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). |
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Gene in Ethanol Study Datasets |
Gene Information | | 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. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0005886 | plasma membrane | Cellular Component | TAS (9593714) | |
GO:0005887 | integral to plasma membrane | Cellular Component | TAS (9593714) | |
GO:0046872 | metal ion binding | Molecular Function | IEA | |
GO:0004177 | aminopeptidase activity | Molecular Function | IEA | |
GO:0004245 | neprilysin activity | Molecular Function | IEA | |
GO:0008270 | zinc ion binding | Molecular Function | TAS (9070861) | |
GO:0007267 | cell-cell signaling | Biological Process | TAS (7550339) | |
GO:0006508 | proteolysis | Biological Process | TAS (9593714) | |
GO:0006464 | protein modification process | Biological Process | TAS (7550339) | |
GO:0001503 | ossification | Biological Process | IEA | |
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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 |