Gene table of AQP5 : aquaporin 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with AQP5	OMIM link	Number of associated genes	genes
600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	AQP5

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
Salivary secretion	hsa04970	6.23

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
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
glycerol channel activity	GO:0015254	7.17
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
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
passive transmembrane transporter activity	GO:0022803	3.6
glycerol transmembrane transporter activity	GO:0015168	7.17
carbohydrate transmembrane transporter activity	GO:0015144	5.95
polyol transmembrane transporter activity	GO:0015166	6.97