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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
  • Aquaporin-7 3
  • 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 Glycerol Quantitative Trait Locus and Chronic Closed-Angle Glaucoma. Among its related pathways are Aquaporin-mediated transport and Regulation of lipolysis in adipocytes. 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 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

Additional gene information for AQP7 Gene

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

Genomics for AQP7 Gene

GeneHancer (GH) Regulatory Elements for AQP7 Gene

Promoters and enhancers for AQP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I033403 Enhancer 0.9 Ensembl ENCODE 550.8 -0.8 -819 0.6 HDGF ELF3 CTCF ETV1 ARID4B RAD21 CC2D1A GATAD1 VEZF1 SMC3 LOC105376020 PIR43065 AQP7 AQP3
GH09I033402 Promoter 0.5 EPDnew 550.8 +0.1 135 0.1 AQP7 PIR43065 LOC105376020
GH09I033442 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.3 -42.7 -42710 6.2 FOXA2 PKNOX1 MLX ARID4B SIN3A YY1 ZNF766 FOS DEK NFYC AQP3 AQP7 NOL6 PTENP1 NFX1 BAG1 SMU1 PIR43065
GH09I033455 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.5 -55.2 -55227 4.1 BATF IRF4 ELK1 RCOR1 ETV6 FOS RUNX3 ELK4 USF2 JUNB AQP7 NOL6 AQP3 LOC105376020 BAG1 CHMP5 SUGT1P1 PTENP1 GC09P033453 MIR6851
GH09I033434 Enhancer 0.8 ENCODE dbSUPER 22.5 -33.1 -33054 1.7 BCOR KLF1 ZFP64 CEBPB KLF17 ZMYM3 CEBPG NR2F2 HDAC2 IKZF1 AQP7 AQP3 PIR43065
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AQP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AQP7 gene promoter:

Genomic Locations for AQP7 Gene

Genomic Locations for AQP7 Gene
chr9:33,383,179-33,402,682
(GRCh38/hg38)
Size:
19,504 bases
Orientation:
Minus strand
chr9:33,384,765-33,402,643
(GRCh37/hg19)

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

Post-translational modifications for AQP7 Gene

No Post-translational modifications

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

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.

Phenotypes From GWAS Catalog for AQP7 Gene

Gene Ontology (GO) - Molecular Function for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015250 water channel activity TAS,EXP 1373524
GO:0015254 glycerol channel activity EXP,TAS 9369468
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

CRISPR Products

Inhibitory RNA Products

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

Membrane; Multi-pass membrane protein.

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
mitochondrion 2
extracellular 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18718702
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9405233
GO:0005911 cell-cell junction IDA 18718702
GO:0016020 membrane IEA --
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

Gene Ontology (GO) - Biological Process for AQP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 9405233
GO:0006810 transport IEA --
GO:0006833 water transport TAS --
GO:0007588 excretion TAS 9405233
GO:0015793 glycerol transport TAS --
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: DGIdb, IUPHAR, and Novoseek

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for AQP7 Gene



Protein tissue co-expression partners for AQP7 Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP7 Gene:

AQP7

SOURCE GeneReport for Unigene cluster for AQP7 Gene:

Hs.455323

Evidence on tissue expression from TISSUES for AQP7 Gene

  • Muscle(4.5)
  • Nervous system(3.6)
  • Heart(2.6)
  • Kidney(2.5)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with AQP7: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and 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 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQP7 33 34
  • 80.65 (n)
rat
(Rattus norvegicus)
Mammalia Aqp7 33
  • 79.29 (n)
mouse
(Mus musculus)
Mammalia Aqp7 33 16 34
  • 78.45 (n)
cow
(Bos Taurus)
Mammalia AQP7 33 34
  • 78.05 (n)
oppossum
(Monodelphis domestica)
Mammalia AQP7 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AQP7 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP7 33 34
  • 63.29 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 53 (a)
OneToMany
-- 34
  • 38 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp7 33
  • 57.76 (n)
zebrafish
(Danio rerio)
Actinopterygii aqp7 33 34
  • 59.81 (n)
worm
(Caenorhabditis elegans)
Secernentea Y69E1A.7 35
  • 38 (a)
M02F4.8 35
  • 36 (a)
aqp-2 34
  • 36 (a)
ManyToMany
aqp-7 34
  • 31 (a)
ManyToMany
aqp-1 34
  • 30 (a)
ManyToMany
aqp-8 34
  • 30 (a)
ManyToMany
aqp-3 34
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 17 (a)
OneToMany
Species where no ortholog for AQP7 was found in the sources mined by GeneCards:
  • 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

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 from dbSNP and Humsavar for AQP7 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs62542743 affects, Glycerol release during exercise, defective 33,385,243(-) C/A 3_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs114484742 benign, not specified 33,385,752(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs117663392 benign, not specified 33,385,773(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs139024279 benign, not specified 33,385,692(-) G/A/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs201773300 benign, not specified 33,385,742(-) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Disorders for AQP7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glycerol quantitative trait locus
  • glycqtl
chronic closed-angle glaucoma
  • anatomical narrow angle glaucoma
meniere disease
  • meniere's disease
body mass index quantitative trait locus 11
  • bmiq11
- 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
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 22 58
  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 22 58
  3. 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 (Metabolism: clinical and experimental 2009) 3 22 58
  4. Influence of morbid obesity and insulin resistance on gene expression levels of AQP7 in visceral adipose tissue and AQP9 in liver. (PMID: 18401671) Catalán V … Frühbeck G (Obesity surgery 2008) 3 22 58
  5. A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities. (PMID: 17351148) Prudente S … Trischitta V (Diabetes 2007) 3 44 58

Products for AQP7 Gene

Sources for AQP7 Gene

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