Aliases &
Descriptions
for AQP6 gene
(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 | | |
Export aliases for AQP6 gene to outside databasesPrevious GC identifers: GC12P050655 GC12P050417 GC12P050077 GC12P048647 |
Summaries
for AQP6 gene(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 afamily of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein isspecific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome12q13. (provided by RefSeq)
UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520Function: Forms a water-specific channel that participates in distinct physiological functions such as glomerularfiltration, tubular endocytosis and acid-base metabolism (By similarity)
|
Genomic Views
for AQP6 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 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: 12q13AQP6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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
|
Proteins
for AQP6 gene
(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
5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6): About this table
AQP6 for ontologies About GeneDecksing
Antibodies for AQP6:
Assays for AQP6: |
Protein
Domains/
Families
for AQP6 gene(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:Graphical View of Domain Structure for InterPro Entry Q13520ProtoNet protein and cluster: Q13520 1 Blocks protein family: IPB000425 MIP family
UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520Domain: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loopwith the signature motif Asn-Pro-Ala (NPA)Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family |
Gene Function
for AQP6 gene
(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, Q13520Function: Forms a water-specific channel that participates in distinct physiological functions such as glomerularfiltration, tubular endocytosis and acid-base metabolism (By similarity)
Genatlas biochemistry entry for AQP6:aquaporin 2-like,water channel forming integral protein,exclusively localized in intracellular membranes in renalepithelial,located in intracellular membrane vesicles in glomeruli,in subapical compartment of segments 2 and 3 cellsand in collecting ducts,potentially involved in glomerular filtration,tubular endocytosis and acid-base metabolism4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
AQP6 for ontologies About GeneDecksing
|
Pathways & Interactions
for AQP6 gene
(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): About this table
AQP6 for ontologies About GeneDecksing
|
Drugs & Compounds
for AQP6 gene(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 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
|
Transcripts
for AQP6 gene(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
|
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)
|
Expression
for AQP6 gene
(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
About these images
CGAP SAGE TAG: ACCTGGGTCA
SOURCE GeneReport for Unigene cluster: Hs.54505
Expression variation in blood from EXPOLDB for AQP6 SABiosciences Custom PCR Arrays for AQP6
|
Orthologs
for AQP6 gene
(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)
About this table Species with no ortholog for AQP6
ENSEMBL Gene Tree for AQP6 (if available) |
Paralogs
for AQP6 gene(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
|
Genomic Variants
for AQP6 gene(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 |
|
Disorders & Mutations
for AQP6 gene
(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
|
Medical News
for AQP6 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for AQP6 gene (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)- 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)
- 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)
- 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)
- 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)
- 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)
- The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
- Aquaporin expression in developing human teeth and selected orofacial tissues. (PubMed id 12522663)1 Wang W....Hart T.C. (2003)
- 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)
- 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)
- pH regulated anion permeability of aquaporin-6. (PubMed id 19096784)7 Yasui M. (2009)
|
External Searches for AQP6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AQP6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AQP6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AQP6 gene(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
|
|
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
|
Products
for AQP6 gene(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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| |  | Search Tocris compounds for AQP6 |
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 | | | ELISAs and CLIAs for AQP6 |
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