AQP7 (aquaporin 7)

Gene

• Entrez ID: 364
• Gene name: Aquaporin 7
• Gene symbol: AQP7
• Synonyms (NCBI Gene): AQP7L, AQPap, GLYCQTL
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: 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

SNPs

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

Gene ontology (GO)

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

Other IDs

• MIM: 602974
• HGNC: 640
• e!Ensembl: 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

Pathways

KEGG:

PPAR signaling pathway
Regulation of lipolysis in adipocytes

Reactome:

Transport of glycerol from adipocytes to the liver by Aquaporins
Passive transport by Aquaporins

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
AQP7-related condition	Conflicting classifications of pathogenicity	rs139024279	RCV005365298
Cervical cancer	Affects	rs62542743	RCV005887334
Colon adenocarcinoma	Affects	rs62542743	RCV005887333
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2381004	RCV004557739
GLYCEROL QUANTITATIVE TRAIT LOCUS	Affects	rs62542743	RCV000023224
OBESITY (BMIQ17), SUSCEPTIBILITY TO	risk factor	rs2989924	RCV000029131

Associations from Text Mining
Disease Name	Relationship Type	References
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