| Primary Identifier | MGI:101924 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 20496 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables potassium ion transmembrane transporter activity. Involved in several processes, including cellular response to lipopolysaccharide; cellular response to potassium ion; and inorganic ion import across plasma membrane. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; mammary gland duct morphogenesis; and regulation of secretion by cell. Located in apical plasma membrane; basolateral plasma membrane; and neuronal cell body. Is expressed in several structures, including alimentary system; lung; metanephros; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78. Orthologous to human SLC12A2 (solute carrier family 12 member 2). PHENOTYPE: Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality. [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
