| 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 9.1.0) Predicted to enable IgG binding activity. Involved in metanephric nephron tubule development and monoatomic ion homeostasis. Acts upstream of or within with a positive effect on protein phosphorylation. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; kidney development; and response to bacterium. Located in apical plasma membrane. Is active in several cellular components, including cilium; endoplasmic reticulum; and extracellular region. Is expressed in urinary system. Used to study autosomal dominant tubulointerstitial kidney disease and kidney disease. Human ortholog(s) of this gene implicated in autosomal dominant tubulointerstitial kidney disease 1. 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] |
Features --> Cross References
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
