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Protein Coding Gene : Umod uromodulin

Primary Identifier  MGI:102674 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  22242
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable IgG binding activity. Involved in metanephric nephron tubule development and monoatomic ion homeostasis. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; kidney development; and response to bacterium. Located in several cellular components, including apical plasma membrane; endoplasmic reticulum; and extracellular space. Is expressed in urinary system. Used to study familial juvenile hyperuricemic nephropathy and kidney disease. Human ortholog(s) of this gene implicated in familial juvenile hyperuricemic nephropathy. Orthologous to human UMOD (uromodulin).
PHENOTYPE: Homozygous inactivation of this gene causes renal dysfunction and increased susceptibility to bladder infection, and may lead to renal calcinosis and stone formation. Homozygotes for an ENU-induced allele exhibit renal dysfunction and alterations in ureahandling, energy, bone, and lipid metabolism. [provided by MGI curators]
  • synonyms:
  • Umod,
  • Urehd1,
  • uromodulin,
  • MGI:3712266,
  • urehr4,
  • MGD-MRK-19577,
  • MGI:3712276,
  • Tamm-Horsfall glycoprotein,
  • urea phenotype,
  • uromucoid,
  • urea phenotype 4,
  • THP

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

2 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

3 Driver For