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AQP6 Gene

protein-coding   GIFtS: 48

GC12P047398
aquaporin 6, kidney specific
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AQP2L)
Products    

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

Aliases & Descriptions
aquaporin 6, kidney specific1 2     aquaporin-2-like2
AQP2L2 3 5     aquaporin 2-like, kidney specific2
Kidney-specific aquaporin2 3     aquaporin-6, kidney specific2
hKID2 3     KID2
AQP-62 3     Aquaporin-2-like3
aquaporin-62     

External Ids:    HGNC: 6391   Entrez Gene: 3632   Ensembl: ENSG000000861597   UniProtKB: Q135203   

Export aliases for AQP6 gene to outside databases

Previous GC identifers: GC12P050655 GC12P050417 GC12P050077 GC12P048647


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

Entrez Gene summary for AQP6:
The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a
family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is
specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome
12q13. (provided by RefSeq)

UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520
Function: Forms a water-specific channel that participates in distinct physiological functions such as glomerular
filtration, tubular endocytosis and acid-base metabolism (By similarity)


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AQP6 gene promoter:
         Sp1   C/EBPbeta   p53   NRSF form 2   NRSF form 1   MZF-1   YY1   USF1   AP-1   POU3F2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for AQP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13

AQP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP6 gene location

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P047398:  view genomic region     (about GC identifiers)

Start:
47,398,122 bp from pter
End:
47,402,424 bp from pter
Size:
4,303 bases
Orientation:
plus strand

1 alternative location:
Chr12+ 50,360,977-50,370,922     
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520 (See protein sequence)
Recommended Name: Aquaporin-6  
Size: 282 amino acids; 29370 Da
Subcellular location: Cytoplasmic vesicle membrane; Multi-pass membrane protein (By similarity)
PDB structures from and Proteopedia :
1S6E (3D)    

Explore the universe of human proteins at neXtProt for AQP6: NX_Q13520 

REFSEQ proteins: NP_001643.2  

ENSEMBL proteins: 
ENSP00000378436 ENSP00000378435 ENSP00000320247 


Human Recombinant Proteins 
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OriGene Protein Over-expression Lysate: AQP6
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Browse ProSpec Recombinant Proteins

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005887 integral to plasma membrane TAS8812490
GO:0016020 membrane IEA--
GO:0016021 integral to membrane ----
GO:0030658 transport vesicle membrane EXP8812490
GO:0030659 cytoplasmic vesicle membrane ----
About this table

AQP6 for ontologies           About GeneDecksing



Antibodies for AQP6: 
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Browse antibodies at Epitomics

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Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for AQP6 
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for AQP6 


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

AQP6 for domains           About GeneDecksing

3 InterPro domains/families:
 IPR000425 MIP
 IPR022357 MIP_CS
 IPR012269 Aquaporin

Graphical View of Domain Structure for InterPro Entry Q13520

ProtoNet protein and cluster: Q13520

1 Blocks protein family: IPB000425 MIP family

UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520
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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520
Function: Forms a water-specific channel that participates in distinct physiological functions such as glomerular
filtration, tubular endocytosis and acid-base metabolism (By similarity)

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
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Sigma-Aldrich siRNA Panels and siRNA for AQP6
Sigma-Aldrich shRNA for AQP6
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): AQP6
OriGene shRNA RFP (see all 2): AQP6
OriGene basic RS shRNA (see all 2): AQP6
OriGene siRNA (see all 2): AQP6
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AQP6 
miRNA:Sigma-Aldrich microRNA Mimics for AQP6
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AQP6 
1 SABiosciences Assays for microRNA that regulate AQP6:
hsa-miR-671-5p

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: AQP6
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: AQP6
OriGene untagged cDNA clones in CMV expression vector: AQP6
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Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for AQP6 

Genatlas biochemistry entry for AQP6:
aquaporin 2-like,water channel forming integral protein,exclusively localized in intracellular membranes in renal
epithelial,located in intracellular membrane vesicles in glomeruli,in subapical compartment of segments 2 and 3 cells
and in collecting ducts,potentially involved in glomerular filtration,tubular endocytosis and acid-base metabolism

4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005215 transporter activity IEA--
GO:0005253 anion channel activity EXP8812490
GO:0015112 nitrate transmembrane transporter activity IEA--
GO:0015250 water channel activity TAS8812490
About this table

AQP6 for ontologies           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

    SABiosciences Custom Pathway-Focused PCR Arrays for AQP6 

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AQP6

5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport TAS8812490
GO:0006833 water transport TAS--
GO:0007588 excretion TAS8812490
GO:0015706 nitrate transport ----
GO:0042476 odontogenesis IEP12522663
About this table

AQP6 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

AQP6 for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AQP6
1 Novoseek chemical compound relationship for AQP6 gene
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
glycerol 43.9 1 17044001 (1)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and siRNA for AQP6
Sigma-Aldrich shRNA for AQP6
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): AQP6
OriGene shRNA RFP (see all 2): AQP6
OriGene basic RS shRNA (see all 2): AQP6
OriGene siRNA (see all 2): AQP6
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AQP6 
miRNA: Sigma-Aldrich microRNA Mimics for AQP6
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AQP6 
1 SABiosciences Assays for microRNA that regulate AQP6:
hsa-miR-671-5p
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: AQP6
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: AQP6
OriGene untagged cDNA clones in CMV expression vector: AQP6
Browse 3'-UTR reporter clones for miRNA target validation 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for AQP6 
Primers: OriGene genome-wide validated SYBR primer pairs: AQP6
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for AQP6: PPH09464A

REFSEQ mRNAs for AQP6 gene: 

NM_001652.3  

Additional cDNA sequence: 

BC065275.1 U48408.1 

3 DOTS entries:

DT.404461  DT.99942987  DT.75106831 

7 AceView cDNA sequences:

BC065275 AL137716 NM_053286 BU194843 NM_001652 AA872916 U48408 

highest scoring ESTs for AQP6:

U48408 AA872916 BU194843 AL137716 BC065275 NM_001652 AW271136 DA055562 DA066932 DA891316 

Unigene Cluster for AQP6:

Aquaporin 6, kidney specific
Hs.54505  [show with all ESTs]
Unigene Representative Sequence: NM_001652


GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for AQP6

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:              -           -                           
SP2:                    -     -                           
SP3:                                                      

About this scheme

ECgene alternative splicing isoforms for AQP6
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000394985 ENST00000394984 ENST00000315520 ENST00000489786(uc001rvp.1 uc001rvq.1 uc001rvr.1)


(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

AQP6 expression in normal and diseased human tissues

1  / 2  / 3

5 probe-sets matching AQP6 gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
32423_at2, 3 U95-A 1 0.88 1.00 1.00 1.00 U48408 1.00 1.00 1.00 1
208435_s_at2, 3 U133-A 1 0.91 1.00 -- -- NM_001652 0.60 1.00 0.82 1
216219_at2, 3 U133-A 1 0.64 1.00 -- -- AL137716 0.60 1.00 0.82 1
208435_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
216219_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
About this table

AQP6 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
AQP6 gene expression
AQP6 gene electronic northern expression
AQP6 gene sage expression
About these images

CGAP SAGE TAG: ACCTGGGTCA

SOURCE GeneReport for Unigene cluster: Hs.54505

Expression variation in blood from EXPOLDB for AQP6

Primers: OriGene genome-wide validated SYBR primer pairs: AQP6
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for AQP6: PPH09464A
    SABiosciences Custom PCR Arrays for AQP6 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for AQP6 gene from 5/7 species (see all 7)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
AQP61   -- aquaporin 6, kidney specific 83.77(n)
80.52(a)
607978  XM_856403.1  XP_861496.1 
chimpanzee
(Pan troglodytes)
AQP61   -- aquaporin 6, kidney specific 99.41(n)
98.94(a)
741338  XM_001157230.1  XP_001157230.1 
cow
(Bos taurus)
AQP61   -- aquaporin 6, kidney specific 81.59(n)
78.7(a)
527759  XM_606158.2  XP_606158.2 
rat
(Rattus norvegicus)
Aqp61   -- aquaporin 6, kidney specific 80.41(n)
78.1(a)
29170  NM_022181.1  NP_071517.1 
mouse
(Mus musculus)
Aqp61 , 5 15 (56.13 cM)5
aquaporin 61, 5 80.22(n)1
77.66(a)1
118311  NM_175087.31  NP_780296.11 
 AI4523385  AI7903375  (see all 14)
About this table        Species with no ortholog for AQP6

ENSEMBL Gene Tree for AQP6 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for AQP6 gene
ENSG000002504242  AQP82  AQP22  MIP2  AQP52  AQP12  AQP42  

AQP6 for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
QIAGEN SeqTarget long-range PCR primers for resequencing AQP6 

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AQP6 for disorders           About GeneDecksing

OMIM: 601383


Export disorders and mutations for AQP6 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section
  --

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

10/19 PubMed articles for AQP6 gene, integrated from 7 sources (see all 19):
(articles sorted by number of sources associating them with AQP6)
  1. cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13. (PubMed id 8812490)1, 2, 3, 7 Ma T.... Verkman A.S. (1996)
  2. Characterization of aquaporin-6 as a nitrate channel in mammalian cells. Requirement of pore-lining residue threonine 63. (PubMed id 12177001)1, 7 Ikeda M....Yasui M. (2002)
  3. Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13. (PubMed id 9268644)1, 7 Ma T....Verkman A.S. (1997)
  4. Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and aco ustic neuroma. (PubMed id 20461409)1 Ishiyama G....Ishiyama A. (2010)
  5. Gene expression profiling of chromophobe renal cell c arcinomas and renal oncocytomas by Affymetrix GeneChip using pooled and individ ual tumours. (PubMed id 19680475)1 Yusenko M.V....Kovacs G. (2009)
  6. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
  7. Aquaporin expression in developing human teeth and selected orofacial tissues. (PubMed id 12522663)1 Wang W....Hart T.C. (2003)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  9. Conversion of aquaporin 6 from an anion channel to a water-selective channel by a single amino acid substitution. (PubMed id 15671159)7 Liu K....Yasui M. (2005)
  10. pH regulated anion permeability of aquaporin-6. (PubMed id 19096784)7 Yasui M. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
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  Query String
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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
Entrez Gene: 363 HGNC: 639 AceView: AQP6 Ensembl:ENSG00000086159 euGenes: HUgn363
ECgene: AQP6 H-InvDB: AQP6

(According to HUGE)
About This Section
  --

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from XenneX, Inc.)
About This Section
Patent Information for AQP6 gene:
Search GeneIP for patents involving AQP6

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



(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
About This Section

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