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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AQP3 Gene

protein-coding GIFtS: 64
GCID: GC09M033431

aquaporin 3 (Gill blood group)

(Previous names: aquaporin 3, aquaporin 3 (GIL blood group) )

Explore 33 diseases affiliated with
AQP3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aquaporin 3 (Gill Blood Group)¹ ²		Aquaporin 3¹
GIL¹ ²		Aquaglyceroporin-3³
Aquaporin 3 (GIL Blood Group)¹ ²		Aquaporin-3¹
AQP-3² ³		Aquaglyceroporin-3³

External Ids:	HGNC: 636¹	Entrez Gene: 360²	Ensembl: ENSG00000165272⁷	OMIM: 600170⁵	UniProtKB: Q92482³

Export aliases for AQP3 gene to outside databases

Previous GC identifers: GC09M033753 GC09M033610

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

Entrez Gene summary for AQP3:

This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins

related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral

membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been

found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has

been suggested that water channels can be functionally heterogeneous and possess water and solute permeation

mechanisms. (provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482

Function: Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a

glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol

content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with

high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly

permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may

play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity)

Gene Wiki entry for AQP3 (Aquaporin 3)

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

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AQP3 gene promoter:
USF1 NRSF form 1 CUTL1 HNF-4alpha2 NRSF form 2 HNF-4alpha1 FAC1 USF-1 Hlf RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AQP3 promoter sequence

Search SABiosciences Chromatin IP Primers for AQP3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP3

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

AQP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP3 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M033431: view genomic region (about GC identifiers)

Start:	33,441,152 bp from pter	End:	33,447,609 bp from pter
Size:	6,458 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482 (See protein sequence)

Recommended Name: Aquaporin-3

Size: 292 amino acids; 31544 Da

Subcellular location: Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney

Secondary accessions: A8K843 B2RE16 D3DRL3 O00108 Q6FGT2 Q6FGW6

Alternative splicing: 2 isoforms: Q92482-1 Q92482-2 (Due to a polymorphism at the 5'-splice donor site of intron 5, leading to exon 5 skipping and premature termination of translation. This is the molecular basis of the GIL blood group)

Explore the universe of human proteins at neXtProt for AQP3: NX_Q92482

AQP3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004916.1

ENSEMBL proteins:

ENSP00000297991

Reactome Protein details: Q92482
Human Recombinant Protein Products for AQP3:

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	Uscn Proteins for AQP3

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	19545896
GO:0005886	plasma membrane	TAS	--
GO:0005911	cell-cell junction	IDA	18718702
GO:0016021	integral to membrane	IC	17943189
GO:0016323	basolateral plasma membrane	IEA	--

AQP3 for ontologies About GeneDecksing

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Assay Products for AQP3:

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	Uscn ELISAs and CLIAs for AQP3

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

AQP3 for domains About GeneDecksing

4 InterPro domains/families:

IPR023275 Aquaporin_3

IPR022357 MIP_CS

IPR023271 Aquaporin-like

IPR000425 MIP

Graphical View of Domain Structure for InterPro Entry Q92482

ProtoNet protein and cluster: Q92482

1 Blocks protein family: IPB000425 MIP family

UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AQP3_HUMAN, Q92482

Function: Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a

glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol

content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with

high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly

permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may

play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity)

Induction: Up-regulated by magnesium

Genatlas biochemistry entry for AQP3:

aquaporin 3,water channel,forming integral protein (basolateral membrane of collecting duct cell),providing the exit

pathway to interstitium,also expressed in colon,localized in villus epithelial cells,involved in water absorption

across human colonic surface cells

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	NAS	7543093
GO:0015250	water channel activity	TAS	17943189
GO:0015254	glycerol channel activity	IDA	17943189

AQP3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for AQP3:

Decreased Wnt reporter activit

13 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Aqp3):

behavior/neurological	cardiovascular system	craniofacial	digestive/alimentary	growth/size
hearing/vestibular/ear	homeostasis/metabolism	immune system	mortality/aging	renal/urinary system
respiratory system	taste/olfaction	vision/eye

AQP3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Aqp3^tm1Ask for AQP3

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for AQP3

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		hsa-miR-3163 hsa-miR-194 hsa-miR-3159 hsa-miR-874
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of Water Balance by Renal Aquaporins

Regulation of Water Balance by Renal Aquaporins

1.00

Aquaporin-mediated transport

0.84

Passive Transport by Aquaporins

Passive Transport by Aquaporins

1.00

Stabilization and expansion of the E-cadherin adherens junction

Stabilization and expansion of the E-cadherin adherens junction

1.00

Vasopressin-regulated water reabsorption

Vasopressin-regulated water reabsorption

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP3

eNOS Signaling

1 BioSystems Pathway for AQP3

Stabilization and expansion of the E-cadherin adherens junction

4 Reactome Pathways for AQP3

	Transmembrane transport of small molecules
	Aquaporin-mediated transport
	Regulation of Water Balance by Renal Aquaporins
	Passive Transport by Aquaporins

1 Kegg Pathway (Kegg details for AQP3):

Vasopressin-regulated water reabsorption

AQP3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AQP3

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/8 Interacting proteins for AQP3 (Q92482³ ENSP00000297991⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLD2	O14939³, ENSP00000263088⁴	I2D: score=3 STRING: ENSP00000263088
CAV1	Q03135³, ENSP00000339191⁴	I2D: score=1 STRING: ENSP00000339191
ATP5B	P06576³	I2D: score=4
AQP2	ENSP00000199280⁴	STRING: ENSP00000199280
STX4	ENSP00000317714⁴	STRING: ENSP00000317714

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002684	positive regulation of immune system process	IDA	17943189
GO:0006810	transport	NAS	7543093
GO:0006833	water transport	TAS	17943189
GO:0007588	excretion	TAS	7543093
GO:0015793	glycerol transport	--	--

AQP3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AQP3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AQP3

1 HMDB Compound for AQP3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

10/19 Novoseek chemical compound relationships for AQP3 gene (see all 19) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycerol	76.2	68	8810261 (4), 16872579 (3), 15456785 (3), 17967887 (3) (see all 32)
pcmbs	56.6	1	8810261 (1)
urea	56.5	15	8810261 (3), 7517548 (2), 20149227 (1), 11597198 (1) (see all 9)
hgcl2	55.9	1	9369468 (1)
mercury chloride	48.4	1	9124401 (1)
retinoic acid	32.4	45	18636178 (7), 17943189 (6), 18064629 (5), 19184071 (1) (see all 7)
mannitol	19.4	3	15898954 (1), 11750058 (1)
2-mercaptoethanol	18.6	1	9124401 (1)
oligonucleotide	11.1	4	12769265 (1), 10510269 (1)
forskolin	9.09	2	16638588 (1)

Search CenterWatch for drugs/clinical trials and news about AQP3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AQP3 gene:

NM_004925.4

Unigene Cluster for AQP3:

Aquaporin 3 (Gill blood group)

Hs.234642 [show with all ESTs]

Unigene Representative Sequence: NM_004925

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000297991(uc003zsx.3 uc010mju.3) ENST00000493581(uc003zsv.2)

ENST00000494193 ENST00000494313 ENST00000463983 ENST00000473153

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Additional cDNA sequence:

AJ493597.1 AK292208.1 AK315760.1 BC012988.2 BC013566.1 BT007199.1 CR541991.1 CR542025.1

20 DOTS entries:

DT.450022 DT.100788373 DT.100788368 DT.100727049 DT.100788375 DT.121162831 DT.121162856 DT.121162819

DT.121162838 DT.97864190 DT.100645939 DT.100762945 DT.121162844 DT.95149103 DT.95261961 DT.95261964

DT.95261965 DT.95261971 DT.100682373 DT.121162826

24/318 AceView cDNA sequences (see all 318):

AL556191 CB242362 BP334437 BM549986 AI283954 CR607893 BQ224811 BP335063

CA443734 CR599072 AI356959 CR624600 AW591193 BU168336 CR604170 BC013566

NM_004925 BU540697 BP340092 BU741524 BF437236 BP338021 AW170384 AW028306

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AQP3 (see all 7) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6	^	7a	·	7b	·	7c
SP1:							-				-		-
SP2:							-				-		-						-
SP3:											-		-
SP4:							-						-
SP5:

ECgene alternative splicing isoforms for AQP3

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AQP3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGCTTTTG

About this image

AQP3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Renal Collecting Duct System

Collecting Duct Cells

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Adult human kidney epithelial cells (Primary Cell)

Kidney

Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)

Epithelium, Kidney

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)

Epithelium, Kidney

See AQP3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AQP3

SOURCE GeneReport for Unigene cluster: Hs.234642

UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482

Tissue specificity: Widely expressed in epithelial cells of kidney (collecting ducts) and airways, in keratinocytes,

immature dendritic cells and erythrocytes. Isoform 2 is not detectable in erythrocytes at the protein level

SABiosciences Expression via Pathway-Focused PCR Array including AQP3:

Osmotic Stress in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP3

(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

This gene was present in the last universal common ancestor (LUCA).

Orthologs for AQP3 gene from 9/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	AQP3¹	aquaporin 3 (Gill blood group)	74.32(n) 81.16(a)		426894 XM_424500.3 XP_424500.3
lizard (Anolis carolinensis)	Reptilia	AQP3⁶	--	79(a)	1 ↔ 1	GL343372.1(558455-574923)
African clawed frog (Xenopus laevis)	Amphibia	aqp3²	aquaporin-3	75.6(n)		AJ131847.1
zebrafish (Danio rerio)	Actinopterygii	Dr.922²	Danio rerio mRNA similar to aquaporin 3 (cDNA clone more	76.37(n)		BC044188.1
worm (Caenorhabditis elegans)	Secernentea	C01G6.1b³	Major intrinsic protein	44(a) (best of 4)		II(9259518-9261883) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	(YFL054C)⁴ YFL054C¹	Putative channel-like protein; similar to Fps1p; mediates more⁴ hypothetical protein¹	48.12(n)¹ 37.97(a)¹		6(22787-20847)⁴ 850490^{1, 4} NP_116601.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	NLM4⁶ NLM6⁶ (see all 9)	putative aquaporin NIP7-1 (see all 9)	23(a) 22(a) (see all 9)	possible ortholog possible ortholog (see all 9)	5(15045232-15047807) 3(1841171-1843093)
rice (Oryza sativa)	Liliopsida	-- -- (see all 12)	aquaporin protein, putative, expressed (see all 12)	23(a) 23(a) (see all 12)	possible ortholog possible ortholog (see all 12)	2(7515989-7519336) 5(6539758-6544751)
E. coli (Escherichia coli)	Gamma proteobacteria	glpF⁶	glycerol facilitator	37(a)	possible ortholog	Chromosome(4115268-4116113)

ENSEMBL Gene Tree for AQP3 (if available)
TreeFam Gene Tree for AQP3 (if available)

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

Paralogs for AQP3 gene

AQP9² AQP10² AQP7²

5 SIMAP similar genes for AQP3 using alignment to 2 protein entries: AQP3_HUMAN (see all proteins):

AQP9 AQP7P3 AQP7 bA251O17.3 AQP10

AQP3 for paralogs About GeneDecksing

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

UniProtKB/Swiss-Prot: AQP3_HUMAN, Q92482

Polymorphism: AQP3 is responsible for the GIL blood group system. Isoform 2 is detected in GIL-negative individuals

that lack functional AQP3

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7855649^1,2	C,A	--	33405884(+)	`GTTAGT/CCCTGT`	1	--	us2k¹		3		NA	142
rs184414672^1,2		--	33440731(+)	`AGCCTA/GAATAG`	1	--	ds500¹		0	--	--	--	--
rs144098912^1,2		--	33440762(+)	`TACAGA/GTTCCC`	1	--	ds500¹		0	--	--	--	--
rs187224687^1,2		--	33440780(+)	`TGGGTA/CTCCTC`	1	--	ds500¹		0	--	--	--	--
rs191633984^1,2		--	33440894(+)	`TGTGGC/GTACAG`	1	--	ds500¹		0	--	--	--	--
rs34496252^1,2	C,F	--	33440966(-)	`CCCAAA/GCTTTC`	1	--	ds500¹		4		NS NA WA	214
rs183970358^1,2		--	33441156(+)	`CTGGAC/GGTTTT`	1	--	ut3¹		0	--	--	--	--
rs189427585^1,2	C	--	33441303(+)	`ACATTA/CAAAAC`	1	--	ut3¹		0	--	--	--	--
rs182267599^1,2		--	33441363(+)	`CCTTCA/GTGCCT`	1	--	ut3¹		0	--	--	--	--
rs12378288^1,2	H	--	33441431(+)	`CAAACC/GTAAGC`	1	--	ut3¹ spl³ ese³		4		NS EA	420

HapMap Linkage Disequilibrium report for AQP3 (33441152 - 33447609 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for AQP3
1 CNV: 52808
Human Gene Mutation Database (HGMD): AQP3
Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP3

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(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

AQP3 for disorders           About GeneDecksing

OMIM gene information: 600170
OMIM disorders: 607457
20/33 diseases for AQP3 (see all 33):    About MalaCards

blood group gil nephrogenic diabetes insipidus collecting duct carcinoma diabetes insipidus

bullous keratopathy ureteral obstruction keratopathy oral squamous cell carcinoma

cystic fibrosis squamous cell carcinoma polycystic kidney disease eczema

oligohydramnios polyhydramnios kidney disease sjogren's syndrome

constipation vitiligo fibrosis adenocarcinoma

2 diseases from the University of Copenhagen DISEASES database for AQP3:

Nephrogenic diabetes insipidus Urinary tract obstruction

9 Novoseek disease relationships for AQP3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adenocarcinoma lung	37.1	1	17056099 (1)
nephrotic syndrome	17.3	1	20142913 (1)
eczema	12.4	3	16918518 (2), 16872579 (1)
adenocarcinoma	0.686	7	17056099 (4), 18604784 (1), 19340551 (1)
lung diseases	0	1	9374739 (1)
tumors	0	11	17056099 (2), 19619514 (2), 11912242 (1), 18214481 (1) (see all 7)
carcinoma	0	2	17056099 (1), 20106632 (1)
cystic fibrosis	0	2	10206998 (1), 10869574 (1)
edema	0	1	16872579 (1)

Human Genome Epidemiology (HuGE) Navigator: AQP3 (4 documents)

Export disorders for AQP3 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

PubMed articles for AQP3 gene, integrated from 9 sources (see all 181):
(articles sorted by number of sources associating them with AQP3)

Utopia: connect your pdf to the dynamic
world of online information

Structure and chromosomal localization of a human water channel (AQP3) gene. (PubMed id 7558005)^{1, 2, 3, 9} Ishibashi K.... Marumo F. (1995)
AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL. (PubMed id 12239222)^{1, 2, 9} Roudier N.... Bailly P. (2002)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Expression of aquaporin 3 (AQP3) in normal and neoplastic lung tissues. (PubMed id 17056099)^{1, 9} Liu Y.L....Katoh R. (2007)
[Expression and significance of aquaporin 3 and aquaporin 9 in colonic mucosa of patients with functional constipation] (PubMed id 18197497)^{1, 9} Yuan W.T....Liu J.B. (2008)
Aquaporin 3 expression in human fetal membranes and its up-regulation by cyclic adenosine monophosphate in amnion epithelial cell culture. (PubMed id 16638588)^{1, 9} Wang S....Ross M.G. (2006)
Membrane trafficking of aquaporin 3 induced by epinephrine. (PubMed id 18601899)^{1, 9} Yasui H....Hirano K. (2008)
Expression of aquaporin-3 in human peritoneal mesothelial cells and its up-regulation by glucose in vitro. (PubMed id 12234316)^{1, 9} Lai K.N....Chan T.M. (2002)

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

		AND	OR
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

Entrez Gene: 360	HGNC: 636	AceView: AQP3	Ensembl:ENSG00000165272	euGenes: HUgn360
ECgene: AQP3	Kegg: 360	H-InvDB: AQP3

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for AQP3	Pharmacogenomics, SNPs, Pathways
dbRBC/BGMUT	http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=gil
SeattleSNPs	http://pga.gs.washington.edu/data/aqp3/

Intellectual Property for AQP3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AQP3 gene:
Search GeneIP for patents involving AQP3

GeneCards and IP:
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aquaporin 3 (Gill blood group)

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