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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 nameGene Name - the full gene name approved by the HGNC.
Aquaporin 7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AQP7
SynonymsGene synonyms aliases
AQP7L, AQPap, GLYCQTL
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
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 IDsOther 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
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
Sequence
Sequence length 342
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Obesity Obesity rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 16325777

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