The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein m... See more...

Aliases for AQP9 Gene

Aliases for AQP9 Gene

  • Aquaporin 9 2 3 5
  • Small Solute Channel 1 3 4
  • Aquaglyceroporin-9 3 4
  • Aquaporin-9 3 4
  • AQP-9 3 4
  • SSC1 3 4
  • HsT17287 3
  • T17287 3

External Ids for AQP9 Gene

Previous GeneCards Identifiers for AQP9 Gene

  • GC15P053987
  • GC15P051477
  • GC15P056009
  • GC15P056146
  • GC15P056217
  • GC15P058430
  • GC15P035253

Summaries for AQP9 Gene

Entrez Gene Summary for AQP9 Gene

  • The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for AQP9 Gene

AQP9 (Aquaporin 9) is a Protein Coding gene. Diseases associated with AQP9 include Hydrarthrosis and Polyhydramnios. Among its related pathways are Preimplantation Embryo 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 AQP10.

UniProtKB/Swiss-Prot Summary for AQP9 Gene

  • Forms a water channel with a broad specificity. Also permeable glycerol and urea. Mediates passage of a wide variety of small, non-charged solutes including carbamides, polyols, purines, and pyrimidines.

Tocris Summary for AQP9 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 AQP9 Gene

Additional gene information for AQP9 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP9 Gene

Genomics for AQP9 Gene

GeneHancer (GH) Regulatory Elements for AQP9 Gene

Promoters and enhancers for AQP9 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 AQP9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AQP9

Top Transcription factor binding sites by QIAGEN in the AQP9 gene promoter:
  • AML1a
  • Evi-1
  • FOXD1
  • GATA-1
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2
  • RREB-1
  • SRF
  • SRF (504 AA)

Genomic Locations for AQP9 Gene

Genomic Locations for AQP9 Gene
chr15:58,138,169-58,185,911
(GRCh38/hg38)
Size:
47,743 bases
Orientation:
Plus strand
chr15:58,430,368-58,478,110
(GRCh37/hg19)
Size:
47,743 bases
Orientation:
Plus strand

Genomic View for AQP9 Gene

Genes around AQP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP9 Gene

Proteins for AQP9 Gene

  • Protein details for AQP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43315-AQP9_HUMAN
    Recommended name:
    Aquaporin-9
    Protein Accession:
    O43315
    Secondary Accessions:
    • Q9NP32

    Protein attributes for AQP9 Gene

    Size:
    295 amino acids
    Molecular mass:
    31431 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AQP9 Gene

Post-translational modifications for AQP9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AQP9 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for AQP9

No data available for DME Specific Peptides for AQP9 Gene

Domains & Families for AQP9 Gene

Gene Families for AQP9 Gene

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

Protein Domains for AQP9 Gene

Blocks:
  • MIP family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP9 Gene

GenScript: Design optimal peptide antigens:
  • Small solute channel 1 (AQP9_HUMAN)
  • cDNA, FLJ93715, Homo sapiens aquaporin 9 (AQP9), mRNA (Q6FGT0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43315

UniProtKB/Swiss-Prot:

AQP9_HUMAN :
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (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 (NPA).
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.
genes like me logo Genes that share domains with AQP9: view

Function for AQP9 Gene

Molecular function for AQP9 Gene

UniProtKB/Swiss-Prot Function:
Forms a water channel with a broad specificity. Also permeable glycerol and urea. Mediates passage of a wide variety of small, non-charged solutes including carbamides, polyols, purines, and pyrimidines.

Phenotypes From GWAS Catalog for AQP9 Gene

Gene Ontology (GO) - Molecular Function for AQP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005275 amine transmembrane transporter activity TAS 9733774
GO:0005345 purine nucleobase transmembrane transporter activity IDA 9733774
GO:0005350 pyrimidine nucleobase transmembrane transporter activity IDA 9733774
GO:0005372 water transmembrane transporter activity TAS 9733774
GO:0015166 polyol transmembrane transporter activity TAS 9733774
genes like me logo Genes that share ontologies with AQP9: view
genes like me logo Genes that share phenotypes with AQP9: view

Animal Models for AQP9 Gene

MGI Knock Outs for AQP9:
  • Aqp9 Aqp9<tm1b(KOMP)Wtsi>
  • Aqp9 Aqp9<tm1Nlsn>

Animal Model Products

  • Taconic Biosciences Mouse Models for AQP9

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP9

Clone Products

  • Addgene plasmids for AQP9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for AQP9 Gene

Localization for AQP9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP9 Gene

Cell 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 AQP9 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 AQP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 9514918
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 9733774
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with AQP9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AQP9 Gene

Pathways & Interactions for AQP9 Gene

genes like me logo Genes that share pathways with AQP9: view

Pathways by source for AQP9 Gene

1 KEGG pathway for AQP9 Gene
1 Qiagen pathway for AQP9 Gene
  • eNOS Signaling

SIGNOR curated interactions for AQP9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for AQP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006833 water transport TAS --
GO:0006863 purine nucleobase transport IDA 9733774
GO:0006970 response to osmotic stress TAS 9733774
GO:0007588 excretion TAS 9733774
GO:0010033 response to organic substance IDA 9733774
genes like me logo Genes that share ontologies with AQP9: view

Drugs & Compounds for AQP9 Gene

(5) Drugs for AQP9 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hg<sup>2+</sup> Pharma Inhibitor 0
Phloretin Pharma Inhibitor, Channel blocker, Inhibition A dihydrochalcone found in apple 0

(3) Additional Compounds for AQP9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AQP9: view

Transcripts for AQP9 Gene

mRNA/cDNA for AQP9 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 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 AQP9

Clone Products

  • Addgene plasmids for AQP9

Alternative Splicing Database (ASD) splice patterns (SP) for AQP9 Gene

No ASD Table

Relevant External Links for AQP9 Gene

GeneLoc Exon Structure for
AQP9

Expression for AQP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AQP9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP9 Gene

This gene is overexpressed in Whole Blood (x43.2) and Liver (x5.0).

Protein differential expression in normal tissues from HIPED for AQP9 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (59.1) and Liver (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AQP9 Gene



Protein tissue co-expression partners for AQP9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AQP9

SOURCE GeneReport for Unigene cluster for AQP9 Gene:

Hs.104624

mRNA Expression by UniProt/SwissProt for AQP9 Gene:

O43315-AQP9_HUMAN
Tissue specificity: Highly expressed in peripheral leukocytes. Also expressed in liver, lung, and spleen.

Evidence on tissue expression from TISSUES for AQP9 Gene

  • Liver(4.7)
  • Blood(2.8)
  • Lung(2)
genes like me logo Genes that share expression patterns with AQP9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP9 Gene

Orthologs for AQP9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQP9 31 30
  • 98.87 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AQP9 31 30
  • 90.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AQP9 31 30
  • 87.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp9 30
  • 80.56 (n)
mouse
(Mus musculus)
Mammalia Aqp9 17 31 30
  • 78.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AQP9 31
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQP9 31
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP9 31 30
  • 68.44 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp9 30
  • 63.71 (n)
zebrafish
(Danio rerio)
Actinopterygii aqp9a 30
  • 57.07 (n)
aqp9b 31
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C01G6.1a 32
  • 42 (a)
C01G6.1b 32
  • 42 (a)
Y69E1A.7 32
  • 40 (a)
M02F4.8 32
  • 39 (a)
aqp-2 31
  • 38 (a)
ManyToMany
aqp-7 31
  • 36 (a)
ManyToMany
aqp-1 31
  • 32 (a)
ManyToMany
aqp-8 31
  • 32 (a)
ManyToMany
aqp-3 31
  • 25 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL068W 30
  • 44.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 14 (a)
OneToMany
FPS1 33
thale cress
(Arabidopsis thaliana)
eudicotyledons NIP7;1 30
  • 48.71 (n)
Species where no ortholog for AQP9 was found in the sources mined by GeneCards:
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AQP9 Gene

ENSEMBL:
Gene Tree for AQP9 (if available)
TreeFam:
Gene Tree for AQP9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AQP9: view image

Paralogs for AQP9 Gene

(5) SIMAP similar genes for AQP9 Gene using alignment to 3 proteins:

  • AQP9_HUMAN
  • H0YK62_HUMAN
  • Q6FGT0_HUMAN
genes like me logo Genes that share paralogs with AQP9: view

Variants for AQP9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AQP9 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1867380 - p.Thr279Ala

Additional dbSNP identifiers (rs#s) for AQP9 Gene

Structural Variations from Database of Genomic Variants (DGV) for AQP9 Gene

Variant ID Type Subtype PubMed ID
esv2665821 CNV deletion 23128226
esv3636625 CNV loss 21293372
nsv1047246 CNV gain 25217958
nsv1134452 CNV deletion 24896259
nsv1549 CNV insertion 18451855
nsv1550 CNV insertion 18451855
nsv457172 CNV loss 19166990
nsv569597 CNV loss 21841781
nsv7266 OTHER inversion 18451855
nsv833024 CNV loss 17160897
nsv974582 CNV duplication 23825009

Variation tolerance for AQP9 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQP9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP9 Gene

Disorders for AQP9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for AQP9 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AQP9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AQP9

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 AQP9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AQP9 Gene

Publications for AQP9 Gene

  1. Functional and molecular characterization of the human neutral solute channel aquaporin-9. (PMID: 10564231) Tsukaguchi H … Hediger MA (The American journal of physiology 1999) 3 4 23 54
  2. Cloning and functional expression of a new aquaporin (AQP9) abundantly expressed in the peripheral leukocytes permeable to water and urea, but not to glycerol. (PMID: 9514918) Ishibashi K … Sasaki S (Biochemical and biophysical research communications 1998) 3 4 23 54
  3. Human adipose glycerol flux is regulated by a pH gate in AQP10. (PMID: 30420639) Gotfryd K … Gourdon P (Nature communications 2018) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 41 54

Products for AQP9 Gene

Sources for AQP9 Gene