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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AQP7-related condition	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCEROL QUANTITATIVE TRAIT LOCUS	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY (BMIQ17), SUSCEPTIBILITY TO	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11972053		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	37566082	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	22899094	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30863160		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31292488	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37681917	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35245343, 36254092	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23358099		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30226208		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30226208		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29783856	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30598999, 34779127	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29890131		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16487720, 17351148, 17566090, 18401671, 19615702, 20463097, 23001483, 29783856		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	31588962		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27176782, 31062612, 31275413		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	31062612	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	15972966		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	17351148, 21289260		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	21502813	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30226208		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29787773		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32309443	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	17543220		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21502813, 22899094	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	31033595	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25280538	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30863160		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30176851		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	16487720, 28258577, 30598999, 31707553		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30598999	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23358099		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	30144427		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31275413		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	16325777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	16487720, 17351148, 17566090, 18401671, 20463097, 22899094, 23001483, 28489425, 29300344, 29787773, 30226208, 31707553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	21502813, 22899094, 30598999	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	29783856	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	17566090, 18401671, 19615702, 31588962		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21819701	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	30226208		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	20378617, 23235401		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33579525	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30176851		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	22899094	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27176782, 28584298, 31062612, 31275413		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32309443	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric syndrome	Pubtator	20176027	Associate	★☆☆☆☆ Found in Text Mining only