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

Aliases for AQP8 Gene

Aliases for AQP8 Gene

  • Aquaporin 8 2 3 5
  • AQP-8 3 4
  • Aquaporin-8 3

External Ids for AQP8 Gene

Previous GeneCards Identifiers for AQP8 Gene

  • GC16M024599
  • GC16P025327
  • GC16P025154
  • GC16P025193
  • GC16P025194
  • GC16P025135
  • GC16P023321
  • GC16P025227
  • GC16P025399
  • GC16P025510
  • GC16P025574
  • GC16P025640
  • GC16P025706
  • GC16P025769
  • GC16P025832
  • GC16P025894

Summaries for AQP8 Gene

Entrez Gene Summary for AQP8 Gene

  • Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]

GeneCards Summary for AQP8 Gene

AQP8 (Aquaporin 8) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Detoxification of Reactive Oxygen Species. Gene Ontology (GO) annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP5.

UniProtKB/Swiss-Prot for AQP8 Gene

  • Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.

Tocris Summary for AQP8 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 AQP8 Gene

Additional gene information for AQP8 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP8 Gene

Genomics for AQP8 Gene

GeneHancer (GH) Regulatory Elements for AQP8 Gene

Promoters and enhancers for AQP8 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
GH16J025177 Promoter/Enhancer 1.5 EPDnew ENCODE 650.3 -37.4 -37351 2.3 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 TCF12 SLC30A9 ATF7 AQP8 LCMT1 GC16P026017 LCMT1-AS2
GH16J025216 Promoter/Enhancer 1.3 EPDnew ENCODE 650.7 +1.2 1202 1.2 HDAC1 RAD21 CHAMP1 TCF12 ZNF766 GATA2 EGR1 ZFP91 ATF7 CEBPB AQP8 RBBP6 HMGN2P3 PIR35238
GH16J025210 Enhancer 0.8 Ensembl ENCODE 0.7 -4.8 -4816 0.2 PKNOX1 PHF21A BHLHE40 MAFG DPF2 MITF FOSL1 ZNF316 EGR1 SMARCA4 AQP8 GC16P026019
GH16J025225 Enhancer 1 Ensembl ENCODE 0.4 +9.8 9769 0.6 HDGF ELF3 RB1 RAD21 SLC30A9 ZNF335 ARID2 ZNF143 ATF7 ZNF654 ZKSCAN2 AQP8 PIR35238
GH16J025233 Enhancer 1 Ensembl ENCODE 0.4 +18.1 18054 0.4 RB1 ZNF2 RAD21 ZNF143 ATF7 CREM ZNF654 YY2 MXD4 REST ZKSCAN2 PIR35238 AQP8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AQP8 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • Bach1
  • HOXA5
  • c-Myc
  • Max1
  • AREB6
  • COMP1
  • Ik-1
  • HNF-1

Genomic Locations for AQP8 Gene

Genomic Locations for AQP8 Gene
chr16:25,215,731-25,228,940
(GRCh38/hg38)
Size:
13,210 bases
Orientation:
Plus strand
chr16:25,227,052-25,240,261
(GRCh37/hg19)
Size:
13,210 bases
Orientation:
Plus strand

Genomic View for AQP8 Gene

Genes around AQP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP8 Gene

Proteins for AQP8 Gene

  • Protein details for AQP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94778-AQP8_HUMAN
    Recommended name:
    Aquaporin-8
    Protein Accession:
    O94778
    Secondary Accessions:
    • Q8IUU3
    • Q9UIA4

    Protein attributes for AQP8 Gene

    Size:
    261 amino acids
    Molecular mass:
    27381 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AQP8 Gene

Post-translational modifications for AQP8 Gene

  • Glycosylation at Asn139 and posLast=5959
  • Modification sites at PhosphoSitePlus

Other Protein References for AQP8 Gene

No data available for DME Specific Peptides for AQP8 Gene

Domains & Families for AQP8 Gene

Gene Families for AQP8 Gene

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

Protein Domains for AQP8 Gene

Suggested Antigen Peptide Sequences for AQP8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94778

UniProtKB/Swiss-Prot:

AQP8_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 AQP8: view

Function for AQP8 Gene

Molecular function for AQP8 Gene

UniProtKB/Swiss-Prot Function:
Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.
GENATLAS Biochemistry:
aquaporin 8,water channel forming integral protein,MIP family,selectively expressed in the pancreas and colon

Phenotypes From GWAS Catalog for AQP8 Gene

Gene Ontology (GO) - Molecular Function for AQP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015250 water channel activity IBA,TAS --
GO:0015267 channel activity IEA --
genes like me logo Genes that share ontologies with AQP8: view
genes like me logo Genes that share phenotypes with AQP8: view

Animal Models for AQP8 Gene

MGI Knock Outs for AQP8:

Animal Model Products

  • Taconic Biosciences Mouse Models for AQP8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for AQP8 Gene

Localization for AQP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP8 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 AQP8 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for AQP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9806845
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IDA 12801959
genes like me logo Genes that share ontologies with AQP8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AQP8 Gene

Pathways & Interactions for AQP8 Gene

genes like me logo Genes that share pathways with AQP8: view

Pathways by source for AQP8 Gene

Gene Ontology (GO) - Biological Process for AQP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006833 water transport IEA,TAS --
GO:0034220 ion transmembrane transport IBA --
GO:0055085 transmembrane transport IEA --
GO:0071320 cellular response to cAMP IEP 17636236
genes like me logo Genes that share ontologies with AQP8: view

No data available for SIGNOR curated interactions for AQP8 Gene

Drugs & Compounds for AQP8 Gene

(3) Drugs for AQP8 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hg<sup>2+</sup> Pharma Inhibitor 0

(1) Additional Compounds for AQP8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AQP8: view

Transcripts for AQP8 Gene

mRNA/cDNA for AQP8 Gene

Unigene Clusters for AQP8 Gene

Aquaporin 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AQP8 Gene

No ASD Table

Relevant External Links for AQP8 Gene

GeneLoc Exon Structure for
AQP8
ECgene alternative splicing isoforms for
AQP8

Expression for AQP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP8 Gene

This gene is overexpressed in Pancreas (x36.5) and Colon - Transverse (x14.9).

NURSA nuclear receptor signaling pathways regulating expression of AQP8 Gene:

AQP8

SOURCE GeneReport for Unigene cluster for AQP8 Gene:

Hs.176658

mRNA Expression by UniProt/SwissProt for AQP8 Gene:

O94778-AQP8_HUMAN
Tissue specificity: Expressed only in pancreas and colon.

Evidence on tissue expression from TISSUES for AQP8 Gene

  • Intestine(4.7)
  • Pancreas(3)
genes like me logo Genes that share expression patterns with AQP8: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP8 Gene

Orthologs for AQP8 Gene

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

Orthologs for AQP8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQP8 34 33
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AQP8 34 33
  • 86.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AQP8 34 33
  • 83.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqp8 33
  • 78.42 (n)
mouse
(Mus musculus)
Mammalia Aqp8 16 34 33
  • 78.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AQP8 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQP8 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP8 34 33
  • 63.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 29 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aqp8 33
  • 66.13 (n)
zebrafish
(Danio rerio)
Actinopterygii aqp8a.1 34 33
  • 58.95 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14059 33
fruit fly
(Drosophila melanogaster)
Insecta CG17662 34
  • 27 (a)
ManyToMany
CG17664 34
  • 26 (a)
ManyToMany
CG4019 34
  • 24 (a)
ManyToMany
CG5398 34
  • 23 (a)
ManyToMany
bib 34
  • 10 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea aqp-5 34 33
  • 44.22 (n)
OneToMany
aqp-4 34
  • 30 (a)
OneToMany
aqp-6 34
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 26 (a)
ManyToMany
AQY1 34
  • 21 (a)
ManyToMany
AQY2 34
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6166 34
  • 32 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
CSA.5890 34
  • 24 (a)
OneToMany
Species where no ortholog for AQP8 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 AQP8 Gene

ENSEMBL:
Gene Tree for AQP8 (if available)
TreeFam:
Gene Tree for AQP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AQP8: view image

Paralogs for AQP8 Gene

Paralogs for AQP8 Gene

(5) SIMAP similar genes for AQP8 Gene using alignment to 2 proteins:

  • AQP8_HUMAN
  • Q53GF6_HUMAN
genes like me logo Genes that share paralogs with AQP8: view

Variants for AQP8 Gene

Sequence variations from dbSNP and Humsavar for AQP8 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
VAR_036484 A breast cancer sample p.Ile229Met
rs1000116912 -- 25,215,236(+) G/T upstream_transcript_variant
rs1000199373 -- 25,216,356(+) C/T upstream_transcript_variant
rs1000371030 -- 25,219,386(+) A/ intron_variant
rs1000942487 -- 25,221,087(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AQP8 Gene

Variant ID Type Subtype PubMed ID
esv2668763 CNV deletion 23128226
esv3553259 CNV deletion 23714750
esv3638272 CNV loss 21293372
nsv820298 CNV gain 19587683

Variation tolerance for AQP8 Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQP8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP8 Gene

Disorders for AQP8 Gene

Additional Disease Information for AQP8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for AQP8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AQP8 Gene

Publications for AQP8 Gene

  1. Cloning and functional expression of human aquaporin8 cDNA and analysis of its gene. (PMID: 9806845) Koyama N … Marumo F (Genomics 1998) 2 3 4 22 58
  2. Assignment of the aquaporin-8 water channel gene (AQP8) to human chromosome 16p12. (PMID: 10393433) Viggiano L … Calamita G (Cytogenetics and cell genetics 1999) 2 3 22 58
  3. 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 44 58
  4. Knockdown of hepatocyte aquaporin-8 by RNA interference induces defective bile canalicular water transport. (PMID: 18948439) Larocca MC … Marinelli RA (American journal of physiology. Gastrointestinal and liver physiology 2009) 3 22 58
  5. [Expression of aquaporin 8 in human fetal membrane and placenta of idiopathic polyhydramnios]. (PMID: 19563057) Huang J … Qi HB (Zhonghua fu chan ke za zhi 2009) 3 22 58

Products for AQP8 Gene

Sources for AQP8 Gene

Content
Loading form....