Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



AQP7 Gene

protein-coding   GIFtS: 61
GCID: GC09M033384

Aquaporin 7


(Previous symbol: AQP7L)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Aquaporin 71 2     GLYCQTL2 5
AQP7L1 2 3     aquaglyceroporin-72
Aquaporin Adipose2 3     aquaporin-72
AQP-72 3     Aquaglyceroporin-73
AQP92 3     Aquaporin-7-like3
AQPap2 3     

External Ids:    HGNC: 6401   Entrez Gene: 3642   Ensembl: ENSG000001652697   OMIM: 6029745   UniProtKB: O145203   

Export aliases for AQP7 gene to outside databases

Previous GC identifers: GC09M033697 GC09M033554 GC09M033374 GC09M033341


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

TryGeneCards Plus

Entrez Gene summary for AQP7 Gene:
Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has
greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same
chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water,
glycerol and urea transport. It may play an important role in sperm function. (provided by RefSeq, Jul 2008)

GeneCards Summary for AQP7 Gene:
AQP7 (aquaporin 7) is a protein-coding gene. Diseases associated with AQP7 include meniere's disease, and endolymphatic hydrops. GO annotations related to this gene include water channel activity and urea channel activity. An important paralog of this gene is AQP9.

UniProtKB/Swiss-Prot: AQP7_HUMAN, O14520
Function: Forms a channel for water and glycerol

Gene Wiki entry for AQP7 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AQP7 gene promoter:
         COUP-TF1   NF-1   COUP   HNF-4alpha2   Tal-1beta   E47   HNF-4alpha1   COUP-TF   ZID   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAQP7 promoter sequence
   Search Chromatin IP Primers for AQP7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AQP7


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

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13

AQP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP7 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M033384:  view genomic region     (about GC identifiers)

Start:
33,384,765 bp from pter      End:
33,402,643 bp from pter
Size:
17,879 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: AQP7_HUMAN, O14520 (See protein sequence)
Recommended Name: Aquaporin-7  
Size: 342 amino acids; 37232 Da
Secondary accessions: Q5T5L9 Q8NHM3

Explore the universe of human proteins at neXtProt for AQP7: NX_O14520

Explore proteomics data for AQP7 at MOPED


See AQP7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001161.1  
ENSEMBL proteins: 
 ENSP00000412868   ENSP00000368821   ENSP00000297988   ENSP00000410138   ENSP00000368820  
 ENSP00000368817   ENSP00000396111   ENSP00000438860   ENSP00000439534   ENSP00000441619  
Reactome Protein details: O14520

AQP7 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein for AQP7
OriGene Protein Over-expression Lysate for AQP7
OriGene MassSpec for AQP7
OriGene Custom Protein Services for AQP7
GenScript Custom Purified and Recombinant Proteins Services for AQP7
Novus Biologicals AQP7 Protein
Novus Biologicals AQP7 Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for AQP7

AQP7 Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of AQP7
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for AQP7
Novus Biologicals AQP7 Antibodies
Abcam antibodies for AQP7
Cloud-Clone Corp. Antibodies for AQP7
ThermoFisher Antibodies for AQP7
LSBio Antibodies in human, mouse, rat for AQP7

AQP7 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for AQP7
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for AQP7
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for AQP7
Cloud-Clone Corp. CLIAs for AQP7


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

TryGeneCards Plus
HGNC Gene Families:
AQP: Ion channels / Aquaporins

IUPHAR Guide to PHARMACOLOGY protein family classification: AQP7
Aquaporins

3 InterPro protein domains:
 IPR023271 Aquaporin-like
 IPR015686 Aquaporin_7
 IPR000425 MIP

Graphical View of Domain Structure for InterPro Entry O14520

ProtoNet protein and cluster: O14520

1 Blocks protein domain: IPB000425 MIP family

UniProtKB/Swiss-Prot: AQP7_HUMAN, O14520
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)
Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family


AQP7 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

     UniProtKB/Swiss-Prot Summary: AQP7_HUMAN, O14520
Function: Forms a channel for water and glycerol

     Genatlas biochemistry entry for AQP7:
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

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity ----
GO:0015250water channel activity TAS9405233
GO:0015254glycerol channel activity EXP--
GO:0015265urea channel activity IEA--
     
AQP7 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for AQP7:
 Increased G2M DNA content  Increased number of mitotic ce 

     7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Aqp7):
 adipose tissue  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
 renal/urinary system  reproductive system 

AQP7 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for AQP7: Aqp7tm1.1Suc Aqp7tm1Ask Aqp7tm1Nlsn Aqp7tm1Tfun

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AQP7
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AQP7

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AQP7
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AQP7

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat AQP7 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate AQP7
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for AQP7
Predesigned siRNA for gene silencing in human, mouse, rat AQP7

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for AQP7

Clone
Products:
     
OriGene clones in human, mouse for AQP7 (see all 6)
OriGene ORF clones in mouse, rat for AQP7
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: AQP7 (NM_001170)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQP7
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP7

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for AQP7
Browse ESI BIO Cell Lines and PureStem Progenitors for AQP7 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP7


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
AQP7_HUMAN, O14520: Membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane4
mitochondrion1

Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA18718702
GO:0005886plasma membrane TAS--
GO:0005887integral component of plasma membrane TAS9405233
GO:0005911cell-cell junction IDA18718702
GO:0016020membrane ----

AQP7 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

SuperPaths for AQP7 About    
See pathways by source

SuperPathContained pathways About
1Regulation of Water Balance by Renal Aquaporins
Aquaporin-mediated transport0.85
Transport of Glycerol from Adipocytes to the Liver by Aquaporins0.00
Passive Transport by Aquaporins0.00
2Nanog in Mammalian ESC Pluripotency
eNOS Signaling0.48
3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
Transmembrane transport of small molecules0.47
4PPAR signaling pathway
PPAR signaling pathway
5Integrated Breast Cancer Pathway
Integrated Breast Cancer Pathway

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for AQP7
    eNOS Signaling

1 BioSystems Pathway for AQP7
    Integrated Breast Cancer Pathway

2 Reactome Pathways for AQP7
    Transport of glycerol from adipocytes to the liver by Aquaporins
Passive transport by Aquaporins


1 Kegg Pathway  (Kegg details for AQP7):
    PPAR signaling pathway


AQP7 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Arrays including AQP7: 
          Drug Transporters in human mouse rat
          PPAR Targets in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for AQP7

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for AQP7 (ENSP000002979884) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
DPYDENSP000003592114STRING: ENSP00000359211
FDXRENSP000002931954STRING: ENSP00000293195
GPD1ENSP000003011494STRING: ENSP00000301149
GPD1LENSP000002825414STRING: ENSP00000282541
PDK4ENSP000000051784STRING: ENSP00000005178
About this table

Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006091generation of precursor metabolites and energy TAS9405233
GO:0006810transport ----
GO:0006833water transport TAS--
GO:0007283spermatogenesis IEA--
GO:0007588excretion TAS9405233

AQP7 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

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

Browse Tocris compounds for AQP7

1 IUPHAR Ligand for AQP7 (AQP7)    About this table
LigandTypeActionAffinityPubmed IDs
Hg2+
InhibitorNone--

2 Novoseek inferred chemical compound relationships for AQP7 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
glycerol 69.9 34 17543220 (4), 16764946 (3), 16154425 (2), 11952783 (2) (see all 14)
forskolin 19.6 1 12778365 (1)



AQP7 for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for AQP7 gene: 
NM_001170.1  

Unigene Cluster for AQP7:

Aquaporin 7
Hs.455323  [show with all ESTs]
Unigene Representative Sequence: BC119673
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000447660 ENST00000379507 ENST00000297988(uc003zst.3 uc003zsu.1)
ENST00000439678 ENST00000379506(uc010mjs.2 uc010mjt.2) ENST00000379503
ENST00000377425 ENST00000541274 ENST00000539936(uc011lnx.1 uc011lny.1 uc003zss.3 uc011lnz.1 uc011loa.1)
ENST00000537089
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat AQP7 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate AQP7
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for AQP7
Predesigned siRNA for gene silencing in human, mouse, rat AQP7
Clone
Products:
     
OriGene clones in human, mouse for AQP7 (see all 6)
OriGene ORF clones in mouse, rat for AQP7
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: AQP7 (NM_001170)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQP7
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP7
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for AQP7
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQP7
  QuantiTect SYBR Green Assays in human, mouse, rat AQP7
  QuantiFast Probe-based Assays in human, mouse, rat AQP7

Additional mRNA sequence: 

AB006190.1 AK294028.1 AK297860.1 AK297885.1 AK300716.1 AK301949.1 AK310456.1 AK315879.1 
BC062701.1 BC119672.1 BC119673.1 DQ786216.1 

6 DOTS entries:

DT.91690399  DT.121161469  DT.100754411  DT.100744066  DT.121161454  DT.121161461 

Selected AceView cDNA sequences (see all 64):

AI565345 AI733526 AW016640 CD610869 F27435 R73044 CA427631 F25129 
AA431575 CA407237 BG400737 F37311 BC062701 CD610867 AI820685 AB006190 
AI478534 BX119228 BX114491 BV205810 BI763267 AI263210 AI732264 CB269398 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

AQP7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCCCTAGAGC
AQP7 Expression
About this image


AQP7 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Adipose (Muscoskeletal System)
         Visceral White Adipose
 
 Testis (Reproductive System)
 
 Dermis (Integumentary System)
AQP7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AQP7 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.455323
    Pathway & Disease-focused RT2 Profiler PCR Arrays including AQP7: 
          Drug Transporters in human mouse rat
          PPAR Targets in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for AQP7
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQP7
QuantiTect SYBR Green Assays in human, mouse, rat AQP7
QuantiFast Probe-based Assays in human, mouse, rat AQP7
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP7

(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

TryGeneCards Plus

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

Orthologs for AQP7 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Aqp71 , 5 aquaporin 71, 5 78.45(n)1
76.33(a)1
  4 (20.83 cM)5
118321  NM_007473.41  NP_031499.11 
 410330745 
chicken
(Gallus gallus)
Aves AQP71 aquaporin 7 63.29(n)
59.14(a)
  426892  XM_424498.4  XP_424498.2 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
53(a)
38(a)
1 ↔ many
1 ↔ many
GL343372.1(412706-434498)
GL343859.1(47209-62391)
tropical clawed frog
(Xenopus tropicalis)
Amphibia aqp71 aquaporin 7 57.76(n)
54.15(a)
  548443  NM_001015726.1  NP_001015726.1 
zebrafish
(Danio rerio)
Actinopterygii aqp71 aquaporin 7 59.81(n)
55.24(a)
  334529  NM_199910.2  NP_956204.2 
worm
(Caenorhabditis elegans)
Secernentea Y69E1A.73 Major intrinsic protein 38(a)
(best of 2)
  IV(10961471-10962477)   --
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes --
Putative channel-like protein; similar to Fps1p; m...
17(a)
1 → many
VI(20847-22787) YFL054C


ENSEMBL Gene Tree for AQP7 (if available)
TreeFam Gene Tree for AQP7 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
Paralogs for AQP7 gene
AQP92  AQP102  AQP32  
5 SIMAP similar genes for AQP7 using alignment to 10 protein entries:     AQP7_HUMAN (see all proteins):
AQP7P3    bA251O17.3    AQP3    AQP9    AQP10

AQP7 for paralogs           About GeneDecksing


4 Pseudogenes.org Pseudogenes for AQP7
PGOHUM00000260507 PGOHUM00000260508 PGOHUM00000260514 PGOHUM00000260515


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Polymorphic Variants from UniProtKB/Swiss-Prot
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]


Selected SNPs for AQP7 (see all 864)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs625427431,2,,4
C,Funtested133354466(+) AGGCAC/ACCAGA 2 /G /V mis14Minor allele frequency- A:0.04NA EU 5957
rs40086691,2
C--33353677(+) TAGTAC/TATCTG 1 -- ds50011Minor allele frequency- T:0.50CSA 2
rs48796911,2
C,F,A,H--33353683(+) ATCTGT/CGGTAT 1 -- ds50018Minor allele frequency- C:0.08NS EA NA WA 778
rs40086701,2
H--33353722(+) aatctA/Ggaaga 1 -- ds50014Minor allele frequency- G:0.00NS EA 380
rs1812687771,2
--33353730(+) AGAATA/GCTAGG 1 -- ds50010--------
rs1121033261,2
C--33353749(+) TAATG-/AAAAAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
rs39549791,2
C,H--33353777(+) TCTACA/CTTCTT 1 -- ds50014Minor allele frequency- C:0.00NS EA 408
rs22476541,2
C,F,H--33353794(+) TGCCTT/GGTCTG 1 -- ds500111Minor allele frequency- G:0.13NS EA NA CSA WA 768
rs727074231,2
C,F--33353810(+) AGAACC/TGGCCA 1 -- ds50011Minor allele frequency- T:0.03NA 120
rs23809721,2
H--33353822(+) AACTCA/GGGGAA 1 -- ds50014Minor allele frequency- G:0.00NS EA 398

HapMap Linkage Disequilibrium report for AQP7 (33384765 - 33402643 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for AQP7:    About this table    
Variant IDTypeSubtypePubMed ID
nsv8439CNV Loss18304495
nsv482129CNV Gain20164927

Human Gene Mutation Database (HGMD): AQP7
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing AQP7
DNA2.0 Custom Variant and Variant Library Synthesis for AQP7

(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

TryGeneCards Plus
OMIM gene information: 602974   
OMIM disorders: 614411  
20 diseases for AQP7:    
About MalaCards
meniere's disease    endolymphatic hydrops    menieres disease    constipation
morbid obesity    nephrogenic diabetes insipidus    diabetes insipidus    traumatic brain injury
brain injury    obesity    insulin resistance    ulcerative colitis
epididymitis    crohn's disease    polycystic ovary syndrome    pneumonia
hypoxia    atherosclerosis    thyroiditis    breast cancer

2 diseases from the University of Copenhagen DISEASES database for AQP7:
Nephrogenic diabetes insipidus     Endolymphatic hydrops

AQP7 for disorders           About GeneDecksing

2 Novoseek inferred disease relationships for AQP7 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
obesity 29.9 13 18401671 (2), 16764946 (2), 17566090 (2), 16046537 (1) (see all 6)
insulin resistance 25.4 6 16154425 (1), 18401671 (1), 12778365 (1)

Genetic Association Database (GAD): AQP7
Human Genome Epidemiology (HuGE) Navigator: AQP7 (1 document)

Export disorders for AQP7 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

TryGeneCards Plus

PubMed articles for AQP7 gene, integrated from 10 sources (see all 56):
(articles sorted by number of sources associating them with AQP7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes. (PubMed id 17566090)1, 2, 9 Ceperuelo-Mallafre V.... Vendrell J. (J. Clin. Endocrinol. Metab. 2007)
  2. Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation. (PubMed id 11952783)1, 2, 9 Kondo H.... Matsuzawa Y. (Eur. J. Biochem. 2002)
  3. A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities. (PubMed id 17351148)1, 4 Prudente S....Trischitta V. (Diabetes 2007)
  4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
  5. Molecular cloning and expression of a novel human aquaporin from adipose tissue with glycerol permeability. (PubMed id 9405233)1, 2 Kuriyama H.... Okubo K. (Biochem. Biophys. Res. Commun. 1997)
  6. Cloning and functional expression of a new water channel abundantly expressed in the testis permeable to water, glycerol, and urea. (PubMed id 9252401)1, 3 Ishibashi K....Sasaki S. (J. Biol. Chem. 1997)
  7. Gene expression of paired abdominal adipose AQP7 and liver AQP9 in patients with morbid obesity: relationship with glucose abnormalities. (PubMed id 19615702)1, 9 Miranda M....Vendrell J. (Metab. Clin. Exp. 2009)
  8. Influence of morbid obesity and insulin resistance on gene expression levels of AQP7 in visceral adipose tissue and AQP9 in liver. (PubMed id 18401671)1, 9 CatalA!n V....FrA1hbeck G. (Obes Surg 2008)
  9. Molecular characterization of human Aquaporin-7 gene and its chromosomal mapping. (PubMed id 9714739)1, 9 Ishibashi K....Sasaki S. (Biochim. Biophys. Acta 1998)
  10. Differential expression of aquaporin 7 in adipose tissue of lean and obese high fat consumers. (PubMed id 16325777)1, 9 Marrades M.P....Moreno-Aliaga M.J. (Biochem. Biophys. Res. Commun. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

TryGeneCards Plus
 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

TryGeneCards Plus
Entrez Gene: 364 HGNC: 640 AceView: AQP7 Ensembl:ENSG00000165269 euGenes: HUgn364
ECgene: AQP7 Kegg: 364 H-InvDB: AQP7

(According to HUGE)
About This Section

TryGeneCards Plus
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus
NameDescription
PharmGKB entry for AQP7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section

TryGeneCards Plus
Patent Information for AQP7 gene:
Search GeneIP for patents involving AQP7

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

TryGeneCards Plus

 Browse Purified and Recombinant Proteins at EMD Millipore
 Browse Small Molecules at EMD Millipore
 EMD Millipore Mono- and Polyclonal Antibodies for the study of AQP7
 Browse Kits and Assays available from EMD Millipore
 
 EMD Millipore genomic analysis products

  
 Browse Antibodies   Browse Cell Culture Products  
 Browse ELISAs   Browse Flow Cytometry Kits  
 Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
 Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
 Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
 Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
 Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
 Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
 Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
 Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for AQP7  
 Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for AQP7  
 OriGene MassSpec something-or-other for AQP7   OriGene clones in human, mouse for AQP7  
 OriGene qSTAR qPCR primer pairs in human, mouse for AQP7   OriGene Purified Protein for AQP7  
 OriGene ORF clones in mouse, rat for AQP7   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
 OriGene Custom Antibody Services for AQP7   OriGene Custom Protein Services for AQP7  

 
 
 Block miRNA regulation of human, mouse, rat AQP7 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing AQP7
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AQP7 Predesigned siRNA for gene silencing in human, mouse, rat AQP7
 QuantiFast Probe-based Assays in human, mouse, rat AQP7 QuantiTect SYBR Green Assays in human, mouse, rat AQP7
 PCR Arrays including human, mouse, rat AQP7 Search Chromatin IP Primers for AQP7
 Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQP7  Search GeneGlobe Interaction Network for AQP7
 Regulatory tfbs in AQP7 promoter
 GenScript Custom Purified and Recombinant Proteins Services for AQP7 GenScript cDNA clones with any tag delivered in your preferred vector for AQP7
 GenScript Custom Assay Services for AQP7 GenScript Custom overexpressing Cell Line Services for AQP7
 CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
 Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
 Plasmid Preparation Custom Peptide Services
 Search for Antibodies & Assays

 Search Tocris compounds for AQP7
 Browse Sino Biological Proteins
 Browse Sino Biological Cell Lysates
 Browse Sino Biological cDNA Clones
 4000+ Proteins
 Search Sino Biological for antibodies, proteins & pathways
 Protein Production Services
 Transfection Reagents
 Protein A/G/L resins
 Isotyping reagents
 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
 AQP7 antibodies
 AQP7 proteins
 AQP7 lysates
 Antibodies for AQP7
 See all of Abcam's Antibodies, Kits and Proteins for AQP7
 Custom Antibody / Protein Production Service
 Bulk Purchasing
 Advantages of Rabbit Monoclonal antibodies
 Abcam protocols and scientific support
 Browse ProSpec Recombinant Proteins
 Proteins for AQP7
 Antibodies for AQP7
 ELISAs for AQP7
 CLIAs for AQP7



 Browse ESI BIO Cell Lines and PureStem Progenitors for AQP7
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP7
 Browse SwitchGear 3'UTR luciferase reporter plasmids for AQP7
 SwitchGear Promoter luciferase reporter plasmids for AQP7
 ThermoFisher Antibodies for AQP7
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP7
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AQP7
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AQP7
 LSBio Antibodies in human, mouse, rat for AQP7
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

View Random Gene

Category
(GIFtS: )
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      AQP7 gene at Home site.
Version: 3.12.164 25 Aug 2014
hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4