Aqp2
entrez
11827
canonical
uniprot
P56402
canonical
ensembl
ENSMUSG00000023013
resolver
ensp
ENSMUSP00000023752
resolver
enst
ENSMUST00000023752
resolver
genesymbol
Aqp2
resolver
genesymbol_syn
cph
resolver
uniprot
Q3UQD4
resolver
uniprot
Q8VCG5
resolver
uniprot
Q9R232
resolver
uniprot_entry
AQP2_MOUSE
resolver
uniprot_entry
Q3UQD4_MOUSE
resolver
uniprot_sec
Q8VCG5
resolver
uniprot_sec
Q9R232
resolver
amino_acid_sequence
MWELRSIAFSRAVLAEFLATLLFVFFGLGSALQWASSPPSVLQIAVAFGLGIGTLVQALGHVSGAHINPAVTVACLVGCHVSFLRAAFYVAAQLLGAVAGAAILHEITPVEIRGDLAVNALHNNATAGQAVTVELFLTMQLVLCIFASTDERRSDNLGSPALSIGFSVTLGHLLGIYFTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAVIGSLLYNYLLFPSTKSLQERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGSKA
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Aqp2 are a cause of congenital progressive hydronephrosis (cph). Homozygous mice appear grossly normal at birth, but grow slowly, and 90% die between 2 and 4 weeks after birth. They display symptoms reminiscent of diabetes insipidus, with excessive water drinking (polydipsia), excessive urine excretion (polyuria), and persistent hypotonic urine. When older than 14 days, they nearly always display severe bilateral hydronephrosis resulting from impaired downward urine transport, in spite of the absence of physical blockage of the urinary tract. Surviving adults have a shortened lifespan and die at the latest at an age of 10 months. They display reduced fertility or are infertile. {ECO:0000269|PubMed:16641094}.
uniprot
proteins
function
FUNCTION: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:10191086). Plays an essential role in renal water homeostasis (PubMed:16641094). Could also be permeable to glycerol (By similarity). {ECO:0000250|UniProtKB:P41181, ECO:0000269|PubMed:10191086, ECO:0000269|PubMed:16641094}.
uniprot
proteins
mass_dalton
28965
uniprot
proteins
mutagenesis
MUTAGEN 126; /note="T->M: Does not cause loss of water channel activity, but impairs trafficking from cytoplasmic vesicles to the cell membrane."; /evidence="ECO:0000269|PubMed:10191086
uniprot
proteins
post_translational_modification
PTM: Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane (PubMed:16641094). Endocytosis is not phosphorylation-dependent (By similarity). {ECO:0000250|UniProtKB:P41181, ECO:0000269|PubMed:16641094}.; PTM: N-glycosylated. {ECO:0000269|PubMed:16641094}.
uniprot
proteins
protein_family
MIP/aquaporin (TC 1.A.8) family
uniprot
proteins
pubmed
10191086
uniprot
proteins
pubmed
12426236
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641094
uniprot
proteins
pubmed
16735444
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
31605441
uniprot
proteins
sequence_length
271
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:16641094, ECO:0000269|PubMed:16735444}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P41181}. Basolateral cell membrane {ECO:0000250|UniProtKB:P34080}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P41181}. Cell membrane {ECO:0000269|PubMed:10191086}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P41181}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10191086}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P41181}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:P41181}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P41181}. Note=Shuttles from vesicles to the apical membrane. Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane (PubMed:16735444). PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated. {ECO:0000250|UniProtKB:P41181, ECO:0000269|PubMed:16735444}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..32; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P41181"; TRANSMEM 41..59; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P41181"; TRANSMEM 86..107; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P41181"; TRANSMEM 128..148; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P41181"; TRANSMEM 157..176; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P41181"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P41181
uniprot
proteins