| Primary Identifier | MGI:1917097 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 69847 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chloride ion binding activity; ion channel inhibitor activity; and protein serine/threonine kinase activity. Involved in several processes, including ERK1 and ERK2 cascade; metal ion transport; and regulation of protein kinase activity. Acts upstream of or within chloride transport; negative regulation of pancreatic juice secretion; and protein localization. Located in bicellular tight junction and cytoplasm. Part of protein-containing complex. Is active in cell body. Is expressed in several structures, including alimentary system; metanephros; metatarsal bone; sensory organ; and turbinate bone primordium. Used to study Gitelman syndrome and pseudohypoaldosteronism. Human ortholog(s) of this gene implicated in hypertension and pseudohypoaldosteronism. Orthologous to human WNK4 (WNK lysine deficient protein kinase 4). PHENOTYPE: Mice homozygous for a null allele display increased Na+, K+ and Cl- urinary excretion, alkalosis and decreased plasma Cl-, K+, Mg2+ and renin levels. Mice homozygous for a point mutation exhibit acidosis, hypertension, increased circulating potassium levels and decreased potassium excretion. [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
