO:0071374	cellular response to parathyroid hormone stimulus	IEA	biological process
GO:1990418	response to insulin-like growth factor stimulus	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006508	proteolysis	IDA	biological process

Diseases

Associated diseases	References
Hypophosphatemic rickets	KEGG:H00214
X-linked dominant hypophosphatemic rickets	KEGG:H02143
Hypophosphatemic rickets	KEGG:H00214
X-linked dominant hypophosphatemic rickets	KEGG:H02143
X-linked dominant hypophosphatemic rickets	PMID:9106524
X-linked dominant hypophosphatemic rickets	PMID:7550339
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)