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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AQP8 Gene

protein-coding   GIFtS: 55
GCID: GC16P025227

aquaporin 8

 Explore 18 diseases affiliated with
AQP8 via our new
 Human Malady Compendium 
Biological research products
for AQP8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aquaporin 81 2
AQP-82 3
Aquaporin-81

External Ids:    HGNC: 6421   Entrez Gene: 3432   Ensembl: ENSG000001033757   OMIM: 6037505   UniProtKB: O947783   

Export aliases for AQP8 gene to outside databases

Previous GC identifers: GC16M024599 GC16P025327 GC16P025154 GC16P025193 GC16P025194 GC16P025135 GC16P023321


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AQP8:
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)

UniProtKB/Swiss-Prot: AQP8_HUMAN, O94778
Function: Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea

Gene Wiki entry for AQP8


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AQP8 gene promoter:
         Max1   Bach1   AREB6   PPAR-gamma1   HNF-1   HOXA5   COMP1   PPAR-gamma2   Ik-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAQP8 promoter sequence
   Search SABiosciences Chromatin IP Primers for AQP8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12   Ensembl cytogenetic band:  16p12.1   HGNC cytogenetic band: 16p12

AQP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP8 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P025227:  view genomic region     (about GC identifiers)

Start:
25,227,052 bp from pter      End:
25,240,261 bp from pter
Size:
13,210 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AQP8_HUMAN, O94778 (See protein sequence)
Recommended Name: Aquaporin-8  
Size: 261 amino acids; 27381 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q8IUU3 Q9UIA4

Explore the universe of human proteins at neXtProt for AQP8: NX_O94778

AQP8 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001160.2  
ENSEMBL proteins: 
 ENSP00000454457   ENSP00000219660  
Reactome Protein details: O94778
Human Recombinant Protein Products: 
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Browse ProSpec Recombinant Proteins
Uscn Proteins for AQP8

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005792microsome ----
GO:0005886plasma membrane TAS--
GO:0005887integral to plasma membrane TAS9806845
GO:0043231intracellular membrane-bounded organelle IEA--
GO:0045177apical part of cell IDA12801959


AQP8 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for AQP8


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AQP8 for domains           About GeneDecksing

4 InterPro domains/families:
 IPR022357 MIP_CS
 IPR023271 Aquaporin-like
 IPR023277 Aquaporin_8
 IPR000425 MIP

Graphical View of Domain Structure for InterPro Entry O94778

ProtoNet protein and cluster: O94778

1 Blocks protein family: IPB000425 MIP family

UniProtKB/Swiss-Prot: AQP8_HUMAN, O94778
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)
Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: AQP8_HUMAN, O94778
Function: Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea

     Genatlas biochemistry entry for AQP8:
aquaporin 8,water channel forming integral protein,MIP family,selectively expressed in the pancreas and colon

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate AQP8:
hsa-miR-518a-5p
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Inhib. RNA
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Clone
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP8

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0015250water channel activity TAS9806845


AQP8 for ontologies           About GeneDecksing


Animal Models:
     Mouse knock-out Aqp8tm1Ask for AQP8
     5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aqp8):
 digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  renal/urinary system  reproductive system 

AQP8 for phenotypes           About GeneDecksing


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Passive Transport by Aquaporins
Passive Transport by Aquaporins1.00
2Bile secretion
Bile secretion1.00
3Regulation of Water Balance by Renal Aquaporins
Aquaporin-mediated transport0.84
4SLC-mediated transmembrane transport
Transmembrane transport of small molecules0.50
5Nanog in Mammalian ESC Pluripotency
eNOS Signaling0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP8
    eNOS Signaling

3        Reactome Pathways for AQP8
    Transmembrane transport of small molecules
Aquaporin-mediated transport
Passive Transport by Aquaporins


1         Kegg Pathway  (Kegg details for AQP8):
    Bile secretion


AQP8 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AQP8

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport TAS9806845
GO:0006833water transport TAS--
GO:0015722canalicular bile acid transport IEA--
GO:0055085transmembrane transport TAS--
GO:0071320cellular response to cAMP IEP17636236


AQP8 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AQP8 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AQP8
3 Novoseek chemical compound relationships for AQP8 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
glycerol 44.5 4 9806845 (1), 15948717 (1), 17044001 (1), 20149227 (1)
ammonium 23.8 2 15948717 (2)
forskolin 20.4 2 17636236 (1), 12712100 (1)

Search CenterWatch for drugs/clinical trials and news about AQP8 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AQP8 gene: 
NM_001169.2  

Unigene Cluster for AQP8:

Aquaporin 8
Hs.176658  [show with all ESTs]
Unigene Representative Sequence: BM923471
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000566125 ENST00000219660(uc002doc.3)

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate AQP8:
hsa-miR-518a-5p
SwitchGear 3'UTR luciferase reporter plasmidAQP8 3' UTR sequence
Inhib. RNA
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Clone
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP8
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP8

Additional cDNA sequence: 

AB013456.1 AF067797.1 AK222964.1 AK222975.1 BC040630.1 

2 DOTS entries:

DT.40122395  DT.97807192 

24/47 AceView cDNA sequences (see all 47):

BG982517 NM_001169 AA577625 BC040630 BG185785 BG200858 BG188929 BI517570 
AB013456 AF067797 BG204865 BG221055 CA865552 BG217572 BM923471 BG984960 
AW083143 AW138645 AI732659 AI791955 BG205480 BG221545 BG191532 BQ326472 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AQP8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATCCCGCCC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image

AQP8 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
2 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
OvaryPrimary FollicleGranulosa CellsOvary
OvaryPrimordial FolliclePre-Granulosa CellsOvary
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See AQP8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AQP8

SOURCE GeneReport for Unigene cluster: Hs.176658

UniProtKB/Swiss-Prot: AQP8_HUMAN, O94778
Tissue specificity: Expressed only in pancreas and colon

    SABiosciences Custom PCR Arrays for AQP8
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP8
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP8

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQP8 gene from 6/19 species (see all 19)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves AQP81 aquaporin 8 64.36(n)
57.58(a)
  416566  XM_414866.2  XP_414866.2 
zebrafish
(Danio rerio)
Actinopterygii aqp8a.11 aquaporin 8a, tandem duplicate 1 59.37(n)
53.65(a)
  447923  NM_001004661.1  NP_001004661.1 
fruit fly
(Drosophila melanogaster)
Insecta CG176621 CG17662 48.94(n)
34.89(a)
  37738  NM_137968.2  NP_611812.2 
worm
(Caenorhabditis elegans)
Secernentea aqp-51 Protein AQP-5 43.74(n)
37.56(a)
  183221  NM_073290.2  NP_505691.2 
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-TIP16
ATTIP2;36
(see all 10)
aquaporin TIP2-3
(see all 10)
33(a)
33(a)
(see all 10)
1 ↔ many
1 ↔ many
(see all 10)
3(5505404-5507050)
5(19248249-19249504)
rice
(Oryza sativa)
Liliopsida --
--
(see all 10)
aquaporin protein, putative, expressed
(see all 10)
33(a)
32(a)
(see all 10)
1 ↔ many
1 ↔ many
(see all 10)
2(26602492-26603789)
6(13406320-13407860)


ENSEMBL Gene Tree for AQP8 (if available)
TreeFam Gene Tree for AQP8 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for AQP8 gene
ENSG000002504242  AQP22  MIP2  AQP52  AQP12  AQP42  AQP62  
5 SIMAP similar genes for AQP8 using alignment to 2 protein entries:     AQP8_HUMAN (see all proteins):
AQP5    AQP6    AQP1    MIP    AQP2

AQP8 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/318 NCBI SNPs in AQP8 are shown (see all 318    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs74995781,2
C,F,A,H,--25226313(+) CAGCAA/TTTGGA 1 -- us2k111Minor allele frequency- T:0.47NA WA EA 378
rs1410655071,2
--25226410(+) ACAGGA/TAATCT 1 -- us2k10--------
rs1856344511,2
--25226416(+) AATCTA/GTACCC 1 -- us2k10--------
rs1450261051,2
--25226455(+) CCCCTC/TGGGCC 1 -- us2k10--------
rs1387142161,2
--25226460(+) CGGGCC/GGTGGA 1 -- us2k10--------
rs1489641331,2
--25226505(+) CTAGTC/TTAGGT 1 -- us2k10--------
rs1436990201,2
--25226508(+) GTCTAA/GGTACT 1 -- us2k10--------
rs1481064111,2
--25226518(+) TTCATA/GCAAGT 1 -- us2k10--------
rs1901042491,2
--25226533(+) TCAGAC/TACAGT 1 -- us2k10--------
rs735510051,2
C,--25226628(+) TTCCTC/AGNNNN 1 -- us2k13Minor allele frequency- A:0.05WA NA 240

HapMap Linkage Disequilibrium report for AQP8 (25227052 - 25240261 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for AQP8
     4 CNVs: 88019 88018 58758 77233

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP8
DNA2.0 Custom Variant and Variant Library Synthesis for AQP8

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AQP8 for disorders           About GeneDecksing

OMIM gene information: 603750    OMIM disorders: --

18 diseases for AQP8:    About MalaCards
nephrogenic diabetes insipidus    diabetes insipidus    inflammatory bowel disease    irritable bowel syndrome
oligohydramnios    polyhydramnios    ulcerative colitis    cholestasis
crohn's disease    diarrhea    liver disease    cervical carcinoma
hepatocellular carcinoma    cervicitis    peritonitis    pneumonia
carcinoma    sepsis

1 disease from the University of Copenhagen DISEASES database for AQP8:
Oligohydramnios

2 Novoseek disease relationships for AQP8 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
colitis ulcerative 29.7 2 18467915 (1), 17461471 (1)
inflammatory bowel diseases 27.6 2 18467915 (1), 15338270 (1)

Human Genome Epidemiology (HuGE) Navigator: AQP8 (1 document)

Export disorders for AQP8 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for AQP8 gene, integrated from 9 sources (see all 48):
(articles sorted by number of sources associating them with AQP8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning and functional expression of human aquaporin8 cDNA and analysis of its gene. (PubMed id 9806845)1, 2, 3, 9 Koyama N....Marumo F. (1998)
  2. Assignment of the aquaporin-8 water channel gene (AQP 8) to human chromosome 16p12. (PubMed id 10393433)1, 3, 9 Viggiano L....Calamita G. (1999)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. [Relationship between cyclic adenosine monophosphate and auqaporin 8 expression and distribution in human amnion-derived cells] (PubMed id 19087520)1, 9 Li L. and Qi H.B. (2008)
  5. [Expression of aquaporin-8 and bcl-2 protein in human cervical carcinoma and their correlations] (PubMed id 18788571)1, 9 Yao J.F....Shi Y.F. (2008)
  6. Knockdown of hepatocyte aquaporin-8 by RNA interference induces defective bile canalicular water transport. (PubMed id 18948439)1, 9 Larocca M.C....Marinelli R.A. (2009)
  7. [Expression of aquaporin 8 in human fetal membrane an d placenta of idiopathic polyhydramnios] (PubMed id 19563057)1, 9 Huang J. and Qi H.B. (2009)
  8. Expression of aquaporin 8 is diversely regulated by o smotic stress in amnion epithelial cells. (PubMed id 20144166)1, 9 Qi H....Huang J. (2009)
  9. Expression of aquaporin 8 and its up-regulation by cyclic adenosine monophosphate in human WISH cells. (PubMed id 12712100)1, 9 Wang S....Ross M.G. (2003)
  10. Expression of aquaporin-8 in human placenta and chorioamniotic membranes: evidence of molecular mechanism for intramembranous amniotic fluid resorption. (PubMed id 11717661)1, 9 Wang S....Ross M.G. (2001)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 343 HGNC: 642 AceView: AQP8 Ensembl:ENSG00000103375 euGenes: HUgn343
ECgene: AQP8 Kegg: 343 H-InvDB: AQP8

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AQP8 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AQP8 gene:
Search GeneIP for patents involving AQP8

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