View AQP2 gene homepage

General information
Gene symbol AQP2
Gene name aquaporin 2
Chromosome 12
Chromosomal band q13.12
Imprinted Unknown
Genomic reference LRG_717
Transcript reference NM_000486.5
Exon/intron information NM_000486.5 exon/intron table
Associated with diseases NDI-AQP2
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (3) Mary Fujiwara, Dr. Daniel Bichet and Marie-Fran├žoise Arthus
Total number of public variants reported 66
Unique public DNA variants reported 43
Individuals with public variants 45
Hidden variants 0
Date created February 21, 2018
Date last updated June 13, 2018
Version AQP2:180613

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000486.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 634
Entrez Gene 359
PubMed articles AQP2
OMIM - Gene 107777
OMIM - Diseases NDI-AQP2 (Nephrogenic diabetes insipidus)
HGMD AQP2
GeneCards AQP2
GeneTests AQP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000002 12 aquaporin 2 (collecting duct) NM_000486.5 NP_000477.1 66


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