| Primary Identifier | MGI:88123 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 12000 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling receptor activity. Involved in positive regulation of intracellular signal transduction. Acts upstream of or within response to cytokine. Predicted to be located in endocytic vesicle; endosome; and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; forelimb bud; heart; metanephros; and sensory organ. Used to study X-linked nephrogenic diabetes insipidus and nephrogenic diabetes insipidus. Human ortholog(s) of this gene implicated in X-linked nephrogenic diabetes insipidus; nephrogenic diabetes insipidus; and nephrogenic syndrome of inappropriate antidiuresis. Orthologous to human AVPR2 (arginine vasopressin receptor 2). PHENOTYPE: Homozygous mutation of this gene results in death before 1 week of age and various renal function and metabolic defects, such as increased hematocrit, increased serum sodium and chloride concentration, hypoglycemia, and decreased urine osmolality. [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
