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Aliases for AQP9 Gene

Aliases for AQP9 Gene

  • Aquaporin 9 2 3 5
  • Small Solute Channel 1 3 4
  • Aquaglyceroporin-9 3 4
  • AQP-9 3 4
  • SSC1 3 4
  • Aquaporin-9 3
  • 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 Endocarditis and Hydrarthrosis. Among its related pathways are Aquaporin-mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP10.

UniProtKB/Swiss-Prot for AQP9 Gene

  • Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol.

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

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP9 Gene

Genomics for AQP9 Gene

Regulatory Elements for AQP9 Gene

Enhancers for AQP9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G058520 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.3 +384.3 384323 4.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT YY1 ZNF766 FOS JUNB REST AQP9 LIPC RNF111 ADAM10 SLTM LOC101928668 PIR52724
GH15G058137 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +3.0 2951 7.0 HDGF FOXA2 PKNOX1 ARNT CREB3L1 ARID4B DMAP1 YY1 ZNF766 MXD4 AQP9 MTCO3P23
GH15G058457 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +320.9 320910 4.0 HDGF FOXA2 PKNOX1 ARNT AGO1 ARID4B SIN3A DMAP1 FEZF1 YY1 LIPC ADAM10 AQP9 SNORD3P1 LOC101928725 MINDY2 SLTM ENSG00000277790 ALDH1A2
GH15G058525 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +389.0 388996 3.9 ZFP64 ARID4B DMAP1 THRB RAD21 RARA CREM PPARG NR2F2 KAT8 LIPC SNORD3P1 MINDY2 LOC101928725 AQP9 RNF111 ADAM10 SLTM LOC101928668 PIR52724
GH15G058329 2 FANTOM5 Ensembl ENCODE dbSUPER 7.7 +194.3 194290 5.6 MLX CREB3L1 FEZF1 DMAP1 YY1 SP3 NFYC TBX21 MEF2D ZNF610 ADAM10 LIPC AQP9 ENSG00000225798 LOC101928635
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AQP9 on UCSC Golden Path with GeneCards custom track

Genomic Location for AQP9 Gene

Chromosome:
15
Start:
58,138,169 bp from pter
End:
58,185,911 bp from pter
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

No data available for DME Specific Peptides for AQP9 Gene

Domains & Families for AQP9 Gene

Gene Families for AQP9 Gene

HGNC:
IUPHAR :

Protein Domains for AQP9 Gene

Suggested Antigen Peptide Sequences for AQP9 Gene

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 channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol.

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

Phenotypes for AQP9 Gene

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

Animal Models for AQP9 Gene

MGI Knock Outs for AQP9:

Animal Model Products

  • Taconic Biosciences Mouse Models for AQP9

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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

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 1
cytoskeleton 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 TAS 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

Pathways & Interactions for AQP9 Gene

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

Pathways by source for AQP9 Gene

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:0006810 transport TAS 9733774
GO:0006833 water transport IDA,TAS --
GO:0006863 purine nucleobase transport IDA 9733774
GO:0006955 immune response TAS 9514918
GO:0006970 response to osmotic stress TAS 9733774
genes like me logo Genes that share ontologies with AQP9: view

Drugs & Compounds for AQP9 Gene

(6) 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 A dihydrochalcone found in apple 0

(2) 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

Unigene Clusters for AQP9 Gene

Aquaporin 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
AQP9

Expression for AQP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for AQP9 Gene



Protein tissue co-expression partners for AQP9 Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP9 Gene:

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)
genes like me logo Genes that share expression patterns with AQP9: view

Primer Products

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 34 35
  • 98.87 (n)
dog
(Canis familiaris)
Mammalia AQP9 34 35
  • 90.4 (n)
cow
(Bos Taurus)
Mammalia AQP9 34 35
  • 87.34 (n)
rat
(Rattus norvegicus)
Mammalia Aqp9 34
  • 80.56 (n)
mouse
(Mus musculus)
Mammalia Aqp9 34 16 35
  • 78.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AQP9 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQP9 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP9 34 35
  • 68.44 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp9 34
  • 63.71 (n)
zebrafish
(Danio rerio)
Actinopterygii aqp9a 34
  • 57.07 (n)
aqp9b 35
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C01G6.1a 36
  • 42 (a)
C01G6.1b 36
  • 42 (a)
Y69E1A.7 36
  • 40 (a)
M02F4.8 36
  • 39 (a)
aqp-2 35
  • 38 (a)
ManyToMany
aqp-7 35
  • 36 (a)
ManyToMany
aqp-1 35
  • 32 (a)
ManyToMany
aqp-8 35
  • 32 (a)
ManyToMany
aqp-3 35
  • 25 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL068W 34
  • 44.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 14 (a)
OneToMany
FPS1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons NIP7;1 34
  • 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)

Paralogs for AQP9 Gene

Paralogs for AQP9 Gene

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

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

Variants for AQP9 Gene

Sequence variations from dbSNP and Humsavar for AQP9 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000086486 -- 58,141,675(+) TGCTC(C/G/T)TACCT intron-variant
rs1000143137 -- 58,155,482(+) GCCAC(C/G)CTTAC intron-variant
rs1000196460 -- 58,138,303(+) CAGGC(A/G)CAAAA intron-variant, utr-variant-5-prime
rs1000284371 -- 58,184,645(+) CTACT(A/G)GATTT intron-variant, utr-variant-3-prime
rs1000358730 -- 58,179,436(+) AGTTC(A/C)GATGA intron-variant

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)

Relevant External Links for AQP9 Gene

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

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

Disorders for AQP9 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
endocarditis
hydrarthrosis
- elite association - COSMIC cancer census association via MalaCards
Search AQP9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AQP9

Genetic Association Database (GAD)
AQP9
Human Genome Epidemiology (HuGE) Navigator
AQP9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP9
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 M.A. (Am. J. Physiol. 1999) 3 4 22 64
  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. (Biochem. Biophys. Res. Commun. 1998) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. 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 Clin Pract 2010) 3 46 64
  5. High levels of human chorionic gonadotropin (hCG) correlate with increased aquaporin-9 (AQP9) expression in explants from human preeclamptic placenta. (PMID: 20220109) Marino G.I. … Damiano A.E. (Reprod Sci 2010) 3 22 64

Products for AQP9 Gene

Sources for AQP9 Gene

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