Gene

Avpr2

Species
Mus musculus
Symbol
Avpr2
Name
arginine vasopressin receptor 2
Synonyms
  • DI1
  • ND1
Biotype
protein coding gene
Automated Description
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).
MGI Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24241
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
72.9355M72.9360M72.9365M72.9370M72.9375M72.9380M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions