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 adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded p... See more...

Aliases for AQP7 Gene

Aliases for AQP7 Gene

  • Aquaporin 7 2 3 5
  • AQPap 2 3 4
  • Aquaglyceroporin-7 3 4
  • Aquaporin Adipose 3 4
  • Aquaporin-7 3 4
  • AQP7L 3 4
  • AQP9 2 4
  • Aquaporin-7-Like 4
  • GLYCQTL 3
  • AQP-7 4
  • AQP7 5

External Ids for AQP7 Gene

Previous HGNC Symbols for AQP7 Gene

  • AQP7L

Previous GeneCards Identifiers for AQP7 Gene

  • GC09M033697
  • GC09M033554
  • GC09M033374
  • GC09M033341

Summaries for AQP7 Gene

Entrez Gene Summary for AQP7 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 adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]

GeneCards Summary for AQP7 Gene

AQP7 (Aquaporin 7) is a Protein Coding gene. Diseases associated with AQP7 include Glycerol Quantitative Trait Locus and Body Mass Index Quantitative Trait Locus 11. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Aquaporin-mediated transport. Gene Ontology (GO) annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is LOC100509620.

UniProtKB/Swiss-Prot Summary for AQP7 Gene

  • Forms a channel that mediates water and glycerol transport across cell membranes at neutral pH (PubMed:9405233, PubMed:11952783, PubMed:30423801, PubMed:30420639). The channel is also permeable to urea (PubMed:9405233). Plays an important role in body energy homeostasis under conditions that promote lipid catabolism, giving rise to glycerol and free fatty acids. Mediates glycerol export from adipocytes. After release into the blood stream, glycerol is used for gluconeogenesis in the liver to maintain normal blood glucose levels and prevent fasting hypoglycemia. Required for normal glycerol reabsorption in the kidney (By similarity).

Tocris Summary for AQP7 Gene

  • Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.

Gene Wiki entry for AQP7 Gene

Additional gene information for AQP7 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP7 Gene

Genomics for AQP7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AQP7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AQP7

Top Transcription factor binding sites by QIAGEN in the AQP7 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • E47
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-1
  • Pax-4a
  • Tal-1beta
  • ZID

Genomic Locations for AQP7 Gene

Genomic Locations for AQP7 Gene
chr9:33,383,135-33,402,682
(GRCh38/hg38)
Size:
19,548 bases
Orientation:
Minus strand
chr9:33,384,765-33,402,643
(GRCh37/hg19)
Size:
17,879 bases
Orientation:
Minus strand

Genomic View for AQP7 Gene

Genes around AQP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP7 Gene

Proteins for AQP7 Gene

  • Protein details for AQP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14520-AQP7_HUMAN
    Recommended name:
    Aquaporin-7
    Protein Accession:
    O14520
    Secondary Accessions:
    • Q08E94
    • Q5T5L9
    • Q8NHM3

    Protein attributes for AQP7 Gene

    Size:
    342 amino acids
    Molecular mass:
    37232 Da
    Quaternary structure:
    • Homotetramer (Probable). Interacts (via N-terminus) with PLIN1 (PubMed:27832861).

    Three dimensional structures from OCA and Proteopedia for AQP7 Gene

    Alternative splice isoforms for AQP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AQP7 Gene

Post-translational modifications for AQP7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AQP7 Gene

Domains & Families for AQP7 Gene

Gene Families for AQP7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for AQP7 Gene

InterPro:
Blocks:
  • MIP family
ProtoNet:

Suggested Antigen Peptide Sequences for AQP7 Gene

GenScript: Design optimal peptide antigens:
  • Aquaporin-7-like (AQP7_HUMAN)
  • cDNA FLJ60727, highly similar to Aquaporin-7 (B7Z4U2_HUMAN)
  • cDNA FLJ51136, weakly similar to Aquaporin-7 (B7Z7F6_HUMAN)
  • cDNA, FLJ79528, highly similar to Aquaporin-7 (Q08E94_HUMAN)
  • Aquaporin 7 (Q5T5L4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14520

UniProtKB/Swiss-Prot:

AQP7_HUMAN :
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro/Ala-Ala/Ser (NPA).
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
Domain:
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro/Ala-Ala/Ser (NPA).
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
genes like me logo Genes that share domains with AQP7: view

Function for AQP7 Gene

Molecular function for AQP7 Gene

UniProtKB/Swiss-Prot Function:
Forms a channel that mediates water and glycerol transport across cell membranes at neutral pH (PubMed:9405233, PubMed:11952783, PubMed:30423801, PubMed:30420639). The channel is also permeable to urea (PubMed:9405233). Plays an important role in body energy homeostasis under conditions that promote lipid catabolism, giving rise to glycerol and free fatty acids. Mediates glycerol export from adipocytes. After release into the blood stream, glycerol is used for gluconeogenesis in the liver to maintain normal blood glucose levels and prevent fasting hypoglycemia. Required for normal glycerol reabsorption in the kidney (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by mercury ions (PubMed:9405233). Fully active at pH 6.5 to 7.5. Activity decreases with decreasing pH. Inactive at pH 5.5 (PubMed:30423801, PubMed:30420639).
GENATLAS Biochemistry:
aquaporin 7,water channel forming integral protein,MIP family,expressed in the testis,putatively involved in the formation of late spermatids,also expressed in kidney

Phenotypes From GWAS Catalog for AQP7 Gene

Gene Ontology (GO) - Molecular Function for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015204 urea transmembrane transporter activity IBA 21873635
GO:0015250 water channel activity IDA 11952783
GO:0015254 glycerol channel activity EXP,IDA 11952783
GO:0015267 channel activity IEA --
genes like me logo Genes that share ontologies with AQP7: view
genes like me logo Genes that share phenotypes with AQP7: view

Animal Models for AQP7 Gene

MGI Knock Outs for AQP7:

Animal Model Products

  • Taconic Biosciences Mouse Models for AQP7

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AQP7 Gene

Localization for AQP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP7 Gene

Cell membrane. Multi-pass membrane protein. Cytoplasm, cell cortex. Cytoplasmic vesicle membrane. Multi-pass membrane protein. Lipid droplet. Note=Internalized from the cell membrane in response to catecholamine-induced activation of PKA; detected on intracellular membranes and colocalizes with lipid droplets (By similarity). Colocalizes with PLIN1 in adipocytes, probably on lipid droplets (PubMed:27832861). {ECO:0000250 UniProtKB:O54794, ECO:0000269 PubMed:27832861}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AQP7 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 18718702
GO:0005811 lipid droplet IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 11952783
GO:0005911 cell-cell junction IDA 18718702
genes like me logo Genes that share ontologies with AQP7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AQP7 Gene

Pathways & Interactions for AQP7 Gene

genes like me logo Genes that share pathways with AQP7: view

Pathways by source for AQP7 Gene

Gene Ontology (GO) - Biological Process for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006833 water transport TAS --
GO:0015793 glycerol transport TAS --
GO:0055085 transmembrane transport IEA --
GO:0071918 urea transmembrane transport IEA --
genes like me logo Genes that share ontologies with AQP7: view

No data available for SIGNOR curated interactions for AQP7 Gene

Drugs & Compounds for AQP7 Gene

(3) Drugs for AQP7 Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma Transporter 197
Hg<sup>2+</sup> Pharma Inhibitor 0
genes like me logo Genes that share compounds with AQP7: view

Transcripts for AQP7 Gene

mRNA/cDNA for AQP7 Gene

7 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP7

Alternative Splicing Database (ASD) splice patterns (SP) for AQP7 Gene

No ASD Table

Relevant External Links for AQP7 Gene

GeneLoc Exon Structure for
AQP7

Expression for AQP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AQP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP7 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x12.2), Adipose - Subcutaneous (x9.0), Heart - Left Ventricle (x7.5), and Breast - Mammary Tissue (x6.1).

Protein differential expression in normal tissues from HIPED for AQP7 Gene

This gene is overexpressed in Testis (23.3), Fetal ovary (10.8), Urine (9.6), Heart (8.6), Fetal gut (6.9), and Ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AQP7 Gene



Protein tissue co-expression partners for AQP7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AQP7

SOURCE GeneReport for Unigene cluster for AQP7 Gene:

Hs.455323

mRNA Expression by UniProt/SwissProt for AQP7 Gene:

O14520-AQP7_HUMAN
Tissue specificity: Detected in the sperm head (at protein level) (PubMed:28042826). Detected in white adipose tissue (PubMed:9405233).

Evidence on tissue expression from TISSUES for AQP7 Gene

  • Muscle(4.6)
  • Nervous system(3.9)
  • Heart(3.1)
  • Kidney(2.9)
  • Liver(2.7)
  • Blood(2.4)
  • Intestine(2.3)
  • Skin(2.1)
  • Pancreas(2.1)
  • Stomach(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with AQP7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP7 Gene

Orthologs for AQP7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AQP7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AQP7 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia AQP7 30 31
  • 80.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aqp7 30
  • 79.29 (n)
Mouse
(Mus musculus)
Mammalia Aqp7 30 17 31
  • 78.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AQP7 30 31
  • 78.05 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AQP7 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AQP7 31
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AQP7 30 31
  • 63.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 53 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aqp7 30
  • 57.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii aqp7 30 31
  • 59.81 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y69E1A.7 32
  • 38 (a)
aqp-2 31
  • 36 (a)
ManyToMany
M02F4.8 32
  • 36 (a)
aqp-7 31
  • 31 (a)
ManyToMany
aqp-1 31
  • 30 (a)
ManyToMany
aqp-8 31
  • 30 (a)
ManyToMany
aqp-3 31
  • 25 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 17 (a)
OneToMany
Species where no ortholog for AQP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AQP7 Gene

ENSEMBL:
Gene Tree for AQP7 (if available)
TreeFam:
Gene Tree for AQP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AQP7: view image

Paralogs for AQP7 Gene

(5) SIMAP similar genes for AQP7 Gene using alignment to 10 proteins:

  • AQP7_HUMAN
  • B7Z4U2_HUMAN
  • B7Z7F6_HUMAN
  • Q08E94_HUMAN
  • Q5T5L3_HUMAN
  • Q5T5L4_HUMAN
  • Q5T5L5_HUMAN
  • Q5T5M0_HUMAN
  • Q5T5M1_HUMAN
  • Q6P5T0_HUMAN
genes like me logo Genes that share paralogs with AQP7: view

Variants for AQP7 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AQP7 Gene

AQP7_HUMAN-O14520
Genetic variations in AQP7 are responsible for changes in glycerol release during exercise and define the glycerol quantitative trait locus (GLYCQTL) [MIM:614411].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AQP7 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs114484742 Benign: not specified 33,385,752(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs117663392 Benign: not specified 33,385,773(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs139024279 Benign: not specified 33,385,692(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs201773300 Benign: not specified 33,385,742(-) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs62542743 Affects: Glycerol release during exercise, defective. - 33,385,243(-) C/Ap.Gly264Val MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AQP7 Gene

Structural Variations from Database of Genomic Variants (DGV) for AQP7 Gene

Variant ID Type Subtype PubMed ID
dgv7517n100 CNV gain 25217958
esv3576648 CNV gain 25503493
nsv1024207 CNV gain 25217958
nsv1078056 CNV duplication 25765185
nsv1110520 CNV duplication 24896259
nsv1139949 CNV duplication 24896259
nsv1146331 CNV duplication 26484159
nsv482129 CNV gain 20164927
nsv614146 CNV gain 21841781
nsv8439 CNV loss 18304495
nsv972661 CNV duplication 23825009

Variation tolerance for AQP7 Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQP7 Gene

Human Gene Mutation Database (HGMD)
AQP7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP7

SNP Genotyping and Copy Number Assay Products

Disorders for AQP7 Gene

MalaCards: The human disease database

(10) MalaCards diseases for AQP7 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AQP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AQP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AQP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AQP7 Gene

Publications for AQP7 Gene

  1. Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes. (PMID: 17566090) Ceperuelo-Mallafré V … Vendrell J (The Journal of clinical endocrinology and metabolism 2007) 3 4 23
  2. Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation. (PMID: 11952783) Kondo H … Matsuzawa Y (European journal of biochemistry 2002) 3 4 23
  3. Human adipose glycerol flux is regulated by a pH gate in AQP10. (PMID: 30420639) Gotfryd K … Gourdon P (Nature communications 2018) 3 4
  4. Aquaporin-Mediated Water and Hydrogen Peroxide Transport Is Involved in Normal Human Spermatozoa Functioning. (PMID: 28042826) Laforenza U … Gastaldi G (International journal of molecular sciences 2016) 3 4
  5. Perilipin 1 binds to aquaporin 7 in human adipocytes and controls its mobility via protein kinase A mediated phosphorylation. (PMID: 27832861) Hansen JS … Lindkvist-Petersson K (Metabolism: clinical and experimental 2016) 3 4

Products for AQP7 Gene

Sources for AQP7 Gene