Aliases for AQP6 Gene
Aliases for AQP6 Gene
External Ids for AQP6 Gene
- HGNC: 639
- Entrez Gene: 363
- Ensembl: ENSG00000086159
- OMIM: 601383
- UniProtKB: Q13520
Previous HGNC Symbols for AQP6 Gene
- AQP2L
Previous GeneCards Identifiers for AQP6 Gene
- GC12P050655
- GC12P050417
- GC12P050077
- GC12P048647
- GC12P047398
Summaries for AQP6 Gene
-
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, Jul 2008]
GeneCards Summary for AQP6 Gene
AQP6 (Aquaporin 6) is a Protein Coding gene. Among its related pathways are Aquaporin-mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP2.
UniProtKB/Swiss-Prot for AQP6 Gene
-
Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.
-
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.
No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP6 Gene
Genomics for AQP6 Gene
Regulatory Elements for AQP6 Gene
Regulatory Element Products
Genomic Location for AQP6 Gene
- Chromosome:
- 12
- Start:
- 49,967,194 bp from pter
- End:
- 49,977,139 bp from pter
- Size:
- 9,946 bases
- Orientation:
- Plus strand
Genomic View for AQP6 Gene
- Cytogenetic band:
-
- 12q13.12 by Ensembl
- 12q13.12 by Entrez Gene
- 12q13.12 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AQP6 Gene
Proteins for AQP6 Gene
-
Protein details for AQP6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13520-AQP6_HUMAN
- Recommended name:
- Aquaporin-6
- Protein Accession:
- Q13520
Protein attributes for AQP6 Gene
- Size:
- 282 amino acids
- Molecular mass:
- 29370 Da
- Quaternary structure:
- No Data Available
Protein Expression for AQP6 Gene
Post-translational modifications for AQP6 Gene
Other Protein References for AQP6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for AQP6
-
Custom Antibody ServicesOriGene Antibodies for AQP6
- Novus Biologicals Antibodies for AQP6
- Invitrogen Antibodies for AQP6
- antibodies-online Antibodies for AQP6: See all 15
- GeneTex AQP6 antibody for AQP6
Protein Products
-
OriGene Purified Proteins for AQP6
- Search Origene for MassSpec and Protein Over-expression Lysates for AQP6
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Assay Products
- antibodies-online Kits for AQP6: See all 1
No data available for DME Specific Peptides for AQP6 Gene
Domains & Families for AQP6 Gene
Gene Families for AQP6 Gene
- HGNC:
- IUPHAR :
Protein Domains for AQP6 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AQP6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13520UniProtKB/Swiss-Prot:
AQP6_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.
Function for AQP6 Gene
Molecular function for AQP6 Gene
- GENATLAS Biochemistry:
- 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
- UniProtKB/Swiss-Prot Function:
- Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005253 | anion channel activity | EXP | 8812490 |
| GO:0015112 | nitrate transmembrane transporter activity | IEA | -- |
| GO:0015250 | water channel activity | TAS | 8812490 |
Phenotypes for AQP6 Gene
- MGI mutant phenotypes for AQP6:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AQP6:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for AQP6 gene
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CRISPR Products
-
OriGene CRISPR knockouts for AQP6
-
Santa Cruz Biotechnology (SCBT) CRISPR for AQP6
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miRNA for AQP6 Gene
- miRTarBase miRNAs that target AQP6
-
- hsa-mir-3178 (MIRT495839)
- hsa-mir-4479 (MIRT495840)
- hsa-mir-1273e (MIRT620290)
- hsa-mir-887-5p (MIRT620291)
- hsa-mir-6780a-5p (MIRT620292)
- hsa-mir-6779-5p (MIRT620293)
- hsa-mir-3689c (MIRT620294)
- hsa-mir-3689b-3p (MIRT620295)
- hsa-mir-3689a-3p (MIRT620296)
- hsa-mir-30b-3p (MIRT620297)
- hsa-mir-1273h-5p (MIRT620298)
- hsa-mir-6788-5p (MIRT620299)
- hsa-mir-30c-2-3p (MIRT620300)
- hsa-mir-30c-1-3p (MIRT620301)
- hsa-mir-623 (MIRT620302)
- hsa-mir-6799-5p (MIRT620303)
- hsa-mir-6883-5p (MIRT620304)
- hsa-mir-6785-5p (MIRT620305)
- hsa-mir-4728-5p (MIRT620306)
- hsa-mir-149-3p (MIRT620307)
- hsa-mir-7106-5p (MIRT620308)
- hsa-mir-7160-5p (MIRT620309)
- hsa-mir-4722-5p (MIRT620310)
- hsa-mir-6884-5p (MIRT620311)
- hsa-mir-485-5p (MIRT620312)
- hsa-mir-1827 (MIRT620313)
- hsa-mir-4649-3p (MIRT620314)
- hsa-mir-6780b-3p (MIRT620315)
- hsa-mir-4780 (MIRT620316)
- hsa-mir-665 (MIRT620317)
- hsa-mir-4768-3p (MIRT620318)
- hsa-mir-5690 (MIRT620319)
- hsa-mir-6866-3p (MIRT620320)
- hsa-mir-188-5p (MIRT620321)
- hsa-mir-4478 (MIRT620322)
- hsa-mir-4419b (MIRT620323)
- hsa-mir-3929 (MIRT620324)
- hsa-mir-940 (MIRT620325)
- hsa-mir-6893-5p (MIRT620326)
- hsa-mir-6808-5p (MIRT620327)
- hsa-mir-890 (MIRT620328)
- hsa-mir-7977 (MIRT635591)
miRNA Products
- Search ViGene Biosciences for AQP6
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for AQP6
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-
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AQP6
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for AQP6
-
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-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AQP6 Gene
Localization for AQP6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AQP6 Gene
- Cytoplasmic vesicle membrane; Multi-pass membrane protein.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005887 | integral component of plasma membrane | TAS | 8812490 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0016324 | apical plasma membrane | IBA | -- |
| GO:0030658 | transport vesicle membrane | TAS | -- |
Pathways & Interactions for AQP6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Aquaporin-mediated transport | ||
| 2 | Nanog in Mammalian ESC Pluripotency |
.48
|
|
| 3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
Pathways by source for AQP6 Gene
3 Reactome pathways for AQP6 Gene
1 Qiagen pathway for AQP6 Gene
Interacting Proteins for AQP6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | TAS,IEA | 8812490 |
| GO:0006833 | water transport | TAS | -- |
| GO:0007588 | excretion | TAS | 8812490 |
| GO:0015706 | nitrate transport | IEA | -- |
| GO:0034220 | ion transmembrane transport | IBA | -- |
No data available for SIGNOR curated interactions for AQP6 Gene
Drugs & Compounds for AQP6 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Hg<sup>2+</sup> | Pharma | Inhibitor | 0 |
Transcripts for AQP6 Gene
mRNA/cDNA for AQP6 Gene
- (2) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (7) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AQP6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for AQP6
-
Santa Cruz Biotechnology (SCBT) CRISPR for AQP6
- GenScript: Design CRISPR guide RNA sequences for AQP6
miRNA Products
- Search ViGene Biosciences for AQP6
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for AQP6
- Browse OriGene Inhibitory RNA Products For AQP6
-
ViGene Biosciences ready-to-package AAV shRNAs for AQP6 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AQP6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AQP6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||
| SP2: | - | - | |||||||||||||||
| SP3: |
Expression for AQP6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- Brain (Nervous System)
-
Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for AQP6 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AQP6 Gene
NURSA nuclear receptor signaling pathways regulating expression of AQP6 Gene:
AQP6SOURCE GeneReport for Unigene cluster for AQP6 Gene:
Hs.54505Evidence on tissue expression from TISSUES for AQP6 Gene
- Kidney(4.5)
Primer Products
-
OriGene qPCR primer pairs for AQP6
-
OriGene qPCR primer pairs and template standards for AQP6
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP6 Gene
Orthologs for AQP6 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AQP6 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | AQP6 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | AQP6 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Aqp6 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aqp6 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AQP6 35 |
|
OneToOne |
- Species where no ortholog for AQP6 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)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- 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)
- fruit fly (Drosophila melanogaster)
- 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)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for AQP6 Gene
Variants for AQP6 Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000954142 | -- | 49,972,564(+) | TGGAG(A/G)AGGGA | intron-variant, upstream-variant-2KB | |
| rs1003184002 | -- | 49,976,478(+) | CGATC(C/T)GCCCA | downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime | |
| rs1003241825 | -- | 49,970,889(+) | CGGGG(A/T)GGAGA | intron-variant, upstream-variant-2KB | |
| rs1004616008 | -- | 49,977,363(+) | ATGAA(A/G)AGGCG | intron-variant, downstream-variant-500B, upstream-variant-2KB | |
| rs1004807769 | -- | 49,971,872(+) | CCCAG(A/G)TGCCA | intron-variant, upstream-variant-2KB |
Relevant External Links for AQP6 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AQP6
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP6 Gene
Disorders for AQP6 Gene
Relevant External Links for AQP6
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- AQP6
No disorders were found for AQP6 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AQP6 Gene
Publications for AQP6 Gene
- 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. (PMID: 8812490) Ma T. … Verkman A.S. (Genomics 1996) 2 3 4 22 64
- Characterization of aquaporin-6 as a nitrate channel in mammalian cells. Requirement of pore-lining residue threonine 63. (PMID: 12177001) Ikeda M. … Yasui M. (J. Biol. Chem. 2002) 3 22 64
- Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13. (PMID: 9268644) Ma T. … Verkman A.S. (Genomics 1997) 3 22 64
- Expression of AQP6 and AQP8 in epithelial ovarian tumor. (PMID: 26779650) Ma J. … Chen X. (J. Mol. Histol. 2016) 3 64
- Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and acoustic neuroma. (PMID: 20461409) Ishiyama G. … Ishiyama A. (Cell Tissue Res. 2010) 3 64
Products for AQP6 Gene
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- Novus Biologicals
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- antibodies-online Antibodies for AQP6: See all 15
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- Search antibodies-online for proteins
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- GeneTex AQP6 antibody for AQP6
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- Horizon Cell Lines for AQP6
- Cyagen custom Knockout/knockin (KOKI) mouse models for AQP6
- VectorBuilder custom plasmid, inducible vectors for AQP6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AQP6
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for AQP6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
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- (95) BioSystems
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- (97) IUPHAR
- (98) BioGPS
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- (100) COMPARTMENTS
- (101) HOMER
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- (105) antibodies-online
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- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




