Homo sapiens Gene: PHEX
Summary
InnateDB Gene IDBG-51794.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHEX
Gene Name phosphate regulating endopeptidase homolog, X-linked
Synonyms HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH;
Species Homo sapiens
Ensembl Gene ENSG00000102174
Encoded Proteins
phosphate regulating endopeptidase homolog, X-linked
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Mutations in this gene cause X-linked hypophosphatemic rickets. [provided by RefSeq, Jul 2008]
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. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome X:22032441-22251310
Strand Forward strand
Band p22.11
Transcripts
ENST00000379374 ENSP00000368682
ENST00000475778
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004177 aminopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0008270 zinc ion binding
Biological Process
GO:0001501 skeletal system development
GO:0006464 cellular protein modification process
GO:0006508 proteolysis
GO:0007267 cell-cell signaling
GO:0019637 organophosphate metabolic process
GO:0030282 bone mineralization
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.495834 Hs.50125 Hs.662752
RefSeq NM_000444 NM_001282754
HUGO
OMIM
CCDS CCDS14204
HPRD 02387
IMGT
EMBL
GenPept
RNA Seq Atlas