Gene table of AQP2 : aquaporin 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with AQP2	OMIM link	Number of associated genes	genes
125800	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL	OMIM, HUMSAVAR	link to OMIM	1	AQP2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Vasopressin-regulated water reabsorption	hsa04962	7.18

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Vasopressin regulates renal water homeostasis via Aquaporins	R-HSA-432040	7.56
Passive transport by Aquaporins	R-HSA-432047	9.4
Aquaporin-mediated transport	R-HSA-445717	7.31
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
transmembrane transporter activity	GO:0022857	2.82
substrate-specific channel activity	GO:0022838	3.67
carbohydrate transporter activity	GO:1901476	5.95
transporter activity	GO:0005215	2.57
water transmembrane transporter activity	GO:0005372	6.97
alcohol transmembrane transporter activity	GO:0015665	6.97
water channel activity	GO:0015250	7.03
organic hydroxy compound transmembrane transporter activity	GO:1901618	6.02
channel activity	GO:0015267	3.6
polyol transmembrane transporter activity	GO:0015166	6.97
passive transmembrane transporter activity	GO:0022803	3.6
glycerol transmembrane transporter activity	GO:0015168	7.17
carbohydrate transmembrane transporter activity	GO:0015144	5.95
glycerol channel activity	GO:0015254	7.17