Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AQP7 Gene

Aliases for AQP7 Gene

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

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 chronic closed-angle glaucoma and meniere's disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. GO annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is LOC102724922.

UniProtKB/Swiss-Prot for AQP7 Gene

  • Forms a channel for water and glycerol.

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP7 Gene

Genomics for AQP7 Gene

Regulatory Elements for AQP7 Gene

Genomic Location for AQP7 Gene

Chromosome:
9
Start:
33,383,179 bp from pter
End:
33,402,682 bp from pter
Size:
19,504 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:
    No Data Available

    Alternative splice isoforms for AQP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AQP7 Gene

Proteomics data for AQP7 Gene at MOPED

Post-translational modifications for AQP7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for AQP7 Gene

Domains & Families for AQP7 Gene

Gene Families for AQP7 Gene

HGNC:
IUPHAR :

Protein Domains for AQP7 Gene

InterPro:
Blocks:
ProtoNet:

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

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
UniProtKB/Swiss-Prot Function:
Forms a channel for water and glycerol.
genes like me logo Genes that share phenotypes with AQP7: view

Animal Models for AQP7 Gene

MGI Knock Outs for AQP7:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AQP7 Gene COMPARTMENTS Subcellular localization image for AQP7 gene
Compartment Confidence
extracellular 5
plasma membrane 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AQP7: view

Pathways & Interactions for AQP7 Gene

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

Interacting Proteins for AQP7 Gene

Gene Ontology (GO) - Biological Process for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015793 glycerol transport TAS --
GO:0055085 transmembrane transport TAS --
GO:0071918 urea transmembrane transport IBA --
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: Novoseek, IUPHAR, and DGIdb

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

Transcripts for AQP7 Gene

Unigene Clusters for AQP7 Gene

Aquaporin 7:
Representative Sequences:

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

No ASD Table

Relevant External Links for AQP7 Gene

GeneLoc Exon Structure for
AQP7
ECgene alternative splicing isoforms for
AQP7

Expression for AQP7 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for AQP7 Gene



SOURCE GeneReport for Unigene cluster for AQP7 Gene Hs.455323

genes like me logo Genes that share expression patterns with AQP7: view

Protein tissue co-expression partners for AQP7 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia AQP7 35
  • 78.05 (n)
  • 71.34 (a)
AQP7 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQP7 35
  • 80.65 (n)
  • 73.61 (a)
AQP7 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp7 35
  • 78.45 (n)
  • 76.33 (a)
Aqp7 16
Aqp7 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp7 35
  • 79.29 (n)
  • 76.89 (a)
oppossum
(Monodelphis domestica)
Mammalia AQP7 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AQP7 36
  • 40 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AQP7 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP7 35
  • 63.29 (n)
  • 59.14 (a)
AQP7 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp7 35
  • 57.76 (n)
  • 54.15 (a)
zebrafish
(Danio rerio)
Actinopterygii aqp7 35
  • 59.81 (n)
  • 55.24 (a)
aqp7 36
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea M02F4.8 37
  • 36 (a)
Y69E1A.7 37
  • 38 (a)
aqp-1 36
  • 30 (a)
ManyToMany
aqp-2 36
  • 36 (a)
ManyToMany
aqp-3 36
  • 25 (a)
ManyToMany
aqp-7 36
  • 31 (a)
ManyToMany
aqp-8 36
  • 30 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 17 (a)
OneToMany
Species with no ortholog for AQP7:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for AQP7 Gene

Paralogs for AQP7 Gene

Pseudogenes.org Pseudogenes for AQP7 Gene

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

Variants for AQP7 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AQP7 Gene

O14520-AQP7_HUMAN
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 from dbSNP and Humsavar for AQP7 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2381003 - 33,395,110(+) GGCCA(A/C/G/T)GAACT intron-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs4008658 - 33,387,049(+) CATAT(G/T)TTTTA reference, missense
rs139297434 - 33,395,188(+) GCCAC(A/G)GGTGG intron-variant, upstream-variant-2KB, reference, missense
rs4008659 - 33,387,062(+) TAGAA(C/G)CATAT reference, missense
rs62542743 - 33,385,243(+) AGGCA(A/C)CCAGA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv8439 CNV Loss 18304495
nsv482129 CNV Gain 20164927

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)

Relevant External Links for AQP7 Gene

HapMap Linkage Disequilibrium report
AQP7
Human Gene Mutation Database (HGMD)
AQP7

Disorders for AQP7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AQP7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chronic closed-angle glaucoma
  • anatomical narrow angle glaucoma
meniere's disease
  • meniere disease
morbid obesity
  • severe obesity
diabetes insipidus, nephrogenic
  • nephrogenic diabetes insipidus
- elite association - COSMIC cancer census association via MalaCards
Search AQP7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AQP7

Genetic Association Database (GAD)
AQP7
Human Genome Epidemiology (HuGE) Navigator
AQP7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP7
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-Mallafre V. … Vendrell J. (J. Clin. Endocrinol. Metab. 2007) 3 4 23 67
  2. Gene expression of paired abdominal adipose AQP7 and liver AQP9 in patients with morbid obesity: relationship with glucose abnormalities. (PMID: 19615702) Miranda M. … Vendrell J. (Metab. Clin. Exp. 2009) 3 23
  3. Influence of morbid obesity and insulin resistance on gene expression levels of AQP7 in visceral adipose tissue and AQP9 in liver. (PMID: 18401671) CatalA!n V. … FrA1hbeck G. (Obes Surg 2008) 3 23
  4. Differential expression of aquaporin 7 in adipose tissue of lean and obese high fat consumers. (PMID: 16325777) Marrades M.P. … Moreno-Aliaga M.J. (Biochem. Biophys. Res. Commun. 2006) 3 23
  5. Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation. (PMID: 11952783) Kondo H. … Matsuzawa Y. (Eur. J. Biochem. 2002) 3 23

Products for AQP7 Gene

Sources for AQP7 Gene

Back to Top

Content