Gene: AQP2

Alternate names for this Gene: AQP-CD|WCH-CD

Gene Summary: This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: aquaporin 2

Type of Gene: protein-coding

Gene: LOC101927318

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs11169225 in AQP2;LOC101927318 gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs11169225 in AQP2;LOC101927318 gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs104894330 in AQP2;LOC101927318 gene and Nephrogenic Diabetes Insipidus, Type II PMID 9550615 1998 Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.

PMID 9402087 1997 Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

PMID 9649557 1998 An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

PMID 9745427 1998 Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

PMID 16845277 2006 Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

PMID 19701945 2009 Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

PMID 24944815 2014 Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

PMID 7524315 1994 Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

PMID 9302264 1997 Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.

PMID 19585583 2009 p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

PMID 8882880 1996 Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.

PMID 9048343 1997 New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.

PMID 12191971 2002 Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

PMID 16120822 2005 Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.

PMID 8140421 1994 Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.

PMID 12050236 2002 Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.

PMID 16361827 2005 Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

PMID 15509592 2004 A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.