AQP7 (aquaporin 7)

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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IDA 18718702
GO:0005811 Component Lipid droplet IEA
GO:0005886 Component Plasma membrane IDA 18718702
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IDA 11952783
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602974 640 ENSG00000165269
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 342
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  PPAR signaling pathway
Regulation of lipolysis in adipocytes 		  Transport of glycerol from adipocytes to the liver by Aquaporins
Passive transport by Aquaporins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)		 16325777
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Mental Depression Mental Depression GWAS
Lung adenocarcinoma Lung adenocarcinoma Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors GWAS, CBGDA
Dermatitis Dermatitis GWAS
Show/Hide Text Mining Associations (30)
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