Tbio UMOD Uromodulin

Protein Summary

Description

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). Uromodulin, secreted form: In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals. 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 Accession IDs

• P07911
• B3KP48
• B3KRN9
• E9PEA4
• Q540J6
• Q6ZS84
• Q8IYG0

Gene Name

• UMOD

Ensembl ID

• ENST00000302509
• ENSP00000306279
• ENSG00000169344
• ENST00000396134
• ENSP00000379438
• ENST00000570689
• ENSP00000460548

Symbol

• THP
• FJHN
• HNFJ
• THGP
• HNFJ1
• MCKD2
• ADMCKD2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
gene perturbation	0.93
biological term	0.78
phenotype	0.68
cell type or tissue	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 797.65   (req: < 5)

Gene RIFs: 151   (req: <= 3)

Antibodies: 520   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 797.65   (req: >= 5)

Gene RIFs: 151   (req: > 3)

Antibodies: 520   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0