uromodulin

Summary
Gene Symbol
  • UMOD
Aliases
  • Tamm-Horsfall glycoprotein
  • uromucoid
Organism
Homo sapiens (human)
External Links
NCBI Gene
7369
HGNC
12559
KEGG Gene ID
hsa:7369
PubChem
7369
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Ciliopathy
  • Cilium
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • GPI-anchor
  • Innate immunity
  • Nephronophthisis
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P07911
  • Tamm-Horsfall urinary glycoprotein
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K18274
Name
uromodulin
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 156 in total
DO ID Disease Name Source
DOID:0050576 Senior-Loken syndrome
DOID:0050741 alcohol dependence
DOID:0050745 diffuse large B-cell lymphoma
DOID:0060062 familial juvenile hyperuricemic nephropathy
DOID:0060239 Van der Woude syndrome
DOID:0060262 gallbladder disease
DOID:0060350 adenine phosphoribosyltransferase deficiency
DOID:0060357 chylomicron retention disease
DOID:0060467 humeroradial synostosis
DOID:0060891 Parkinson's disease 19A
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000083 Renal insufficiency
HP:0000092 Renal tubular atrophy
HP:0000112 Nephropathy
HP:0000123 Nephritis
HP:0001997 Gout
HP:0002149 Hyperuricemia
HP:0003621 Juvenile onset
HP:0003676 Progressive
HP:0012213 Decreased glomerular filtration rate
Displaying 1 entry
Disease ID Disease Name
OMIM:162000
  • familial juvenile hyperuricemic nephropathy type 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024