Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	364
Gene name Gene Name - the full gene name approved by the HGNC.	Aquaporin 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AQP7
Synonyms (NCBI Gene) Gene synonyms aliases	AQP7L, AQPap, GLYCQTL
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipo

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs62542743	C>A	Affects	Non coding transcript variant, intron variant, missense variant, coding sequence variant, 3 prime UTR variant

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27832861
GO:0005737	Component	Cytoplasm	IDA	18718702
GO:0005811	Component	Lipid droplet	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11952783, 18718702
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	18718702
GO:0006833	Process	Water transport	IBA
GO:0006833	Process	Water transport	IDA	11952783, 30420639
GO:0015204	Function	Urea transmembrane transporter activity	IBA
GO:0015204	Function	Urea transmembrane transporter activity	IDA	9405233
GO:0015250	Function	Water channel activity	IBA
GO:0015250	Function	Water channel activity	IDA	9405233, 11952783, 30420639
GO:0015250	Function	Water channel activity	IEA
GO:0015254	Function	Glycerol channel activity	EXP	9405233
GO:0015254	Function	Glycerol channel activity	IBA
GO:0015254	Function	Glycerol channel activity	IDA	11952783, 30420639
GO:0015254	Function	Glycerol channel activity	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015793	Process	Glycerol transmembrane transport	IBA
GO:0015793	Process	Glycerol transmembrane transport	IDA	11952783, 30420639
GO:0015793	Process	Glycerol transmembrane transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071918	Process	Urea transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602974	640	ENSG00000165269

Protein

UniProt ID

O14520

Protein name

Aquaporin-7 (AQP-7) (Aquaglyceroporin-7) (Aquaporin adipose) (AQPap) (Aquaporin-7-like)

Protein function

Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PubMed:11952783, PubMed:30420639, PubMed:30423801, PubM

PDB

6KXW , 6N1G , 6QZI , 6QZJ , 8AMW , 8AMX , 8C9H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00230	MIP	27 → 272	Major intrinsic protein	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in the sperm head (at protein level) (PubMed:28042826). Detected in white adipose tissue (PubMed:9405233). {ECO:0000269|PubMed:28042826, ECO:0000269|PubMed:9405233}.

Sequence

MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVL
NKKYGSYLGVNLGFGFGVTMGVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVYVLGQF
LGSFLAAATIYSLFYTAILHFSGGQLMVTGPVATAGIFATYLPDHMTLWRGFLNEAWLTG
MLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAINPSRDLPPRIFTFIA
GWGKQVFSNGENWWWVPVVAPLLGAYLGGIIYLVFIGSTIPREPLKLEDSVAYEDHGITV
LPKMGSHEPTISPLTPVSVSPANRSSVHPAPPLHESMALEHF

Sequence length

342

Interactions

View interactions

	KEGG		Reactome
	PPAR signaling pathway Regulation of lipolysis in adipocytes		Transport of glycerol from adipocytes to the liver by Aquaporins Passive transport by Aquaporins

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Lung adenocarcinoma	Lung adenocarcinoma, Lung adenocarcinoma (conditioned on cigarettes per day)	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Obesity	OBESITY (BMIQ17), SUSCEPTIBILITY TO	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Asthenozoospermia	Associate	37566082
Blood Platelet Disorders	Associate	22899094
Breast Neoplasms	Inhibit	31292488
Breast Neoplasms	Associate	37681917
Carcinoma Renal Cell	Associate	35245343, 36254092
Diabetes Mellitus Type 2	Stimulate	29783856
Diabetes Mellitus Type 2	Associate	30598999, 34779127
Fatty Liver	Associate	31062612
Heat Stress Disorders	Associate	25280538
Hyperglycemia	Associate	21502813
Hypertension	Associate	32309443
Insulin Resistance	Associate	21502813, 22899094
Irritable Bowel Syndrome	Stimulate	31033595
Ischemia	Associate	21609198
Liver Failure	Associate	25280538
Lymphoma Non Hodgkin	Associate	33550903
Macular Edema	Associate	35528520
Mental Disorders	Associate	22899094
Metabolic Diseases	Associate	30598999
Neoplasms	Associate	28854272
Neoplasms Adipose Tissue	Associate	23382902, 25541553
Obesity	Associate	21502813, 22899094, 30598999
Obesity	Stimulate	29783856
Ovarian Neoplasms	Associate	21819701
Overweight	Associate	30598999, 32309443
Platelet granule deficiency disorder	Associate	22899094
Polycystic Ovary Syndrome	Associate	33579525
Psychomotor Disorders	Associate	22899094
Stroke	Associate	32309443
Trichohepatoenteric Syndrome	Associate	20176027

AQP7 (aquaporin 7)