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Gene: AQP4 (aquaporin 4) Homo sapiens
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Symbol: AQP4
Name: aquaporin 4
Description: Exhibits identical protein binding activity and water channel activity. Involved in several processes, including cellular response to interferon-gamma; multicellular organismal water homeostasis; and protein homotetramerization. Localizes to several cellular components, including external side of plasma membrane; integral component of plasma membrane; and sarcolemma. Implicated in Meniere's disease; blindness; neuromyelitis optica; optic neuritis; and temporal lobe epilepsy. Biomarker of Meniere's disease; cerebral amyloid angiopathy; mitochondrial DNA depletion syndrome 4a; neurodegenerative disease (multiple); and thymoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AQP-4; aquaporin 4 isoform delta4; aquaporin type4; aquaporin-4; HMIWC2; mercurial-insensitive water channel; MGC22454; MIWC; WCH4
Orthologs:
Mus musculus (house mouse) : Aqp4 (aquaporin 4)  MGI  Alliance
Rattus norvegicus (Norway rat) : Aqp4 (aquaporin 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Aqp4 (aquaporin 4)
Pan paniscus (bonobo/pygmy chimpanzee) : AQP4 (aquaporin 4)
Canis lupus familiaris (dog) : AQP4 (aquaporin 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Aqp4 (aquaporin 4)
Sus scrofa (pig) : AQP4 (aquaporin 4)
Chlorocebus sabaeus (African green monkey) : AQP4 (aquaporin 4)
Heterocephalus glaber (naked mole-rat) : Aqp4 (aquaporin 4)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1826,852,043 - 26,865,771 (-)EnsemblGRCh38hg38GRCh38
GRCh381826,852,038 - 26,865,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371824,432,007 - 24,445,735 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361822,686,005 - 22,699,714 (-)NCBINCBI36hg18NCBI36
Build 341822,686,007 - 22,699,714NCBI
Celera1821,242,174 - 21,255,883 (-)NCBI
Cytogenetic Map18q11.2NCBI
HuRef1821,281,696 - 21,295,401 (-)NCBIHuRef
CHM1_11824,359,745 - 24,373,546 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on AQP4
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735519
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.