The AQP2 gene homepage

General information
Gene symbol AQP2
Gene name aquaporin 2 (collecting duct)
Chromosome 12
Chromosomal band q12-q13
Imprinted Unknown
Genomic reference LRG_717
Transcript reference NM_000486.5
Exon/intron information NM_000486.5 exon/intron table
Associated with diseases diabetes
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Mary Fujiwara
Total number of public variants reported 20
Unique public DNA variants reported 16
Individuals with public variants 226
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 15, 2020
Version AQP2:200915

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
Homepage URL
HGNC 634
Entrez Gene 359
PubMed articles AQP2
OMIM - Gene 107777
OMIM - Diseases diabetes (diabetes insipidus, nephrogenic, autosomal)
GeneCards AQP2
GeneTests AQP2
Orphanet AQP2

Active transcripts




NCBI ID     

NCBI Protein ID     

00002724 12 aquaporin 2 (collecting duct) NM_000486.5 NP_000477.1 20

Copyright & disclaimer
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