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
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 P78562
TrEMBL B4DWG8 D1LZJ7
UniProt Splice Variant
Entrez Gene 5251
UniGene Hs.495834 Hs.50125 Hs.662752
RefSeq NM_000444 NM_001282754
HUGO HGNC:8918
OMIM 300550
CCDS CCDS14204
HPRD 02387
IMGT
EMBL AD000712 AH004966 AK301528 BC105057 BC105059 GU111712 U60475 U73024 U75645 U82970 U87284 Y08111 Y08112 Y08113 Y08114 Y08115 Y08116 Y08117 Y08118 Y08119 Y08120 Y08121 Y08122 Y08123 Y08124 Y08125 Y08126 Y08127 Y08128 Y08129 Y08130 Y08131 Y08132 Y10196
GenPept AAB42219 AAB47562 AAB47749 AAB51604 AAC24487 AAC50552 AAD08630 AAI05058 AAI05060 ACZ05046 BAG63030 CAA69326 CAA71258
ImmGen PHEX (murine)
RNA Seq Atlas 5251