AQP4 aquaporin 4 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: AQP4provided by HGNC
Official Full Name: aquaporin 4provided by HGNC
Primary source: HGNC:637
See related: Ensembl:ENSG00000171885; HPRD:02631; MIM:600308; Vega:OTTHUMG00000131955
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MIWC; HMIWC2
Summary: 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]

Genomic context

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Location :: 18q11.2-q12.1

Sequence :: Chromosome: 18; NC_000018.9 (24432007..24445716, complement)

See AQP4 in Epigenomics, MapViewer

Chromosome 18 - NC_000018.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Our genetic case-control study did not indicate an association between AQP4 gene variants and Idiopathic intracranial hypertension.
Title: Is the brain water channel aquaporin-4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort.
AQP4 orthogonal arrays of particles were imaged with ~20 nm spatial precision by photoactivation localization microscopy.
Title: Super-resolution imaging of aquaporin-4 orthogonal arrays of particles in cell membranes.
Structural features of aquaporin 4 supporting the formation of arrays and junctions in biomembranes
Title: Structural features of aquaporin 4 supporting the formation of arrays and junctions in biomembranes.
Genetic variation in AQP4 may account for the susceptibility to AQP4-Ab-positive neuromyelitis optica and its spectrum disorders in Southern Han Chinese population.
Title: Preliminary study on the association of AQP4 promoter polymorphism with anti-aquaporin-4 antibody positivity in southern Han Chinese patients with idiopathic demyelinating disorders of central nervous system.
Both cognitive impairment and substantial cortical neuronal loss are demonstrated with unique AQP4 dynamics in astrocytes from neuromyelitis optica patients.
Title: Cognitive impairment and cortical degeneration in neuromyelitis optica.
The subcellular co-localisation of K(ir)4.1 and AQP4 in the supporting cells of the cochlea described in this study resembles that of the astroglia of the central nervous system and the glial Mueller cells in the retina.
Title: Co-localisation of K(ir)4.1 and AQP4 in rat and human cochleae reveals a gap in water channel expression at the transduction sites of endocochlear K(+) recycling routes.
The potential functions of AQP2 and AQP5 in the inner ear are in the resorption and secretion of endolymph. (Review)
Title: Water channel proteins in the inner ear and their link to hearing impairment and deafness.
Reduced expression of cell surface AQP-4 is characteristic of glioblastoma multiforme patients without seizures, likely attributable to a posttranslational mechanism.
Title: Different aquaporin-4 expression in glioblastoma multiforme patients with and without seizures.
The presence and severity of CCVSI in multiple sclerosis correlate with disease status but has no or very limited association with clinical disability.
Title: Aquaporin-4 expression in distal myopathy with rimmed vacuoles.
AQP4 expression associates with spinal cord lesions in two cases of neuromyelitis optica.
Title: Two cases of lumbosacral myeloradiculitis with anti-aquaporin-4 antibody.

Submit: New GeneRIF Correction See all (131)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P55087	Q96CW1	AP2M1	HPRD	PubMed
P55087	Q9Y2T2	AP3M1	HPRD	PubMed
P55087	P68400	CSNK2A1	HPRD	PubMed
P55087	P19784	CSNK2A2	HPRD	PubMed
BioGRID:106857	BioGRID:107587	AP2M1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:106857	BioGRID:111683	PSMD4	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
Bile secretion, organism-specific biosystem (from KEGG)
Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
Bile secretion, conserved biosystem (from KEGG)
Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
Passive Transport by Aquaporins, organism-specific biosystem (from REACTOME)
Passive Transport by Aquaporins, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
Regulation of Water Balance by Renal Aquaporins, organism-specific biosystem (from REACTOME)
Regulation of Water Balance by Renal Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...
SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...

General gene information

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Markers

D18S1195 (e-PCR)
- UniSTS:42497

D18S941E (e-PCR)
- UniSTS:150533

AQP4_717 (e-PCR)
- UniSTS:277005

AQP4_V79 (e-PCR)
- UniSTS:277005

RH25921 (e-PCR)
- UniSTS:85531

D18S1223 (e-PCR)
- UniSTS:70969

RH18229 (e-PCR)
- UniSTS:45891

A006W40 (e-PCR)
- UniSTS:3912

SHGC-36589 (e-PCR)
- UniSTS:83072

RH121996 (e-PCR)
- UniSTS:132249

Aqp4 (e-PCR), detects polymorphism
- UniSTS:209565

WI-13598 (e-PCR)
- UniSTS:77734

A002Q03 (e-PCR)
- UniSTS:56496

D18S1223 (e-PCR)
- UniSTS:79853

WI-21214 (e-PCR)
- UniSTS:3054

Homology

Homologs of the AQP4 gene: The AQP4 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, M.oryzae, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
porin activity	IEA Inferred from Electronic Annotation more info
water channel activity	EXP Inferred from Experiment more info
water transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
carbon dioxide transport	IEA Inferred from Electronic Annotation more info
cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
cellular response to interferon-gamma	IDA Inferred from Direct Assay more info	PubMed
excretion	TAS Traceable Author Statement more info	PubMed
female pregnancy	IEA Inferred from Electronic Annotation more info
hyperosmotic salinity response	IEA Inferred from Electronic Annotation more info
multicellular organismal water homeostasis	IEP Inferred from Expression Pattern more info	PubMed
nervous system development	TAS Traceable Author Statement more info	PubMed
protein homooligomerization	IEA Inferred from Electronic Annotation more info
renal water absorption	IEA Inferred from Electronic Annotation more info
response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
response to radiation	IEA Inferred from Electronic Annotation more info
sensory perception of sound	IEA Inferred from Electronic Annotation more info
transmembrane transport	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed
water transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
T-tubule	IEA Inferred from Electronic Annotation more info
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
cell-cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
protein complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: aquaporin-4

Names: aquaporin-4; WCH4; aquaporin type4; mercurial-insensitive water channel

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029560.1 RefSeqGene

Range

5001..18710

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001650.4 → NP_001641.1 aquaporin-4 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longer transcript, and encodes the longer isoform (a), also known as isoform M1.

Source sequence(s)

AK026728, AL138136, BC022286, BC030745, BC045780, BI667387, CD105892, CK001094, D63412, N50070, R35726

Consensus CDS

CCDS11889.1

UniProtKB/TrEMBL

F1DSG4

UniProtKB/Swiss-Prot

P55087

Related

ENSP00000372654, OTTHUMP00000162792, ENST00000383168, OTTHUMT00000254914

Conserved Domains (1) summary

cd00333
Location:36 – 251
Blast Score: 520

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
NM_004028.3 → NP_004019.1 aquaporin-4 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (b), also known as variant C2, has an alternate 5' sequence and utilizes downstream start codon, as compared to variant a. The resulting isoform (b), also known as isoform M23, has a shorter N-terminus when compared to isoform a.

Source sequence(s)

AK026728, AL138136, BC022286, BC030745, BC045780, CD105892, CK001094, D63412, N50070, R35726, U34845

Consensus CDS

CCDS58617.1

UniProtKB/Swiss-Prot

P55087

Conserved Domains (1) summary

cd00333
Location:14 – 229
Blast Score: 504

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000018.9 Reference GRCh37.p10 Primary Assembly

Range

24432007..24445716, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000150.1 Alternate HuRef

Range

21281696..21295401, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018929.1 Alternate CHM1_1.0

Range

24425670..24439380, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01022569.1 (24007..37712)	None
genomic	AC018371.10 (3423..17132)	None
genomic	AMYH01008906.1 (104707..118417)	None
genomic	CH471088.1	EAX01228.1
		EAX01229.1
genomic	U63613.1	AAG17964.1
mRNA	AB128929.1	BAD22823.1
mRNA	AB209156.1	BAD92393.1
mRNA	AK026728.1	None
mRNA	AK222684.1	BAD96404.1
mRNA	AK295069.1	BAG58116.1
mRNA	AL119338.1	None
mRNA	AL138136.1	None
mRNA	AV725241.1	None
mRNA	BC022286.1	AAH22286.1
mRNA	BC030745.1	None
mRNA	BC045780.1	None
mRNA	BI596912.1	None
mRNA	BI667387.1	None
mRNA	BI917845.1	None
mRNA	BQ638704.1	None
mRNA	CD105892.1	None
mRNA	CK001094.1	None
mRNA	D63412.1	BAA09715.1
mRNA	HQ901095.1	ADZ13511.1
mRNA	N50070.1	None
mRNA	R35726.1	None
mRNA	U34845.1	AAC50284.1
mRNA	U63622.1	AAB26957.1
mRNA	U63623.1	AAB26958.1
other-genetic	HQ447648.1	ADQ32133.1