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Gene Information
Gene ID:5251
Symbol:PHEX
Full Name:phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets)
Alias:HPDR|HPDR1|HYP|HYP1|PEX|XLH
Organism:Homo sapiens (Human)
Chromosome:X
Genetic Location:Xp22.2-p22.1
Physical Location:21960841-22176398 on NC_000023.9
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:PHEX
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000444.4NP_000435.3NC_000023.9 range: 21960841..22176398
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005886plasma membraneCellular ComponentTAS (9593714)
GO:0005887integral to plasma membraneCellular ComponentTAS (9593714)
GO:0046872metal ion bindingMolecular FunctionIEA
GO:0004177aminopeptidase activityMolecular FunctionIEA
GO:0004245neprilysin activityMolecular FunctionIEA
GO:0008270zinc ion bindingMolecular FunctionTAS (9070861)
GO:0007267cell-cell signalingBiological ProcessTAS (7550339)
GO:0006508proteolysisBiological ProcessTAS (9593714)
GO:0006464protein modification processBiological ProcessTAS (7550339)
GO:0001503ossificationBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:5251
HGNC:8918
Ensembl:ENSG00000102174
MIM:300550
HPRD:02387
HuGE Navigator:5251
dbSNP:PHEX
GeneCard:PHEX
AceView:PHEX