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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AQP4 Gene

protein-coding GIFtS: 66
GCID: GC18M024432

aquaporin 4

Explore 85 diseases affiliated with
AQP4 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 4¹ ²		HMIWC2²
MIWC¹ ² ³ ⁵		Aquaporin Type4²
Mercurial-Insensitive Water Channel² ³		Aquaporin-4¹
WCH4² ³		AQP-4³

External Ids:	HGNC: 637¹	Entrez Gene: 361²	Ensembl: ENSG00000171885⁷	OMIM: 600308⁵	UniProtKB: P55087³

Export aliases for AQP4 gene to outside databases

Previous GC identifers: GC18M024370 GC18M024166 GC18M022687 GC18M022683 GC18M022686 GC18M021281

(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 AQP4:

This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective

channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two

alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AQP4_HUMAN, P55087

Function: Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow

within the central nervous system

Gene Wiki entry for AQP4 (Aquaporin 4)

(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_000018.9 NC_018929.1 NT_010966.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AQP4 gene promoter:
c-Myb HSF1short HSF1 (long) Pax-4a C/EBPalpha YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AQP4 promoter sequence

Search SABiosciences Chromatin IP Primers for AQP4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP4

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

Entrez Gene cytogenetic band: 18q11.2-q12.1 Ensembl cytogenetic band: 18q11.2 HGNC cytogenetic band: 18q11.2-q12.1

AQP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP4 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M024432: view genomic region (about GC identifiers)

Start:	24,432,002 bp from pter	End:	24,445,782 bp from pter
Size:	13,781 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: AQP4_HUMAN, P55087 (See protein sequence)

Recommended Name: Aquaporin-4

Size: 323 amino acids; 34830 Da

Subunit: Homotetramer. Part of a complex containing MLC1, TRPV4, HEPACAM and ATP1B1

Subcellular location: Membrane; Multi-pass membrane protein

Sequence caution: Sequence=AAC50284.1; Type=Erroneous initiation; Sequence=AAC52112.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for AQP4:

3GD8 (3D)

Secondary accessions: P78564

Alternative splicing: 2 isoforms: P55087-1 P55087-2

Explore the universe of human proteins at neXtProt for AQP4: NX_P55087

Post-translational modifications:

Phosphorylation by PKC at Ser-180 reduces conductance by 50%. Phosphorylation by PKG at Ser-111 in response to

glutamats increases conductance by 40% (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P55087

AQP4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001641.1 NP_004019.1

ENSEMBL proteins:

ENSP00000372654 ENSP00000462597 ENSP00000393121 ENSP00000462075 ENSP00000372656

Reactome Protein details: P55087
Human Recombinant Protein Products for AQP4:

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	Uscn Proteins for AQP4

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18392839
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IEA	--
GO:0005911	cell-cell junction	IEA	--
GO:0009897	external side of plasma membrane	IDA	17645239

AQP4 for ontologies About GeneDecksing

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	Uscn Antibodies for AQP4
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Assay Products for AQP4:

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	Uscn ELISAs and CLIAs for AQP4

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

AQP4 for domains About GeneDecksing

3 InterPro domains/families:

IPR022357 MIP_CS

IPR023271 Aquaporin-like

IPR000425 MIP

Graphical View of Domain Structure for InterPro Entry P55087

ProtoNet protein and cluster: P55087

1 Blocks protein family: IPB000425 MIP family

UniProtKB/Swiss-Prot: AQP4_HUMAN, P55087

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: AQP4_HUMAN, P55087

Function: Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow

within the central nervous system

Genatlas biochemistry entry for AQP4:

aquaporin 4,mercurial insensitive water channel forming integral protein,predominantly expressed in brain and

muscle,also expressed in heart,kidney,lung,trachea,hypothalamic osmoreceptor and regulator of vasopressin secretion

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	--	--
GO:0005372	water transmembrane transporter activity	TAS	7559426
GO:0015250	water channel activity	EXP	--
GO:0015288	porin activity	IEA	--

AQP4 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for AQP4:

Decreased nuclei size in G2M

13 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Aqp4):

behavior/neurological	cardiovascular system	digestive/alimentary	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	homeostasis/metabolism	mortality/aging	nervous system	no phenotypic analysis
renal/urinary system	respiratory system	vision/eye

AQP4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for AQP4: Aqp4^tm1.1Tsna Aqp4^tm1Tsna Aqp4^tm1.1Lmno Aqp4^tm1Ask

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for AQP4

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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP4

(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 - 5/7 super-pathways (see all 7) 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

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

Vasopressin-regulated water reabsorption

Vasopressin-regulated water reabsorption

1.00

Bile secretion

Bile secretion

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP4

eNOS Signaling

1 BioSystems Pathway for AQP4

SIDS Susceptibility Pathways

4 Reactome Pathways for AQP4

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

2 Kegg Pathways (Kegg details for AQP4):

	Vasopressin-regulated water reabsorption
	Bile secretion

AQP4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AQP4

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/7 Interacting proteins for AQP4 (P55087³ ENSP00000372654⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSNK2A2	P19784³, ENSP00000262506⁴	I2D: score=1 STRING: ENSP00000262506
AP2M1	Q96CW1³, ENSP00000292807⁴	I2D: score=2 STRING: ENSP00000292807
AP3M1	Q9Y2T2³, ENSP00000347408⁴	I2D: score=1 STRING: ENSP00000347408
CSNK2A1	P68400³, ENSP00000217244⁴	I2D: score=1 STRING: ENSP00000217244
SEC61A1	P61619³	I2D: score=1

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	7559426
GO:0006833	water transport	TAS	--
GO:0007399	nervous system development	TAS	7528931
GO:0007565	female pregnancy	IEA	--
GO:0007588	excretion	TAS	7528931

AQP4 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

AQP4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AQP4

1 HMDB Compound for AQP4 About this table

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

10/17 Novoseek chemical compound relationships for AQP4 gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycerol	35.3	4	17525633 (1), 17044001 (1), 7540850 (1)
potassium	28.8	14	18186079 (2), 15488478 (2), 20030210 (1), 15723236 (1) (see all 11)
vas-a	25.1	1	7540850 (1)
oligonucleotide	0	1	12618402 (1)
chloride	0	2	19305791 (1), 15365806 (1)
sodium	0	1	15365806 (1)
bicarbonate	0	2	9200715 (1), 15365806 (1)
sucrose	0	1	17593398 (1)
mercury	0	1	15561410 (1)
gold	0	6	11256996 (2), 19836227 (1), 20117794 (1)

Search CenterWatch for drugs/clinical trials and news about AQP4

(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 AQP4 gene (2 alternative transcripts):

NM_001650.4 NM_004028.3

Unigene Cluster for AQP4:

Aquaporin 4

Hs.315369 [show with all ESTs]

Unigene Representative Sequence: NM_001650

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

ENST00000383168(uc002kvz.3 uc002kwa.3) ENST00000581374 ENST00000440832

ENST00000583022 ENST00000584088 ENST00000578776 ENST00000383170

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		hsa-miR-29a hsa-miR-3653 hsa-miR-500a hsa-miR-3921 hsa-miR-570 hsa-miR-374c hsa-miR-548m hsa-miR-4325

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Additional cDNA sequence:

AB128929.1 AB209156.1 AK026728.1 AK222684.1 AK295069.1 BC022286.1 BC030745.1 BC045780.1

D63412.1 HQ901095.1 U34845.1 U63622.1 U63623.1

4 DOTS entries:

DT.443332 DT.216490 DT.121091932 DT.121091968

24/167 AceView cDNA sequences (see all 167):

U63623 AV729035 AI969232 AA707906 BC022286 BF059437 T16668 CA438455

AW197630 BU687682 N54211 N72577 Z45355 AL138136 AW026657 AI359402

BM992827 NM_004028 N51085 CB156223 NM_001650 AB128929 BF593783 U63622

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AQP4 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for AQP4

(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

AQP4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATTTATGA

About this image

AQP4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Muller Glia Cells

Muller Glia, Retina

Kidney

Renal Collecting Duct System

Collecting Duct Cells

Kidney

Liver

Intrahepatic Biliary Tree

Biliary Epithelial Cells

Liver

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Liver

Liver Lobule

Periportal Hepatocytes

Liver

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Kidney

Neural Tube

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Alveolar type II cells (Derivation of mature...)

Lung

See AQP4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AQP4

SOURCE GeneReport for Unigene cluster: Hs.315369

UniProtKB/Swiss-Prot: AQP4_HUMAN, P55087

Tissue specificity: Brain - muscle >> heart, kidney, lung, and trachea

SABiosciences Expression via Pathway-Focused PCR Arrays including AQP4:

Lung Cancer in human mouse rat

Stress & Toxicity PathwayFinder in human mouse rat

Osmotic Stress in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP4

(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 common ancestor of eukaryotes.

Orthologs for AQP4 gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	AQP4¹	aquaporin 4	82.34(n) 85.58(a)		421088 NM_001004765.1 NP_001004765.1
lizard (Anolis carolinensis)	Reptilia	AQP4⁶	--	83(a)	1 ↔ 1	4(36452816-36460870)
African clawed frog (Xenopus laevis)	Amphibia	BJ058860.1²	--	72.55(n)		BJ058860.1
zebrafish (Danio rerio)	Actinopterygii	aqp4¹	aquaporin 4	65.58(n) 64.82(a)		445293 NM_001003749.1 NP_001003749.1
fruit fly (Drosophila melanogaster)	Insecta	CG7777³ Drip¹	water transporter³ CG9023-PA¹	41(a) (best of 3)³ 55.98(n)¹ 46.41(a)¹		47F13³ 36236¹ NM_165833.2¹ NP_725051.2¹
thale cress (Arabidopsis thaliana)	eudicotyledons	PIP2;8¹	putative aquaporin PIP2-8	54.13(n) 43.58(a)		816186 NM_127238.2 NP_179277.1
rice (Oryza sativa)	Liliopsida	Os04g0233400¹	hypothetical protein	49.77(n) 41.55(a)		4335226 NM_001058827.1 NP_001052292.1

ENSEMBL Gene Tree for AQP4 (if available)
TreeFam Gene Tree for AQP4 (if available)

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

Paralogs for AQP4 gene

ENSG00000250424² AQP2² AQP8² MIP² AQP5² AQP1² AQP6²

7 SIMAP similar genes for AQP4 using alignment to 7 protein entries: AQP4_HUMAN (see all proteins):

AQP6 AQP 1 AQP2 MIP AQP5 AQP1

DKFZp434D2030

AQP4 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)
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SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77964663^1,2		--	21281198(+)	`CCACTC/GATCTG`	2	--	ds500¹		2		CSA WA	120
rs74163685^1,2	C	--	21281346(-)	`GATTCC/TGCCTA`	2	--	ds500¹		0	--	--	--	--
rs76927899^1,2		--	21281472(+)	`GATGCA/GGACAT`	2	--	ds500¹		0	--	--	--	--
rs73945970^1,2	C	--	21281628(+)	`ACCTGC/TTGATC`	2	--	ds500¹		3		WA NA	240
rs76270794^1,2		--	21281634(+)	`TGATCA/GTTCTA`	2	--	ds500¹		0	--	--	--	--
rs73945972^1,2	C	--	21282076(+)	`NNNNTC/TGATTT`	2	--	ut3¹		3		WA NA	240
rs7240333^1,2	C,H	--	21282501(+)	`CTGTGC/TCCCCC`	2	--	ut3¹ ese³		5		EA NS WA NA	512
rs78139852^1,2	F	--	21282627(+)	`TTTACT/GGCTCT`	2	--	ut3¹		1		WA	118
rs76951682^1,2	C	--	21282977(+)	`AAAAGG/ATTAAG`	2	--	ut3¹		2		CSA WA	120
rs76709858^1,2	C,F	--	21283063(+)	`CTGAAA/GGCTTA`	2	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for AQP4 (24432002 - 24445782 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AQP4: --
Human Gene Mutation Database (HGMD): AQP4

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP4

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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.)
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AQP4 for disorders           About GeneDecksing

OMIM gene information: 600308    OMIM disorders: --

20/85 diseases for AQP4 (see all 85):    About MalaCards

neuromyelitis optica neuromyelitis optica spectrum disorder spinal cord injury bovine spongiform encephalopathy

transverse myelitis spinal cord disease myelitis internuclear ophthalmoplegia

optic neuritis nephrogenic diabetes insipidus cerebral amyloid angiopathy muscular dystrophy

brain edema temporal lobe epilepsy traumatic brain injury duchenne muscular dystrophy

acute disseminated encephalomyelitis diabetes insipidus cerebral artery occlusion brain injury

10 diseases from the University of Copenhagen DISEASES database for AQP4:

Neuromyelitis optica Myelitis Optic neuritis Brain edema

Multiple sclerosis Nephrogenic diabetes insipidus Acute disseminated encephalomyelitis Hydrocephalus

Cerebrovascular accident Spinal cord disease

10/41 Novoseek disease relationships for AQP4 gene (see all 41) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neuromyelitis optica	97.1	70	18625857 (5), 20128675 (2), 17143632 (2), 20047900 (2) (see all 49)
myelitis transverse	89.5	6	18625857 (2), 18805556 (1), 18510734 (1), 18509235 (1) (see all 5)
brain edema	84.8	90	19000426 (7), 18309154 (6), 19764565 (5), 20356447 (3) (see all 37)
optic neuritis	84.4	6	19140826 (1), 18510734 (1), 18509235 (1), 20019228 (1) (see all 5)
demyelinating diseases	79.3	18	18509092 (1), 19938104 (1), 17495617 (1), 18516975 (1) (see all 13)
cytotoxic brain edema	78.1	6	18546539 (1), 17335082 (1), 19114109 (1)
myelitis	75.7	5	19348177 (1), 19140826 (1), 18509235 (1), 19917985 (1)
multiple sclerosis	72.3	19	17143632 (2), 19465451 (2), 17439988 (1), 19448080 (1) (see all 13)
cerebral edema	70.6	16	19096776 (3), 18095136 (1), 18442833 (1), 19198125 (1) (see all 9)
water intoxication	60.9	8	10795927 (1), 12162729 (1), 14734638 (1), 19114109 (1)

Genetic Association Database (GAD): AQP4
Human Genome Epidemiology (HuGE) Navigator: AQP4 (9 documents)

Export disorders for AQP4 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)
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PubMed articles for AQP4 gene, integrated from 9 sources (see all 378):
(articles sorted by number of sources associating them with AQP4)

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Linkage disequilibrium in aquaporin 4 gene and association study with schizophrenia. (PubMed id 16194264)^{1, 4, 9} Muratake T....Someya T. (2005)
The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain. (PubMed id 8855281)^{1, 2, 9} Lu M.... Deen P.M.T. (1996)
Crystal structure of human aquaporin 4 at 1.8 A and its mechanism of conductance. (PubMed id 19383790)^{1, 2, 9} Ho J.D....Stroud R.M. (2009)
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)
A water channel closely related to rat brain aquaporin 4 is expressed in acid- and pepsinogen-secretory cells of human stomach. (PubMed id 8601457)^{1, 2} Misaka T.... Arai S. (1996)
cDNA cloning, gene organization, and chromosomal localization of a human mercurial insensitive water channel. Evidence for distinct transcriptional units. (PubMed id 7559426)^{1, 2} Yang B.... Verkman A.S. (1995)
Molecular characterization of an aquaporin cDNA from brain: candidate osmoreceptor and regulator of water balance. (PubMed id 7528931)^{1, 3} Jung J.S....Agre P. (1994)
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (PubMed id 18641458)^{1, 9} Assereto S....Minetti C. (2008)
Expression pattern of the water channel aquaporin-4 in human gliomas is associated with blood-brain barrier disturbance but not with patient survival. (PubMed id 17335082)^{1, 9} Warth A....Mittelbronn M. (2007)
[The relationship between the aquaporin-4 and brain edema, pathologic change, ultrastructure in perihematoma tissue in patients with intracerebral hemorrhage.] (PubMed id 19000426)^{1, 9} Guo F.Q....Yang G. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 361	HGNC: 637	AceView: AQP4	Ensembl:ENSG00000171885	euGenes: HUgn361
ECgene: AQP4	Kegg: 361	H-InvDB: AQP4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for AQP4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for AQP4	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for AQP4 gene
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Patent Information for AQP4 gene:
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aquaporin 4

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