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FLASH GENE
Symbol AVPR2 contributors: npt/mct/pgu - updated : 02-04-2012
HGNC name arginine vasopressin receptor 2
HGNC id 897
ASSOCIATED DISORDERS
corresponding disease(s) DIR1 , SIADH
related resource Neprhogenic diabetes Insipidus
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
contiguous gene syndrome encompassing L1CAM, in patients with congenital hydrocephalus and diabetes insipidus
constitutional   deletion    
contiguous gene syndrome of severe combined immunodeficiency and nephrogenic diabetes insipidus in Xq28 deletion encompassing ARHGAP4 and ARD1A
constitutional       gain of function
gain of basal functionals may contribute to the increased urine concentration abilities and, therefore, provide an advantage to maintain water and electrolyte homeostasis under limited water supply conditions
constitutional     --over  
significantly higher in the inner ear Meniere patients
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS