U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aqp4 aquaporin 4 [ Mus musculus (house mouse) ]

Gene ID: 11829, updated on 29-Oct-2024

Summary

Official Symbol
Aqp4provided by MGI
Official Full Name
aquaporin 4provided by MGI
Primary source
MGI:MGI:107387
See related
Ensembl:ENSMUSG00000024411 AllianceGenome:MGI:107387
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
WCH4
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. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
Expression
Biased expression in cerebellum adult (RPKM 26.4), frontal lobe adult (RPKM 12.8) and 4 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Aqp4 in Genome Data Viewer
Location:
18 A1; 18 8.74 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (15522451..15544039, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (15389394..15410982, complement)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:15490295-15490483 Neighboring gene STARR-seq mESC enhancer starr_43886 Neighboring gene RIKEN cDNA A830021F12 gene Neighboring gene predicted gene, 30230 Neighboring gene predicted gene, 57651 Neighboring gene fibrillarin pseudogene Neighboring gene STARR-seq mESC enhancer starr_43888 Neighboring gene carbohydrate sulfotransferase 9 Neighboring gene STARR-seq mESC enhancer starr_43889 Neighboring gene predicted gene, 30452

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables water channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables water channel activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in carbon dioxide transport ISO
Inferred from Sequence Orthology
more info
 
involved_in cell-cell adhesion ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to glucose stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to type II interferon ISO
Inferred from Sequence Orthology
more info
 
involved_in cerebrospinal fluid circulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebrospinal fluid secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular water homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in multicellular organismal-level water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within multicellular organismal-level water homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell adhesion molecule production ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of interleukin-1 beta production ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of interleukin-6 production ISO
Inferred from Sequence Orthology
more info
 
involved_in protein homotetramerization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein homotetramerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of vascular endothelial growth factor production ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within renal water absorption IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within renal water absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in water transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within water transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in water transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within water transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in T-tubule ISO
Inferred from Sequence Orthology
more info
 
located_in astrocyte end-foot IDA
Inferred from Direct Assay
more info
PubMed 
located_in astrocyte end-foot ISO
Inferred from Sequence Orthology
more info
 
located_in basal plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
aquaporin-4
Names
mercurial-insensitive water channel

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001308641.1NP_001295570.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_001295570.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as a/1) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
    Source sequence(s)
    AC133525
    Consensus CDS
    CCDS89196.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000159185.2, ENSMUST00000238946.2
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  2. NM_001308642.1NP_001295571.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_001295571.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as ad/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
    Source sequence(s)
    AC133525
    Consensus CDS
    CCDS89196.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157337.2, ENSMUST00000234053.2
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  3. NM_001308643.1NP_001295572.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_001295572.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as ab/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
    Source sequence(s)
    AC133525
    Consensus CDS
    CCDS89196.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157152.2, ENSMUST00000234473.2
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  4. NM_001308644.1NP_001295573.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_001295573.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6, also known as ac/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
    Source sequence(s)
    AC133525
    Consensus CDS
    CCDS89196.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157239.2, ENSMUST00000234518.2
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  5. NM_001308645.1NP_001295574.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_001295574.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7, also known as abc/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
    Source sequence(s)
    AC133525
    Consensus CDS
    CCDS89196.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157347.2, ENSMUST00000234391.2
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  6. NM_001308646.1NP_001295575.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_001295575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8, also known as abcd/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
    Source sequence(s)
    AC133525
    Consensus CDS
    CCDS89196.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157000.2, ENSMUST00000235044.2
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  7. NM_001308647.2NP_001295576.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_001295576.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as AQP4.M23X or mMIWC1) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23X) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
    Source sequence(s)
    AC133525, AF469169, AK045357, AK079614, BB750519, BX633380, U88623
    Consensus CDS
    CCDS89196.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157060.2, ENSMUST00000234643.2
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  8. NM_001317729.1NP_001304658.1  aquaporin-4 isoform M1x

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as AQP4.M1 or mMIWC2) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (M1) results from translation termination at the upstream UGA stop codon, while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the longer, C-terminally extended isoform (M1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
    Source sequence(s)
    AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623
    UniProtKB/TrEMBL
    A0A5F8MQ17
    Conserved Domains (1) summary
    pfam00230
    Location:31248
    MIP; Major intrinsic protein
  9. NM_009700.3NP_033830.2  aquaporin-4 isoform M1

    See identical proteins and their annotated locations for NP_033830.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as AQP4.M1 or mMIWC2) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (M1) results from translation termination at the upstream UGA stop codon, while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the shorter isoform (M1).
    Source sequence(s)
    AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623
    Consensus CDS
    CCDS29073.1
    UniProtKB/Swiss-Prot
    P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
    UniProtKB/TrEMBL
    A0A0R4J0Z3
    Related
    ENSMUSP00000078088.7, ENSMUST00000079081.8
    Conserved Domains (1) summary
    pfam00230
    Location:31248
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    15522451..15544039 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)