======= PHEX ======= == Gene Information == * **Official Symbol**: PHEX * **Official Name**: phosphate regulating endopeptidase homolog X-linked * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5251|5251]] * **UniProt**: [[https://www.uniprot.org/uniprot/P78562|P78562]] * **Interactions**: [[https://thebiogrid.org/search.php?search=PHEX&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PHEX|Open PubMed]] * **OMIM**: [[https://omim.org/entry/300550|Open OMIM]] == Function Summary == * **Entrez 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. * **UniProt Summary**: Probably involved in bone and dentin mineralization and renal phosphate reabsorption. |Peptidase M13 N| |Peptidase M13| |response to insulin-like growth factor stimulus| |response to sodium phosphate| |cellular response to parathyroid hormone stimulus| |response to parathyroid hormone| |cellular response to vitamin D| |response to salt| |cellular response to vitamin| |response to vitamin D| |response to growth hormone| |bone mineralization| |cellular response to nutrient| |response to vitamin| |biomineral tissue development| |biomineralization| |metalloendopeptidase activity| |odontogenesis| |lung development| |respiratory tube development| |respiratory system development| |bone development| |response to nutrient| |cellular response to nutrient levels| |ossification| |cellular response to extracellular stimulus| |cellular response to external stimulus| |response to peptide hormone| |response to peptide| |skeletal system development| |response to nutrient levels| |cellular response to lipid| |response to extracellular stimulus| |response to inorganic substance| |cellular response to organic cyclic compound| |cellular response to hormone stimulus| |perinuclear region of cytoplasm| |zinc ion binding| |tube development| |response to lipid| |organophosphate metabolic process| |response to hormone| |response to organic cyclic compound| |animal organ morphogenesis| |Golgi apparatus| |response to organonitrogen compound| |endoplasmic reticulum| |cellular response to oxygen-containing compound| |response to nitrogen compound| |cell-cell signaling| |cellular response to endogenous stimulus| |proteolysis| |integral component of plasma membrane| |response to endogenous stimulus| |response to oxygen-containing compound| |tissue development| \\ === CRISPR Data === No hits were found. ^Gene^Correlation^ |[[:human genes:r:rrm1|RRM1]]|0.413| Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 13673 * **Expression level (log2 read counts)**: 0.49 {{:chemogenomics:nalm6 dist.png?nolink |}}