UMOD (Gene)

Synonyms:ADMCKD2, ADTKD1, ENTREZ:7369, FJHN, HGNC:12559, HNFJ, HNFJ1, MCKD2, MIM:191845, NM_001008389, NM_001278614, NM_001378232, NM_001378233, NM_001378234, NM_001378235, NM_001378237, NM_003361, NP_001008390, NP_001265543, NP_001365161, NP_001365162, NP_001365163, NP_001365164, NP_001365166, NP_003352, NR_165456, THGP, THP, UMOD, XM_011545935, XM_011545936, XM_011545937, XM_011545938, XM_024450433, XP_011544237, XP_011544238, XP_011544239, XP_011544240, XP_024306201, uromodulin
Omim:OMIM:191845
Id:ENSG00000169344
Hgnc:HGNC:12559
Entrez:7369
Description:uromodulin
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]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View UMOD's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with UMOD.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using UMOD.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for UMOD.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with UMOD.

This repository is under review for potential modification in compliance with Administration directives.