======= UMOD ======= == Gene Information == * **Official Symbol**: UMOD * **Official Name**: uromodulin * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7369|7369]] * **UniProt**: [[https://www.uniprot.org/uniprot/P07911|P07911]] * **Interactions**: [[https://thebiogrid.org/search.php?search=UMOD&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20UMOD|Open PubMed]] * **OMIM**: [[https://omim.org/entry/191845|Open OMIM]] == Function Summary == * **Entrez Summary**: The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]. * **UniProt Summary**: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515). {ECO:0000269|PubMed:20798515, ECO:0000269|PubMed:3498215, ECO:0000305}. |EGF 3| |cEGF| |Zona pellucida| |EGF CA| |metanephric thick ascending limb development| |thick ascending limb development| |metanephric ascending thin limb development| |ascending thin limb development| |distal convoluted tubule development| |metanephric loop of Henle development| |metanephric distal convoluted tubule development| |metanephric distal tubule development| |IgG binding| |loop of Henle development| |distal tubule development| |metanephric nephron tubule development| |metanephric nephron epithelium development| |metanephric tubule development| |metanephric epithelium development| |excretion| |heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules| |leukocyte cell-cell adhesion| |cellular defense response| |ciliary membrane| |extrinsic component of membrane| |nephron tubule development| |renal tubule development| |metanephros development| |neutrophil migration| |nephron epithelium development| |granulocyte migration| |Golgi lumen| |anchored component of membrane| |spindle pole| |nephron development| |myeloid leukocyte migration| |kidney epithelium development| |basolateral plasma membrane| |cilium| |cell-cell adhesion via plasma-membrane adhesion molecules| |kidney development| |renal system development| |apical plasma membrane| |urogenital system development| |leukocyte migration| |cell-cell adhesion| |negative regulation of cell population proliferation| |calcium ion binding| |ion homeostasis| |tube development| |cell adhesion| |biological adhesion| |cell migration| |cell motility| |localization of cell| |chemical homeostasis| |epithelium development| |locomotion| |defense response| |movement of cell or subcellular component| |regulation of cell population proliferation| |homeostatic process| |tissue development| |system process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 1/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|1/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 11775 * **Expression level (log2 read counts)**: -7.68 {{:chemogenomics:nalm6 dist.png?nolink |}}