UMOD

uromodulin

Ensembl:
ENSG00000169344
UniProt:
P07911
OMIM:
191845

Cilia effects upon perturbation of UMOD

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.84) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased blood urea nitrogen level, decreased hemoglobin content, decreased hematocrit
Human ciliopathy phenotype:
kidney disease; autosomal dominant medullary cystic kidney disease with or without hyperuricemia; chronic kidney disease; kidney failure

Ciliopathy associations

  • Autosomal Dominant Tubulointerstitial Kidney Disease

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Protein processing & maturation
  • Cell migration & adhesion
  • Ciliary membrane

Function

Mutations are responsible for medullary cystic kidney disease type 2 (15029248), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. Expressed in re l primary cilia. UMOD mutations result in decreased ciliary uromodulin expression and delayed ER to Golgi trafficking (20172860 ).