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, Ju... See more...

Aliases for AQP6 Gene

Aliases for AQP6 Gene

  • Aquaporin 6 2 3 5
  • Kidney-Specific Aquaporin 3 4
  • Aquaporin-6 3 4
  • AQP2L 3 4
  • AQP-6 3 4
  • HKID 3 4
  • Aquaporin 2-Like, Kidney Specific 3
  • Aquaporin-6, Kidney Specific 3
  • Aquaporin 6, Kidney Specific 2
  • Aquaporin-2-Like 4
  • KID 3

External Ids for AQP6 Gene

Previous HGNC Symbols for AQP6 Gene

  • AQP2L

Previous GeneCards Identifiers for AQP6 Gene

  • GC12P050655
  • GC12P050417
  • GC12P050077
  • GC12P048647
  • GC12P047398

Summaries for AQP6 Gene

Entrez Gene Summary 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aquaporin-mediated transport. Gene Ontology (GO) annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP2.

UniProtKB/Swiss-Prot Summary for AQP6 Gene

  • Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.

Tocris Summary for AQP6 Gene

  • 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.

Additional gene information for AQP6 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP6 Gene

Genomics for AQP6 Gene

GeneHancer (GH) Regulatory Elements for AQP6 Gene

Promoters and enhancers for AQP6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J049966 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 755.3 -0.1 -93 2.2 GTF3C2 ZNF785 SIN3A ZBTB40 CTCF ZBTB6 RBPJ MIXL1 MYC CC2D1A AQP6 lnc-RACGAP1-3 KMT2D LMBR1L ATF1 LOC100422296 RPL35AP28 BCDIN3D PRPF40B SMARCD1
GH12J049972 Promoter 0.5 EPDnew 750.4 +5.8 5770 0.1 ZFHX2 ZNF48 AQP6 LOC105369764 LOC102723963
GH12J050057 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +90.4 90376 2.5 ZNF785 SIN3A CTCF ZNF133 CC2D1A ZNF701 L3MBTL2 ZFP41 MAX MNT ASIC1 SMARCD1 LIMA1 SPATS2 KMT2D LMBR1L ATF1 CERS5 ENSG00000257298 PRPF40B
GH12J050024 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 +57.9 57907 2.6 PPP1R10 SIN3A ZBTB40 SP1 SIX5 LCORL FOXA1 MLX RBPJ POLR2A RACGAP1 SMARCD1 LMBR1L KMT2D BCDIN3D PRPF40B SPATS2 TROAP ASIC1 ATF1
GH12J050039 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 +72.0 72007 3.2 CTCF CC2D1A HLF L3MBTL2 MAX RAD21 DACH1 TEAD4 GTF2F1 CEBPG AQP6 AQP5 AQP2 LIMA1 RACGAP1 LARP4 ASIC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AQP6 gene promoter:
  • AML1a
  • CP2
  • FOXL1
  • LCR-F1
  • MyoD
  • p53
  • Pax-4a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for AQP6 Gene

Genomic Locations for AQP6 Gene
chr12:49,967,194-49,977,139
(GRCh38/hg38)
Size:
9,946 bases
Orientation:
Plus strand
chr12:50,360,977-50,370,922
(GRCh37/hg19)
Size:
9,946 bases
Orientation:
Plus strand

Genomic View for AQP6 Gene

Genes around AQP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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

    Three dimensional structures from OCA and Proteopedia for AQP6 Gene

neXtProt entry for AQP6 Gene

Post-translational modifications for AQP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AQP6 Gene

No data available for DME Specific Peptides for AQP6 Gene

Domains & Families for AQP6 Gene

Gene Families for AQP6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for AQP6 Gene

Suggested Antigen Peptide Sequences for AQP6 Gene

GenScript: Design optimal peptide antigens:
  • Kidney-specific aquaporin (AQP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13520

UniProtKB/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.
genes like me logo Genes that share domains with AQP6: view

Function for AQP6 Gene

Molecular function for AQP6 Gene

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.
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

Phenotypes From GWAS Catalog for AQP6 Gene

Gene Ontology (GO) - Molecular Function for AQP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015112 nitrate transmembrane transporter activity IBA 21873635
GO:0015250 water channel activity TAS,IBA 21873635
GO:0015267 channel activity IEA --
genes like me logo Genes that share ontologies with AQP6: view
genes like me logo Genes that share phenotypes with AQP6: view

Animal Models for AQP6 Gene

MGI Knock Outs for AQP6:
  • Aqp6 Aqp6<tm1b(EUCOMM)Hmgu>
  • Aqp6 Aqp6<tm1Mysi>

Animal Model Products

CRISPR Products

miRNA for AQP6 Gene

miRTarBase miRNAs that target AQP6

Clone 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AQP6 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for AQP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0005887 integral component of plasma membrane TAS 8812490
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
GO:0016324 apical plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with AQP6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AQP6 Gene

Pathways & Interactions for AQP6 Gene

genes like me logo Genes that share pathways with AQP6: view

Pathways by source for AQP6 Gene

1 Qiagen pathway for AQP6 Gene
  • eNOS Signaling

Gene Ontology (GO) - Biological Process for AQP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006833 water transport IEA --
GO:0007588 excretion TAS 8812490
GO:0015706 nitrate transport IEA --
GO:0042476 odontogenesis IEP 12522663
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with AQP6: view

No data available for SIGNOR curated interactions for AQP6 Gene

Drugs & Compounds for AQP6 Gene

(2) Drugs for AQP6 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hg<sup>2+</sup> Pharma Inhibitor 0
genes like me logo Genes that share compounds with AQP6: view

Transcripts for AQP6 Gene

mRNA/cDNA for AQP6 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

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

Relevant External Links for AQP6 Gene

GeneLoc Exon Structure for
AQP6
ECgene alternative splicing isoforms for
AQP6

Expression for AQP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP6 Gene

This gene is overexpressed in Kidney - Cortex (x40.3).

Protein differential expression in normal tissues from HIPED for AQP6 Gene

This gene is overexpressed in Stomach (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AQP6 Gene



Protein tissue co-expression partners for AQP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP6 Gene:

AQP6

SOURCE GeneReport for Unigene cluster for AQP6 Gene:

Hs.54505

Evidence on tissue expression from TISSUES for AQP6 Gene

  • Kidney(4.5)
genes like me logo Genes that share expression patterns with AQP6: view

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.

Orthologs for AQP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQP6 33 32
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AQP6 33 32
  • 84.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AQP6 33 32
  • 81.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp6 17 33 32
  • 80.34 (n)
rat
(Rattus norvegicus)
Mammalia Aqp6 32
  • 80.24 (n)
lizard
(Anolis carolinensis)
Reptilia AQP6 33
  • 59 (a)
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)

Evolution for AQP6 Gene

ENSEMBL:
Gene Tree for AQP6 (if available)
TreeFam:
Gene Tree for AQP6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AQP6: view image

Paralogs for AQP6 Gene

(7) SIMAP similar genes for AQP6 Gene using alignment to 2 proteins:

  • AQP6_HUMAN
  • F8VW87_HUMAN
genes like me logo Genes that share paralogs with AQP6: view

Variants for AQP6 Gene

Sequence variations from dbSNP and Humsavar for AQP6 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000954142 -- 49,972,564(+) G/A upstream_transcript_variant
rs1003184002 -- 49,976,478(+) T/C 3_prime_UTR_variant
rs1004616008 -- 49,977,363(+) G/A downstream_transcript_variant
rs1004807769 -- 49,971,872(+) A/G upstream_transcript_variant
rs1006158804 -- 49,972,041(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for AQP6 Gene

Variant ID Type Subtype PubMed ID
nsv522972 CNV gain 19592680
nsv558835 CNV gain 21841781
nsv558837 CNV loss 21841781
nsv832407 CNV loss 17160897

Variation tolerance for AQP6 Gene

Residual Variation Intolerance Score: 78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.70; 73.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP6 Gene

Disorders for AQP6 Gene

Additional Disease Information for 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

  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. (PMID: 8812490) Ma T … Verkman AS (Genomics 1996) 2 3 4 23 56
  2. Characterization of aquaporin-6 as a nitrate channel in mammalian cells. Requirement of pore-lining residue threonine 63. (PMID: 12177001) Ikeda M … Yasui M (The Journal of biological chemistry 2002) 3 23 56
  3. Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13. (PMID: 9268644) Ma T … Verkman AS (Genomics 1997) 3 23 56
  4. Expression of AQP6 and AQP8 in epithelial ovarian tumor. (PMID: 26779650) Ma J … Chen X (Journal of molecular histology 2016) 3 56
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56

Products for AQP6 Gene

Sources for AQP6 Gene