Homo sapiens Gene: PHEX

Summary
InnateDB Gene IDBG-51794.5
Last Modified 2012-02-14   [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
IDBP-51796 phosphate regulating endopeptidase homolog, X-linked
IDBP-600445 phosphate regulating endopeptidase homolog, X-linked
IDBP-601303 phosphate regulating endopeptidase homolog, X-linked
IDBP-597987 phosphate regulating endopeptidase homolog, X-linked
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X: 22050559-22269427
Strand Forward strand
Band p22.11
Transcripts
ENST00000379374  ENSP00000368682
ENST00000418858  ENSP00000443531
ENST00000475778 
ENST00000537599  ENSP00000440362
ENST00000535894  ENSP00000439418
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
Accession GO Term
Molecular Function
GO:0004177 aminopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0008237 metallopeptidase 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
GO:0031214 biomineral tissue development
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral to plasma membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000057457 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000000419 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P78562 
TrEMBL B4DWG8 B4E334 D1LZJ7 F5GXU4
UniProt Splice Variant
Entrez Gene 5251 
UniGene Hs.495834 Hs.50125 Hs.662752
RefSeq NM_000444 
HUGO 8918 
OMIM 300550
CCDS CCDS14204 
HPRD 02387
IMGT
EMBL AD000712 AH004966 AK301528 AK304551 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  BAG65346  CAA69326  CAA71258 
ImmGen PHEX (murine) 
RNA Seq Atlas 5251